GWAS Catalog Database

Overview

The GWAS Catalog is a curated repository of published genome-wide association studies maintained by NHGRI and EBI. It contains SNP-trait associations from thousands of GWAS publications — genetic variants, associated traits and diseases, p-values, effect sizes, and full summary statistics for many studies.

Scripts

scripts/query_gwas.py — query the GWAS Catalog REST API (stdlib only, JSON to stdout):

python scripts/query_gwas.py variant rs7903146           # associations for a SNP
python scripts/query_gwas.py trait MONDO_0005148 --size 100  # associations for a trait
python scripts/query_gwas.py study GCST001795            # study metadata

When to Use This Skill