skills/genomics-bioinformatics/cbioportal-database/SKILL.md
Cancer genomics (TCGA et al.) via cBioPortal REST API. Retrieve somatic mutations, CNAs, expression, clinical data (survival/stage/treatment) across thousands of studies. Use for TMB, oncoprints, survival analysis. For population frequencies use gnomad-database; for drug-gene interactions use dgidb-database.
npx skillsauth add jaechang-hits/scicraft cbioportal-databaseInstall this skill globally with one command. Works with Claude Code, Cursor, and Windsurf.
3 of 9 scanners reported clean
Some scanners were skipped, did not run, or reported a non-clean status. Review each row below.
cBioPortal for Cancer Genomics is a public repository of cancer genomics data including TCGA, ICGC, and hundreds of curated studies spanning 100+ cancer types. It provides somatic mutation profiles, copy number alterations (CNA), gene expression, clinical data (survival, stage, treatment history), and methylation data for tens of thousands of patient samples. Data is accessible via a REST API at https://www.cbioportal.org/api/ with no authentication required.
gnomad-database instead when you need population-level variant allele frequencies in healthy individualsdgidb-database; cBioPortal provides the genomic alteration data, not drug interaction annotationsrequests, pandas, matplotlibTP53), cBioPortal study IDs (e.g., tcga_brca), molecular profile IDstime.sleep(0.2) between batch requests for polite accesspip install requests pandas matplotlib
import requests
import pandas as pd
BASE_URL = "https://www.cbioportal.org/api"
def cbio_get(endpoint, params=None):
"""GET request to cBioPortal REST API, returns parsed JSON."""
r = requests.get(f"{BASE_URL}/{endpoint}", params=params,
headers={"Accept": "application/json"}, timeout=30)
r.raise_for_status()
return r.json()
# List available cancer types
cancer_types = cbio_get("cancer-types")
print(f"Total cancer types: {len(cancer_types)}")
# Total cancer types: 87
# Find TCGA breast cancer study
studies = cbio_get("studies", params={"keyword": "breast"})
brca = [s for s in studies if "tcga_brca" in s["studyId"]]
if brca:
s = brca[0]
print(f"Study: {s['name']}")
print(f" studyId: {s['studyId']}")
print(f" Samples: {s['allSampleCount']}")
# Study: Breast Invasive Carcinoma (TCGA, PanCancer Atlas)
# studyId: brca_tcga_pan_can_atlas_2018
# Samples: 1084
List available cancer types and find studies by cancer type or keyword.
import requests
import pandas as pd
BASE_URL = "https://www.cbioportal.org/api"
def cbio_get(endpoint, params=None):
r = requests.get(f"{BASE_URL}/{endpoint}", params=params,
headers={"Accept": "application/json"}, timeout=30)
r.raise_for_status()
return r.json()
# Get all cancer types
cancer_types = cbio_get("cancer-types")
ct_df = pd.DataFrame(cancer_types)[["cancerTypeId", "name", "dedicatedColor"]]
print(f"Cancer types: {len(ct_df)}")
print(ct_df.head(5).to_string(index=False))
# Find all studies for a cancer type
lung_studies = cbio_get("studies", params={"keyword": "lung adenocarcinoma"})
print(f"\nLung adenocarcinoma studies: {len(lung_studies)}")
for s in lung_studies[:3]:
print(f" {s['studyId']:40s} n={s['allSampleCount']}")
# Get detailed study metadata including available data types
study_id = "brca_tcga_pan_can_atlas_2018"
study = cbio_get(f"studies/{study_id}")
print(f"Study: {study['name']}")
print(f" Reference genome: {study.get('referenceGenome', 'n/a')}")
print(f" All sample count: {study['allSampleCount']}")
# List molecular profiles for the study
profiles = cbio_get("molecular-profiles", params={"studyId": study_id})
print(f"\nMolecular profiles ({len(profiles)} total):")
for p in profiles:
print(f" {p['molecularProfileId']:55s} [{p['molecularAlterationType']}]")
Retrieve mutation data for a gene or set of genes in a study's mutation profile.
import requests, json
import pandas as pd
BASE_URL = "https://www.cbioportal.org/api"
def cbio_post(endpoint, body):
"""POST request to cBioPortal REST API."""
