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gwas-database

Query the NHGRI-EBI GWAS Catalog REST API for SNP-trait associations by rs ID or trait.

94|11|Updated Mar 26, 2026
Search Tags:#api#bioinformatics#associations#gwas#variant#snp#gwas-catalog
One-click install
npx skills add https://github.com/swaruplab/operon --skill gwas-database-swaruplab
Or copy as Structured Prompt for Agent▼
Please help me install this Agent Skill.
Skill: gwas-database
Source: https://github.com/swaruplab/operon/tree/main/src-tauri/protocols/gwas-database
Command: npx skills add https://github.com/swaruplab/operon --skill gwas-database-swaruplab

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

Researchers need programmatic access to the NHGRI-EBI GWAS Catalog to retrieve SNP-trait associations, study metadata, and summary statistics without manual browsing.

Core Features & Use Cases

  • Query GWAS Catalog for SNP-level associations by rs ID or trait, including p-values and key statistics.
  • Retrieve variant coordinates, linked genes, and study metadata across multiple studies.
  • Access summary statistics via the Summary Statistics API for downstream analyses like polygenic risk scores and cross-study synthesis.

Quick Start

Use the GWAS Catalog REST API to fetch associations for trait EFO_0001360 and display the top genome-wide significant variants.

Frequently Asked Questions about gwas-database

High-intent search queries and answers about installing and using this skill.

FAQPage Schema
How do I query GWAS Catalog for SNP-trait associations by rs ID?▼

Query GWAS Catalog SNP-trait associations by providing a variant rs ID to retrieve linked p-values, statistics, variant coordinates, and study metadata. The Skill interfaces with the GWAS Catalog REST API to return structured association results.

Can I retrieve summary statistics from the GWAS Catalog for downstream polygenic risk score analysis?▼

Retrieve summary statistics from the GWAS Catalog using the Summary Statistics API for downstream analyses like polygenic risk scores. The Skill supports pagination and HAL-based navigation to fetch structured summary data across studies and cohorts.

How do I search the GWAS Catalog for trait associations using EFO identifiers?▼

Search GWAS Catalog trait associations by querying with EFO identifiers like EFO_0001360 to fetch genome-wide significant variants. The Skill returns associated SNPs, p-values, and variant coordinates structured for downstream genetic analyses.

Does the GWAS Catalog API support gene-based queries to find variant associations?▼

Gene-based queries are supported to find variant associations through the GWAS Catalog REST API. You can retrieve linked genes, variant coordinates, p-values, and study metadata across multiple studies without manual browsing.

What's the best way to programmatically access NHGRI-EBI GWAS Catalog study metadata and variant coordinates?▼

Programmatically access NHGRI-EBI GWAS Catalog study metadata and variant coordinates via the REST API and Summary Statistics API. The Skill supports pagination and HAL-based navigation, returning structured results suitable for cross-study synthesis and genetic analyses.

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