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Query the NHGRI-EBI GWAS Catalog for SNP-trait associations, variant lookups, trait searches, and summary statistics for genetic epidemiology and PRS work.
This skill equips an agent to query the NHGRI-EBI GWAS Catalog and its Summary Statistics API to find SNP-trait associations, retrieve variant metadata (rsIDs, coordinates, alleles), and pull study-level and summary-statistics data useful for genetic epidemiology and polygenic risk score (PRS) workflows. It documents REST endpoints, query patterns, and example Python snippets for common tasks (by variant, by trait/EFO term, by gene or chromosomal region).
Use this skill when a user asks about genetic variant associations, wants to look up an rsID, explore GWAS hits for a disease/trait, obtain study metadata (GCST/PMID), or download/inspect summary statistics for downstream analyses (fine-mapping, PRS). It also applies when integrating GWAS data with external resources like Ensembl, gnomAD, or PGS Catalog.
Designed for code-capable agents that can run Python and make HTTP requests (Claude Code / codex-style toolchains, Copilot-like assistants). The skill assumes access to network and Python runtime for API calls.
This skill has not been reviewed by our automated audit pipeline yet.
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