r = requests.post(f"{BASE_URL}/{endpoint}", json=body,
headers={"Accept": "application/json",
"Content-Type": "application/json"},
timeout=60)
r.raise_for_status()
return r.json()
def cbio_get(endpoint, params=None):
r = requests.get(f"{BASE_URL}/{endpoint}", params=params,
headers={"Accept": "application/json"}, timeout=30)
r.raise_for_status()
return r.json()
# Get all samples for a study
study_id = "brca_tcga_pan_can_atlas_2018"
samples = cbio_get(f"studies/{study_id}/samples", params={"projection": "ID"})
sample_ids = [s["sampleId"] for s in samples]
print(f"Total samples: {len(sample_ids)}")
# Mutation profile ID follows pattern: {studyId}_mutations
profile_id = f"{study_id}_mutations"
# Fetch mutations for TP53 (Entrez gene ID = 7157)
body = {
"sampleIds": sample_ids[:200], # first 200 samples
"entrezGeneIds": [7157] # TP53
}
mutations = cbio_post(f"molecular-profiles/{profile_id}/mutations/fetch", body)
print(f"TP53 mutations in first 200 samples: {len(mutations)}")
# Summarize by mutation type
mut_df = pd.DataFrame(mutations)
print("\nMutation type distribution:")
print(mut_df["mutationType"].value_counts().head(8).to_string())
# Missense_Mutation 102
# Nonsense_Mutation 28
# Splice_Site 14
# Frame_Shift_Del 12
Fetch discrete CNA data (amplification = 2, gain = 1, diploid = 0, loss = -1, deep deletion = -2).
import requests
import pandas as pd
BASE_URL = "https://www.cbioportal.org/api"
def cbio_post(endpoint, body):
r = requests.post(f"{BASE_URL}/{endpoint}", json=body,
headers={"Accept": "application/json",
"Content-Type": "application/json"},
timeout=60)
r.raise_for_status()
return r.json()
def cbio_get(endpoint, params=None):
r = requests.get(f"{BASE_URL}/{endpoint}", params=params,
headers={"Accept": "application/json"}, timeout=30)
r.raise_for_status()
return r.json()
study_id = "brca_tcga_pan_can_atlas_2018"
# CNA profile: discrete copy number data
cna_profile_id = f"{study_id}_gistic" # GISTIC-derived discrete CNA
samples = cbio_get(f"studies/{study_id}/samples", params={"projection": "ID"})
sample_ids = [s["sampleId"] for s in samples][:300]
# Fetch CNA for ERBB2 (Entrez 2064) and MYC (Entrez 4609)
body = {
"sampleIds": sample_ids,
"entrezGeneIds": [2064, 4609] # ERBB2, MYC
}
cna_data = cbio_post(
f"molecular-profiles/{cna_profile_id}/molecular-data/fetch", body
)
print(f"CNA records retrieved: {len(cna_data)}")
cna_df = pd.DataFrame(cna_data)
# CNA values: 2=amplification, 1=gain, 0=diploid, -1=loss, -2=deep deletion
cna_label = {2: "AMP", 1: "GAIN", 0: "DIPLOID", -1: "LOSS", -2: "HOMDEL"}
print("\nERBB2 CNA distribution:")
erbb2 = cna_df[cna_df["entrezGeneId"] == 2064]
erbb2_counts = erbb2["value"].map(lambda x: cna_label.get(int(x), str(x))).value_counts()
print(erbb2_counts.to_string())
# DIPLOID 210
# AMP 62
# GAIN 18
# LOSS 10
Retrieve per-sample or per-patient clinical attributes including survival, tumor stage, and treatment.
import requests
import pandas as pd
BASE_URL = "https://www.cbioportal.org/api"
def cbio_get(endpoint, params=None):
r = requests.get(f"{BASE_URL}/{endpoint}", params=params,
headers={"Accept": "application/json"}, timeout=30)
r.raise_for_status()
return r.json()
study_id = "brca_tcga_pan_can_atlas_2018"
# List available clinical attributes for this study
attrs = cbio_get(f"studies/{study_id}/clinical-attributes")
attr_df = pd.DataFrame(attrs)[["clinicalAttributeId", "displayName", "datatype", "patientAttribute"]]
print(f"Clinical attributes: {len(attr_df)}")
# Show survival-related attributes
survival_attrs = attr_df[attr_df["clinicalAttributeId"].str.contains("SURVIVAL|MONTHS|STATUS", na=False)]
print(survival_attrs[["clinicalAttributeId", "displayName"]].to_string(index=False))
# Fetch OS_STATUS and OS_MONTHS for all patients
clinical = cbio_get(f"studies/{study_id}/clinical-data",
params={"clinicalDataType": "PATIENT",
"projection": "DETAILED"})
clin_df = pd.DataFrame(clinical)
# Pivot to patient × attribute matrix
clin_pivot = clin_df.pivot_table(
index="patientId", columns="clinicalAttributeId",
values="value", aggfunc="first"
)
print(f"\nPatients: {len(clin_pivot)}")
if "OS_STATUS" in clin_pivot.columns:
print("OS status counts:")
print(clin_pivot["OS_STATUS"].value_counts().to_string())
# OS status counts:
# 0:LIVING 765
# 1:DECEASED 319
Retrieve mRNA expression values (RSEM or FPKM) from RNA-seq profiles.
