gwas-database

Query GWAS Catalog for SNP-trait associations with p-values and study metadata.

21|1|Updated Mar 19, 2026
One-click install
npx skills add https://github.com/OwnLabAI/ownlab --skill gwas-database-ownlabai
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: gwas-database
Source: https://github.com/OwnLabAI/ownlab/tree/main/mart/skills/scientific-skills/gwas-database
Command: npx skills add https://github.com/OwnLabAI/ownlab --skill gwas-database-ownlabai

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

Quickly access GWAS Catalog data to identify SNP-trait associations, retrieve p-values, studied variants, and summary statistics for genetic research and risk studies.

Core Features & Use Cases

  • Variant-centric lookups: fetch associations for a given rsID and retrieve effect sizes and p-values.
  • Trait- and gene-centric queries: explore associations by disease/trait or nearby genes, with study metadata.
  • Cross-resource integration: link results to Ensembl/dbSNP and obtain summary statistics when available.
  • Use case: researchers tracing a variant’s pleiotropic effects across phenotypes and cohorts.

Quick Start

Query the API to fetch associations for a specified rsID or trait.

Frequently Asked Questions about gwas-database

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

FAQPage Schema
How do I retrieve SNP-trait associations and p-values from the GWAS Catalog?

To retrieve SNP-trait associations and p-values from the GWAS Catalog, use variant-centered queries with a specific rsID to fetch matching effect sizes, study metadata, and available summary statistics.

Can I search GWAS summary statistics by trait or gene instead of rsID?

Yes, you can search GWAS summary statistics by trait or gene using trait-centered and gene-centered queries, which return associated variants, p-values, and relevant study metadata across multiple cohorts.

What is the best way to query pleiotropic effects of a variant across different phenotypes?

The best way to query pleiotropic effects of a variant across phenotypes is using variant-centered lookups by rsID to fetch all associated traits, effect sizes, and p-values from the GWAS Catalog.

Does this GWAS Catalog API support pagination and cross-references to Ensembl and dbSNP?

Yes, the GWAS Catalog API supports REST API navigation with HAL, pagination for large result sets, and cross-references to external resources like Ensembl and dbSNP for variant details.

How do I filter GWAS association analysis results by significance?

You can filter GWAS association analysis results by significance by applying p-value thresholds to the retrieved variant associations, allowing you to isolate statistically significant SNP-trait findings.

Are there rate limits when accessing genetic epidemiology data through the REST API?

Yes, the system guides robust, rate-limited data access to the GWAS Catalog REST API, ensuring stable queries for genetic epidemiology data without exceeding external server request thresholds.