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db-gwas

Query the NHGRI-EBI GWAS Catalog API for SNP-trait associations and summary statistics.

Updated Mar 13, 2026
Search Tags:#bioinformatics#genetics#gwas#snp#trait association#genomic data
One-click install
npx skills add https://github.com/biomaps-infra/blender-opencode --skill db-gwas
Or copy as Structured Prompt for Agent▼
Please help me install this Agent Skill.
Skill: db-gwas
Source: https://github.com/biomaps-infra/blender-opencode/tree/main/.opencode/skills/db-gwas
Command: npx skills add https://github.com/biomaps-infra/blender-opencode --skill db-gwas

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

This Skill provides programmatic access to the NHGRI-EBI GWAS Catalog, enabling users to efficiently query and retrieve information on SNP-trait associations, study metadata, and summary statistics, thereby accelerating genetic epidemiology research.

Core Features & Use Cases

  • SNP-Trait Association Lookup: Find genetic variants (SNPs) associated with specific diseases or traits, and retrieve their p-values and effect sizes.
  • Variant Information Retrieval: Get detailed information about a specific SNP, including its genomic location and all associated traits.
  • Trait-Based Searching: Discover all genetic variants linked to a particular disease or phenotype.
  • Summary Statistics Access: Retrieve detailed summary statistics for genome-wide association studies.
  • Use Case: A researcher wants to identify all SNPs associated with Type 2 Diabetes with a p-value less than 1e-9 and retrieve their effect sizes and risk alleles.

Quick Start

Use the db-gwas skill to find all SNP associations for the trait 'EFO_0001360' with a p-value less than 1e-8.

Frequently Asked Questions about db-gwas

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

FAQPage Schema
How do I find SNPs associated with a specific disease or trait using the GWAS Catalog?▼

To find SNP-trait associations, query the GWAS Catalog by disease or trait name to retrieve associated variants, p-values, effect sizes, and risk alleles. You can also search by EFO identifier for precise trait matching.

Can I retrieve GWAS summary statistics for genome-wide association studies programmatically?▼

Yes, you can access raw summary statistics for genome-wide association studies through the NHGRI-EBI GWAS Catalog API, supporting polygenic risk score development and genetic epidemiology research.

How do I filter SNP-trait associations by p-value threshold for genetic epidemiology research?▼

Filter SNP-trait associations by applying a p-value threshold, such as less than 1e-8, to your GWAS Catalog query to identify statistically significant variants and retrieve their effect sizes.

What search criteria does the GWAS Catalog API support for finding trait associations?▼

The GWAS Catalog API supports searching by variant ID (rs ID), disease or trait name, gene, and chromosomal region to retrieve curated SNP-trait association data and study metadata.

Do I need specific gene or chromosomal region identifiers to query the GWAS Catalog?▼

You can query using gene names or chromosomal regions to discover genetic variants linked to particular phenotypes, but variant rs IDs and trait names are also accepted for flexible searching.

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