import requests
import pandas as pd
BASE_URL = "https://www.cbioportal.org/api"
def cbio_post(endpoint, body):
r = requests.post(f"{BASE_URL}/{endpoint}", json=body,
headers={"Accept": "application/json",
"Content-Type": "application/json"},
timeout=60)
r.raise_for_status()
return r.json()
def cbio_get(endpoint, params=None):
r = requests.get(f"{BASE_URL}/{endpoint}", params=params,
headers={"Accept": "application/json"}, timeout=30)
r.raise_for_status()
return r.json()
study_id = "brca_tcga_pan_can_atlas_2018"
# RNA-seq profile (RSEM normalized values)
rna_profile_id = f"{study_id}_rna_seq_v2_mrna_median_normed_log2"
samples = cbio_get(f"studies/{study_id}/samples", params={"projection": "ID"})
sample_ids = [s["sampleId"] for s in samples][:100]
# Fetch expression for ESR1 (Entrez 2099), ERBB2 (2064), PGR (5241)
body = {
"sampleIds": sample_ids,
"entrezGeneIds": [2099, 2064, 5241] # ESR1, ERBB2, PGR
}
expr_data = cbio_post(
f"molecular-profiles/{rna_profile_id}/molecular-data/fetch", body
)
expr_df = pd.DataFrame(expr_data)
print(f"Expression records: {len(expr_df)}")
# Pivot to gene × sample matrix
expr_pivot = expr_df.pivot_table(
index="sampleId", columns="entrezGeneId", values="value"
)
expr_pivot.columns = ["ERBB2", "ESR1", "PGR"] # rename by gene symbol
print(f"\nExpression matrix: {expr_pivot.shape}")
print(expr_pivot.describe().round(2))
Look up gene metadata (symbol, Entrez ID, type) required to construct mutation and CNA queries.
import requests
import pandas as pd
BASE_URL = "https://www.cbioportal.org/api"
def cbio_get(endpoint, params=None):
r = requests.get(f"{BASE_URL}/{endpoint}", params=params,
headers={"Accept": "application/json"}, timeout=30)
r.raise_for_status()
return r.json()
def cbio_post(endpoint, body):
r = requests.post(f"{BASE_URL}/{endpoint}", json=body,
headers={"Accept": "application/json",
"Content-Type": "application/json"},
timeout=30)
r.raise_for_status()
return r.json()
# Single gene lookup by Hugo symbol
gene = cbio_get("genes/TP53")
print(f"TP53: entrezGeneId={gene['entrezGeneId']}, type={gene['type']}")
# TP53: entrezGeneId=7157, type=protein-coding
# Batch gene lookup — convert Hugo symbols to Entrez IDs
gene_symbols = ["BRCA1", "BRCA2", "TP53", "PIK3CA", "PTEN", "KRAS", "EGFR"]
body = {"geneIds": gene_symbols, "geneIdType": "HUGO_GENE_SYMBOL"}
gene_list = cbio_post("genes/fetch", body)
gene_map = {g["hugoGeneSymbol"]: g["entrezGeneId"] for g in gene_list}
gene_df = pd.DataFrame(gene_list)[["hugoGeneSymbol", "entrezGeneId", "type"]]
print(f"\nResolved {len(gene_df)} genes:")
print(gene_df.to_string(index=False))
# hugoGeneSymbol entrezGeneId type
# BRCA1 672 protein-coding
# BRCA2 675 protein-coding
# TP53 7157 protein-coding
Plot mutation frequency across TCGA studies for a cancer driver gene.
