COSMIC Somatic Cancer Mutations Database

Overview

COSMIC (Catalogue Of Somatic Mutations In Cancer) is the world's largest expert-curated database of somatic mutations in cancer, covering 6.7M+ coding mutations, 40,000+ cancer samples, 19,000+ genes across all cancer types. It includes the Cancer Gene Census (critical cancer genes), mutational signatures (SBS, DBS, ID), drug resistance variants, copy number data, gene expression, and methylation. The REST API v3.1 enables programmatic queries; most features are freely accessible after registration.

When to Use

Checking whether a specific somatic variant in a cancer gene is annotated in COSMIC (frequency, cancer type distribution)
Retrieving all somatic mutations in a gene of interest across COSMIC cancer samples
Accessing COSMIC Cancer Gene Census classifications (Tier 1/2, role: oncogene/TSG/fusion)
Looking up mutational signature attributions for samples or cancer types
Identifying drug resistance variants (pharmacogenomic data) from COSMIC drug resistance database
Building cancer driver gene lists for bioinformatic pipelines
For germline/inherited variants use clinvar-database; for drug-target associations use opentargets-database

Prerequisites

Python packages: requests, pandas
Data requirements: gene symbols (HGNC), COSMIC mutation IDs (COSM), sample IDs, or genomic coordinates
Environment: internet connection; free account registration at https://cancer.sanger.ac.uk/cosmic/register
Rate limits: authenticated requests only; 10 requests/second max; API key required

pip install requests pandas
# Register at https://cancer.sanger.ac.uk/cosmic/register to obtain API credentials

Quick Start

import requests
import base64

# COSMIC API requires base64-encoded email:password authentication
EMAIL = "your_registered@email.com"
PASSWORD = "your_password"
token = base64.b64encode(f"{EMAIL}:{PASSWORD}".encode()).decode()

BASE = "https://cancer.sanger.ac.uk/cosmic/api"
HEADERS = {"Authorization": f"Basic {token}"}

# Get mutations for KRAS gene
r = requests.get(f"{BASE}/mutations",
                 headers=HEADERS,
                 params={"gene_name": "KRAS", "limit": 5})
r.raise_for_status()
data = r.json()
print(f"Total KRAS mutations: {data['meta']['total']}")
for m in data["data"][:3]:
    print(f"  {m['mutation_id']:15s} AA: {m.get('mutation_aa')} | Cancer: {m.get('primary_site')}")

Core API

Query 1: Gene Mutations Search

Retrieve all COSMIC somatic mutations for a gene, with cancer type and amino acid change.

import requests, base64, pandas as pd

EMAIL = "your@email.com"
PASSWORD = "your_password"
token = base64.b64encode(f"{EMAIL}:{PASSWORD}".encode()).decode()

BASE = "https://cancer.sanger.ac.uk/cosmic/api"
HEADERS = {"Authorization": f"Basic {token}"}

def get_gene_mutations(gene, limit=100, cancer_site=None):
    params = {"gene_name": gene, "limit": limit}
    if cancer_site:
        params["primary_site"] = cancer_site
    r = requests.get(f"{BASE}/mutations", headers=HEADERS, params=params)
    r.raise_for_status()
    return r.json()

data = get_gene_mutations("TP53", limit=20)
print(f"Total TP53 mutations in COSMIC: {data['meta']['total']}")

rows = []
for m in data["data"][:10]:
    rows.append({
        "mutation_id": m.get("mutation_id"),
        "mutation_aa": m.get("mutation_aa"),
        "mutation_cds": m.get("mutation_cds"),
        "primary_site": m.get("primary_site"),
        "histology": m.get("primary_histology"),
        "count": m.get("count"),
    })
df = pd.DataFrame(rows)
print(df.head())

# Filter by cancer site
data_lung = get_gene_mutations("TP53", cancer_site="lung", limit=20)
print(f"\nTP53 mutations in lung cancer: {data_lung['meta']['total']}")

Query 2: Cancer Gene Census

Retrieve the COSMIC Cancer Gene Census — classified cancer driver genes.

import requests, base64, pandas as pd

EMAIL = "your@email.com"
PASSWORD = "your_password"
token = base64.b64encode(f"{EMAIL}:{PASSWORD}".encode()).decode()

BASE = "https://cancer.sanger.ac.uk/cosmic/api"
HEADERS = {"Authorization": f"Basic {token}"}

r = requests.get(f"{BASE}/genes", headers=HEADERS, params={"limit": 100})
r.raise_for_status()
data = r.json()
print(f"Total genes in COSMIC: {data['meta']['total']}")