import requests, time
import pandas as pd
import matplotlib.pyplot as plt
BASE_URL = "https://www.cbioportal.org/api"
def cbio_get(endpoint, params=None):
r = requests.get(f"{BASE_URL}/{endpoint}", params=params,
headers={"Accept": "application/json"}, timeout=30)
r.raise_for_status()
return r.json()
def cbio_post(endpoint, body):
r = requests.post(f"{BASE_URL}/{endpoint}", json=body,
headers={"Accept": "application/json",
"Content-Type": "application/json"},
timeout=60)
r.raise_for_status()
return r.json()
# Focus on a curated set of TCGA PanCancer Atlas studies
STUDIES = {
"brca_tcga_pan_can_atlas_2018": "BRCA",
"luad_tcga_pan_can_atlas_2018": "LUAD",
"coad_tcga_pan_can_atlas_2018": "COAD",
"prad_tcga_pan_can_atlas_2018": "PRAD",
"gbm_tcga_pan_can_atlas_2018": "GBM",
}
GENE_ENTREZ = 7157 # TP53
GENE_SYMBOL = "TP53"
rows = []
for study_id, label in STUDIES.items():
try:
samples = cbio_get(f"studies/{study_id}/samples", params={"projection": "ID"})
sample_ids = [s["sampleId"] for s in samples]
n_total = len(sample_ids)
profile_id = f"{study_id}_mutations"
body = {"sampleIds": sample_ids, "entrezGeneIds": [GENE_ENTREZ]}
muts = cbio_post(f"molecular-profiles/{profile_id}/mutations/fetch", body)
mutated_samples = len({m["sampleId"] for m in muts})
rows.append({"study": label, "n_mutated": mutated_samples,
"n_total": n_total,
"freq": mutated_samples / n_total * 100})
time.sleep(0.2)
except Exception as e:
print(f" Skipping {study_id}: {e}")
df = pd.DataFrame(rows).sort_values("freq", ascending=True)
fig, ax = plt.subplots(figsize=(7, 4))
bars = ax.barh(df["study"], df["freq"], color="#C0392B", edgecolor="white")
ax.bar_label(bars, labels=[f"{v:.0f}% (n={n})" for v, n in zip(df["freq"], df["n_mutated"])],
padding=4, fontsize=9)
ax.set_xlabel(f"{GENE_SYMBOL} Mutation Frequency (%)")
ax.set_title(f"{GENE_SYMBOL} Somatic Mutation Frequency\nacross TCGA PanCancer Atlas Studies")
ax.set_xlim(0, df["freq"].max() * 1.3)
plt.tight_layout()
plt.savefig(f"{GENE_SYMBOL}_mutation_frequency.png", dpi=150, bbox_inches="tight")
print(f"Saved {GENE_SYMBOL}_mutation_frequency.png")
print(df[["study", "n_mutated", "n_total", "freq"]].to_string(index=False))
cBioPortal organizes data in a three-tier hierarchy: Cancer Studies → Molecular Profiles → Sample-level data. A single study (e.g., brca_tcga_pan_can_atlas_2018) contains multiple molecular profiles, each covering one data type. Before querying mutation or expression data, always retrieve the molecular profile list with GET /molecular-profiles?studyId={studyId} to confirm the correct profile ID.
| Data Type | Typical Profile ID Suffix | Alteration Type |
|-----------|--------------------------|-----------------|
| Somatic mutations | _mutations | MUTATION_EXTENDED |
| Discrete CNA (GISTIC) | _gistic | COPY_NUMBER_ALTERATION |
| Continuous CNA (log2) | _log2CNA | COPY_NUMBER_ALTERATION |
| RNA-seq (log2 RSEM) | _rna_seq_v2_mrna_median_normed_log2 | MRNA_EXPRESSION |
| Methylation | _methylation_hm27 or _hm450 | METHYLATION |
Not all studies have all profile types. Always verify with GET /molecular-profiles?studyId={studyId}.
The REST API mutation and molecular data endpoints require Entrez Gene IDs (integers), not Hugo symbols. Use GET /genes/{hugoSymbol} or POST /genes/fetch to resolve symbols to IDs before batch queries.
Goal: Retrieve mutations for multiple cancer driver genes across an entire TCGA study and export to CSV.
import requests, time
import pandas as pd
BASE_URL = "https://www.cbioportal.org/api"
def cbio_get(endpoint, params=None):
r = requests.get(f"{BASE_URL}/{endpoint}", params=params,
headers={"Accept": "application/json"}, timeout=30)
r.raise_for_status()
return r.json()
def cbio_post(endpoint, body):
r = requests.post(f"{BASE_URL}/{endpoint}", json=body,
headers={"Accept": "application/json",
"Content-Type": "application/json"},
timeout=120)
r.raise_for_status()
return r.json()
study_id = "luad_tcga_pan_can_atlas_2018"
profile_id = f"{study_id}_mutations"
# Resolve gene symbols to Entrez IDs
gene_symbols = ["KRAS", "EGFR", "TP53", "BRAF", "STK11", "KEAP1", "RB1"]
gene_list = cbio_post("genes/fetch",
{"geneIds": gene_symbols, "geneIdType": "HUGO_GENE_SYMBOL"})
gene_map = {g["entrezGeneId"]: g["hugoGeneSymbol"] for g in gene_list}
entrez_ids = list(gene_map.keys())
# Fetch all samples
samples = cbio_get(f"studies/{study_id}/samples", params={"projection": "ID"})
sample_ids = [s["sampleId"] for s in samples]
print(f"Study: {study_id} — {len(sample_ids)} samples")
# Batch mutations in chunks of 500 samples to avoid timeouts
chunk_size = 500
all_muts = []
for i in range(0, len(sample_ids), chunk_size):
chunk = sample_ids[i:i + chunk_size]
body = {"sampleIds": chunk, "entrezGeneIds": entrez_ids}
muts = cbio_post(f"molecular-profiles/{profile_id}/mutations/fetch", body)
all_muts.extend(muts)
time.sleep(0.1)
mut_df = pd.DataFrame(all_muts)
mut_df["hugoSymbol"] = mut_df["entrezGeneId"].map(gene_map)
print(f"Total mutations: {len(mut_df)}")
print("\nMutation counts per gene:")
print(mut_df.groupby("hugoSymbol")["sampleId"].nunique()
.sort_values(ascending=False).to_string())
mut_df.to_csv(f"{study_id}_driver_mutations.csv", index=False)
print(f"\nSaved: {study_id}_driver_mutations.csv")
Goal: Compare overall survival between patients with ERBB2 amplification vs. diploid/loss in TCGA BRCA.
import requests
import pandas as pd
import matplotlib.pyplot as plt
from matplotlib.patches import Patch
BASE_URL = "https://www.cbioportal.org/api"
def cbio_get(endpoint, params=None):
r = requests.get(f"{BASE_URL}/{endpoint}", params=params,
headers={"Accept": "application/json"}, timeout=30)
r.raise_for_status()
return r.json()
def cbio_post(endpoint, body):
r = requests.post(f"{BASE_URL}/{endpoint}", json=body,
headers={"Accept": "application/json",
"Content-Type": "application/json"},
timeout=60)
r.raise_for_status()
return r.json()
study_id = "brca_tcga_pan_can_atlas_2018"
cna_profile_id = f"{study_id}_gistic"
# Get all samples
samples = cbio_get(f"studies/{study_id}/samples", params={"projection": "ID"})
sample_ids = [s["sampleId"] for s in samples]
# Fetch ERBB2 CNA (Entrez 2064)
cna_data = cbio_post(
f"molecular-profiles/{cna_profile_id}/molecular-data/fetch",
{"sampleIds": sample_ids, "entrezGeneIds": [2064]}
)
cna_df = pd.DataFrame(cna_data)[["sampleId", "value"]].rename(columns={"value": "erbb2_cna"})
cna_df["erbb2_cna"] = cna_df["erbb2_cna"].astype(int)
cna_df["erbb2_status"] = cna_df["erbb2_cna"].map(
{2: "Amplified", 1: "Gain", 0: "Diploid", -1: "Loss", -2: "Deep Deletion"})
# Fetch clinical data (OS_STATUS, OS_MONTHS)
clinical = cbio_get(f"studies/{study_id}/clinical-data",
params={"clinicalDataType": "PATIENT", "projection": "DETAILED"})
clin_df = pd.DataFrame(clinical)
clin_pivot = clin_df.pivot_table(
index="patientId", columns="clinicalAttributeId", values="value", aggfunc="first"
).reset_index()
# Map samples to patients
sample_patient = cbio_get(f"studies/{study_id}/samples", params={"projection": "DETAILED"})
sp_df = pd.DataFrame(sample_patient)[["sampleId", "patientId"]]
# Merge CNA + clinical via patient ID
merged = (cna_df
.merge(sp_df, on="sampleId")
.merge(clin_pivot[["patientId", "OS_STATUS", "OS_MONTHS"]],
on="patientId", how="inner"))
merged = merged.dropna(subset=["OS_STATUS", "OS_MONTHS"])
merged["OS_MONTHS"] = pd.to_numeric(merged["OS_MONTHS"], errors="coerce")
merged["event"] = (merged["OS_STATUS"] == "1:DECEASED").astype(int)
# Simple Kaplan-Meier-style plot (manual step function)
def km_curve(df, time_col="OS_MONTHS"):
times = sorted(df[time_col].dropna().values)
surv = []
s = 1.0
n = len(times)
for i, t in enumerate(times):
s *= (1 - 1 / (n - i))
surv.append((t, s))
return surv
fig, ax = plt.subplots(figsize=(8, 5))
colors = {"Amplified": "#C0392B", "Diploid": "#2980B9"}
for status, color in colors.items():
grp = merged[merged["erbb2_status"] == status]
if len(grp) < 10:
continue
km = km_curve(grp)
times = [0] + [x[0] for x in km]
surv = [1.0] + [x[1] for x in km]
ax.step(times, surv, where="post", color=color,
label=f"ERBB2 {status} (n={len(grp)})", lw=2)
ax.set_xlabel("Overall Survival (months)")
ax.set_ylabel("Survival Probability")
ax.set_title("ERBB2 CNA Status vs. Overall Survival\nTCGA BRCA (PanCancer Atlas)")
ax.legend()
ax.set_ylim(0, 1.05)
ax.grid(True, alpha=0.3)
plt.tight_layout()
plt.savefig("erbb2_survival.png", dpi=150, bbox_inches="tight")
print(f"Saved erbb2_survival.png")
print(f"ERBB2 Amplified: {(merged['erbb2_status']=='Amplified').sum()} samples")
print(f"ERBB2 Diploid: {(merged['erbb2_status']=='Diploid').sum()} samples")
Goal: Build a gene × cancer-type alteration frequency matrix across TCGA studies.