# Get Cancer Gene Census genes
r_cgc = requests.get(f"{BASE}/genes",
                     headers=HEADERS,
                     params={"cgc_tier": "1", "limit": 50})
cgc_data = r_cgc.json()
print(f"\nCGC Tier 1 genes: {cgc_data['meta']['total']}")

rows = []
for g in cgc_data["data"][:15]:
    rows.append({
        "gene": g.get("gene_name"),
        "tier": g.get("cgc_tier"),
        "role": g.get("role_in_cancer"),
        "mutation_types": g.get("mutation_types"),
        "tumour_types": str(g.get("tumour_types_somatic", []))[:80],
    })
df = pd.DataFrame(rows)
print(df.to_string(index=False))

Query 3: Specific Mutation Lookup

Retrieve details for a known COSMIC mutation ID (COSM…).

import requests, base64

EMAIL = "your@email.com"
PASSWORD = "your_password"
token = base64.b64encode(f"{EMAIL}:{PASSWORD}".encode()).decode()

BASE = "https://cancer.sanger.ac.uk/cosmic/api"
HEADERS = {"Authorization": f"Basic {token}"}

# KRAS G12D mutation
mutation_id = "COSM521"
r = requests.get(f"{BASE}/mutations/{mutation_id}", headers=HEADERS)
r.raise_for_status()
m = r.json()

print(f"Mutation ID : {m.get('mutation_id')}")
print(f"Gene        : {m.get('gene_name')}")
print(f"AA change   : {m.get('mutation_aa')}")
print(f"CDS change  : {m.get('mutation_cds')}")
print(f"Substitution: {m.get('mutation_description')}")
print(f"Count       : {m.get('count')} samples")
print(f"Cancer types: {str(m.get('cancer_types', []))[:100]}")

Query 4: Sample-Level Mutation Data

Retrieve all somatic mutations for a specific cancer sample.

import requests, base64, pandas as pd

EMAIL = "your@email.com"
PASSWORD = "your_password"
token = base64.b64encode(f"{EMAIL}:{PASSWORD}".encode()).decode()

BASE = "https://cancer.sanger.ac.uk/cosmic/api"
HEADERS = {"Authorization": f"Basic {token}"}

# Search for a specific sample
r = requests.get(f"{BASE}/samples",
                 headers=HEADERS,
                 params={"primary_site": "breast", "limit": 5})
r.raise_for_status()
samples = r.json()["data"]
print(f"Example breast cancer samples:")
for s in samples[:3]:
    print(f"  {s.get('sample_id')}: {s.get('sample_name')} | {s.get('primary_histology')}")

# Get mutations for a specific sample
if samples:
    sample_id = samples[0]["sample_id"]
    r2 = requests.get(f"{BASE}/samples/{sample_id}/mutations", headers=HEADERS)
    if r2.ok:
        muts = r2.json()["data"]
        print(f"\nMutations in sample {sample_id}: {len(muts)}")
        for m in muts[:5]:
            print(f"  {m.get('gene_name'):10s} {m.get('mutation_aa')}")

Query 5: Mutational Signatures

Retrieve COSMIC mutational signature data for cancer types.

import requests, base64, pandas as pd

EMAIL = "your@email.com"
PASSWORD = "your_password"
token = base64.b64encode(f"{EMAIL}:{PASSWORD}".encode()).decode()

BASE = "https://cancer.sanger.ac.uk/cosmic/api"
HEADERS = {"Authorization": f"Basic {token}"}

# List available mutational signatures
r = requests.get(f"{BASE}/signatures", headers=HEADERS)
r.raise_for_status()
sigs = r.json()["data"]
print(f"COSMIC mutational signatures: {len(sigs)}")
for s in sigs[:5]:
    print(f"  {s.get('signature_name')}: {s.get('aetiology', '')[:80]}")

# Get signature attributions by cancer type
r2 = requests.get(f"{BASE}/signatures/attributions",
                  headers=HEADERS,
                  params={"cancer_type": "Breast", "limit": 10})
if r2.ok:
    attributions = r2.json()["data"]
    for a in attributions[:5]:
        print(f"  {a.get('signature_name')}: {a.get('attribution_proportion'):.2%} in breast cancer")

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cosmic-database

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Cole no README do seu repo

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