import requests, time
import pandas as pd
import matplotlib.pyplot as plt
import numpy as np
BASE_URL = "https://www.cbioportal.org/api"
def cbio_get(endpoint, params=None):
r = requests.get(f"{BASE_URL}/{endpoint}", params=params,
headers={"Accept": "application/json"}, timeout=30)
r.raise_for_status()
return r.json()
def cbio_post(endpoint, body):
r = requests.post(f"{BASE_URL}/{endpoint}", json=body,
headers={"Accept": "application/json",
"Content-Type": "application/json"},
timeout=90)
r.raise_for_status()
return r.json()
STUDIES = {
"brca_tcga_pan_can_atlas_2018": "BRCA",
"luad_tcga_pan_can_atlas_2018": "LUAD",
"coad_tcga_pan_can_atlas_2018": "COAD",
"gbm_tcga_pan_can_atlas_2018": "GBM",
}
GENE_SYMBOLS = ["TP53", "KRAS", "PIK3CA", "EGFR", "PTEN"]
# Resolve genes
gene_list = cbio_post("genes/fetch",
{"geneIds": GENE_SYMBOLS, "geneIdType": "HUGO_GENE_SYMBOL"})
gene_map = {g["entrezGeneId"]: g["hugoGeneSymbol"] for g in gene_list}
entrez_ids = list(gene_map.keys())
freq_matrix = pd.DataFrame(index=GENE_SYMBOLS, columns=list(STUDIES.values()), dtype=float)
for study_id, label in STUDIES.items():
try:
samples = cbio_get(f"studies/{study_id}/samples", params={"projection": "ID"})
sample_ids = [s["sampleId"] for s in samples]
n_total = len(sample_ids)
profile_id = f"{study_id}_mutations"
body = {"sampleIds": sample_ids, "entrezGeneIds": entrez_ids}
muts = cbio_post(f"molecular-profiles/{profile_id}/mutations/fetch", body)
mut_df = pd.DataFrame(muts) if muts else pd.DataFrame()
for eid, symbol in gene_map.items():
if mut_df.empty:
freq_matrix.loc[symbol, label] = 0.0
else:
n_mut = mut_df[mut_df["entrezGeneId"] == eid]["sampleId"].nunique()
freq_matrix.loc[symbol, label] = n_mut / n_total * 100
time.sleep(0.2)
except Exception as e:
print(f" {label}: {e}")
freq_matrix = freq_matrix.fillna(0).astype(float)
fig, ax = plt.subplots(figsize=(7, 4))
im = ax.imshow(freq_matrix.values, cmap="YlOrRd", aspect="auto", vmin=0, vmax=80)
ax.set_xticks(range(len(freq_matrix.columns)))
ax.set_xticklabels(freq_matrix.columns, rotation=30, ha="right")
ax.set_yticks(range(len(freq_matrix.index)))
ax.set_yticklabels(freq_matrix.index)
for i in range(len(freq_matrix.index)):
for j in range(len(freq_matrix.columns)):
val = freq_matrix.iloc[i, j]
ax.text(j, i, f"{val:.0f}%", ha="center", va="center", fontsize=9,
color="white" if val > 40 else "black")
plt.colorbar(im, ax=ax, label="Mutation Frequency (%)")
ax.set_title("Somatic Mutation Frequency — TCGA PanCancer Atlas")
plt.tight_layout()
plt.savefig("mutation_frequency_heatmap.png", dpi=150, bbox_inches="tight")
print("Saved mutation_frequency_heatmap.png")
print(freq_matrix.to_string())
| Parameter | Function/Endpoint | Default | Range / Options | Effect |
|-----------|-------------------|---------|-----------------|--------|
| studyId | All study endpoints | — | any valid cBioPortal study ID | Selects the cancer study |
| molecularProfileId | mutations/fetch, molecular-data/fetch | — | {studyId}_mutations, {studyId}_gistic, etc. | Selects the data type profile |
| entrezGeneIds | mutations/fetch, molecular-data/fetch | — | list of integer Entrez IDs | Genes to query; use POST /genes/fetch to resolve symbols |
| sampleIds | mutations/fetch, molecular-data/fetch | — | list of sample ID strings | Samples to retrieve; use GET /studies/{id}/samples for all |
| clinicalDataType | clinical-data | "SAMPLE" | "SAMPLE", "PATIENT" | Whether to return sample-level or patient-level clinical attributes |
| projection | samples, clinical-data | "SUMMARY" | "ID", "SUMMARY", "DETAILED", "META" | Response verbosity; "ID" fastest for ID-only fetches |
| keyword | studies | "" | free text | Filter studies by name/cancer type keyword |
Fetch sample IDs before data queries: All mutation and molecular data endpoints require explicit sampleIds. Retrieve them with GET /studies/{studyId}/samples?projection=ID before each query.
Verify profile IDs from the API: Profile IDs are not guaranteed to follow the _mutations / _gistic pattern in every study. Always confirm with GET /molecular-profiles?studyId={studyId} rather than guessing.
Chunk large sample sets: The API can time out on requests with thousands of sample IDs. Batch requests in chunks of 500 samples with time.sleep(0.1) between chunks.
Use Entrez IDs, not Hugo symbols, in data fetch endpoints: The mutation and molecular data endpoints accept entrezGeneIds (integers). Resolve symbols first with POST /genes/fetch.
Don't hard-code Entrez IDs: Gene IDs can be looked up dynamically via the API. Hard-coded IDs become incorrect if the gene model changes. Use POST /genes/fetch to resolve gene symbols at runtime.
When to use: Before running any data query — verify which profile IDs are available.
import requests
BASE_URL = "https://www.cbioportal.org/api"
def cbio_get(endpoint, params=None):
r = requests.get(f"{BASE_URL}/{endpoint}", params=params,
headers={"Accept": "application/json"}, timeout=30)
r.raise_for_status()
return r.json()
study_id = "brca_tcga_pan_can_atlas_2018"
profiles = cbio_get("molecular-profiles", params={"studyId": study_id})
for p in profiles:
print(f"{p['molecularProfileId']:55s} {p['molecularAlterationType']}")
# brca_tcga_pan_can_atlas_2018_mutations MUTATION_EXTENDED
# brca_tcga_pan_can_atlas_2018_gistic COPY_NUMBER_ALTERATION
# brca_tcga_pan_can_atlas_2018_log2CNA COPY_NUMBER_ALTERATION
# brca_tcga_pan_can_atlas_2018_rna_seq_v2_mrna_median_normed_log2 MRNA_EXPRESSION
When to use: Export all somatic mutations from a study into MAF-compatible format for downstream analysis.
import requests, time
import pandas as pd
BASE_URL = "https://www.cbioportal.org/api"
def cbio_get(endpoint, params=None):
r = requests.get(f"{BASE_URL}/{endpoint}", params=params,
headers={"Accept": "application/json"}, timeout=60)
r.raise_for_status()
return r.json()
def cbio_post(endpoint, body):
r = requests.post(f"{BASE_URL}/{endpoint}", json=body,
headers={"Accept": "application/json",
"Content-Type": "application/json"},
timeout=120)
r.raise_for_status()
return r.json()
study_id = "coad_tcga_pan_can_atlas_2018"
profile_id = f"{study_id}_mutations"
samples = cbio_get(f"studies/{study_id}/samples", params={"projection": "ID"})
sample_ids = [s["sampleId"] for s in samples]
all_mutations = []
for i in range(0, len(sample_ids), 300):
chunk = sample_ids[i:i + 300]
muts = cbio_post(f"molecular-profiles/{profile_id}/mutations/fetch",
{"sampleIds": chunk, "entrezGeneIds": []}) # empty = all genes
all_mutations.extend(muts)
time.sleep(0.1)
mut_df = pd.DataFrame(all_mutations)
cols = ["hugoGeneSymbol", "sampleId", "chr", "startPosition", "endPosition",
"referenceAllele", "variantAllele", "mutationType",
"proteinChange", "variantType"]
available = [c for c in cols if c in mut_df.columns]
mut_df[available].to_csv(f"{study_id}_mutations.csv", index=False)
print(f"Saved {len(mut_df)} mutations → {study_id}_mutations.csv")
When to use: Extract a specific clinical variable (e.g., tumor stage, age at diagnosis) for all patients.
import requests
import pandas as pd
BASE_URL = "https://www.cbioportal.org/api"
def cbio_get(endpoint, params=None):
r = requests.get(f"{BASE_URL}/{endpoint}", params=params,
headers={"Accept": "application/json"}, timeout=30)
r.raise_for_status()
return r.json()
study_id = "brca_tcga_pan_can_atlas_2018"
# Fetch a specific clinical attribute for all patients
attr_id = "TUMOR_STAGE"
clinical = cbio_get(f"studies/{study_id}/clinical-data",
params={"clinicalDataType": "PATIENT",
"projection": "DETAILED"})
clin_df = pd.DataFrame(clinical)
if "clinicalAttributeId" in clin_df.columns:
stage_df = clin_df[clin_df["clinicalAttributeId"] == attr_id][["patientId", "value"]]
print(f"Patients with {attr_id} annotation: {len(stage_df)}")
print(stage_df["value"].value_counts().head(10).to_string())
| Problem | Cause | Solution |
|---------|-------|----------|
| 404 Not Found on profile endpoint | Molecular profile does not exist for study | List profiles with GET /molecular-profiles?studyId={id}; confirm the profile ID |
| Empty mutations list | Gene has no mutations in the selected samples/profile | Verify study has a mutation profile; check sample IDs belong to the same study |
| requests.exceptions.Timeout | Large sample set (>1000) in a single request | Chunk requests to 300–500 samples; increase timeout to 120s |
| entrezGeneIds key error in response | Hugo symbol passed instead of Entrez ID | Use POST /genes/fetch to resolve symbols to integer Entrez IDs first |
| CNA values returned as strings | value field is string in JSON | Cast with pd.to_numeric() or int(value) before comparison |
| Expression profile not found | Study uses non-standard profile naming | Check profile list; look for MRNA_EXPRESSION alteration type in GET /molecular-profiles |
| Survival analysis has many NA values | Clinical attribute absent for some patients | Use dropna() on OS columns; check attribute availability with GET /studies/{id}/clinical-attributes |
gnomad-database — population variant allele frequencies for healthy cohorts (complement to cBioPortal somatic data)cnvkit-copy-number — CNVkit pipeline for generating SEG/CNA files that can be loaded into cBioPortalpydeseq2-differential-expression — differential expression analysis that can be applied to cBioPortal RNA-seq exportstools
Fast short-read DNA aligner for WGS/WES/ChIP-seq. 2× faster BWA-MEM successor; outputs SAM/BAM with read group headers for GATK. Primary plus supplementary records for chimeric reads. Use STAR for RNA-seq splice-aware alignment; Bowtie2 is a comparable alternative.
tools
smina molecular docking CLI. AutoDock Vina fork with customizable scoring functions, native SDF/MOL2/PDB ligand input, autoboxing, local energy minimization, and per-atom score breakdowns. Pipeline: receptor PDBQT prep -> ligand prep (RDKit/OpenBabel) -> dock via autobox or explicit grid -> rescore/minimize with custom scoring -> rank poses by affinity. Choose smina over Vina when you need custom scoring terms (--custom_scoring), local optimization of an existing pose (--local_only), per-atom contributions (--atom_term_data), or SDF/MOL2 ligands without manual PDBQT conversion. For unknown binding sites use diffdock-blind-docking; for the Python-bindings/Vinardo workflow use autodock-vina-docking.
development
mdtraj molecular dynamics trajectory analysis (Python). Reads DCD/XTC/TRR/NetCDF/H5/PDB topologies and trajectories; computes RMSD vs time, radius of gyration, per-residue RMSF, residue-residue contact frequency maps, phi/psi torsions for Ramachandran plots (general + Gly/Pro), and 8-state DSSP secondary structure. Modules: trajectory I/O, geometry (distances/angles/dihedrals), structural analysis (RMSD/Rg/RMSF/SASA), contacts, hydrogen bonds, secondary structure (DSSP), NMR observables. For broader atom-selection grammar use mdanalysis-trajectory; for running MD simulations use OpenMM/GROMACS.
development
Programmatic PubMed access via NCBI E-utilities REST API. Covers Boolean/MeSH queries, field-tagged search, endpoints (ESearch, EFetch, ESummary, EPost, ELink), history server for batches, citation matching, systematic review strategies. Use for biomedical literature search or automated pipelines.