gwas-database

Query the NHGRI-EBI GWAS Catalog REST API for SNP-trait associations and studies.

298|27|Updated Feb 18, 2026
One-click install
npx skills add https://github.com/jaechang-hits/SciAgent-Skills --skill gwas-database-jaechang-hits
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: gwas-database
Source: https://github.com/jaechang-hits/SciAgent-Skills/tree/main/skills/genomics-bioinformatics/gwas-database
Command: npx skills add https://github.com/jaechang-hits/SciAgent-Skills --skill gwas-database-jaechang-hits

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill requires requests, matplotlib, numpy, and includes scripts (resource) and references (resource) components.

What problem does it solve?

This Skill provides programmatic access to the NHGRI-EBI GWAS Catalog, enabling users to query SNP-trait associations from published genome-wide association studies, streamlining genetic data analysis.

Core Features & Use Cases

  • SNP-Trait Association Queries: Find genetic variants linked to specific diseases or traits.
  • Study and Variant Lookup: Retrieve details about GWAS studies and individual SNPs (rs IDs).
  • Summary Statistics Access: Locate and download summary statistics for downstream analysis.
  • Use Case: Identify all SNPs associated with Alzheimer's disease and download their summary statistics for further investigation into genetic risk factors.

Quick Start

Find studies associated with the trait 'diabetes'.

Frequently Asked Questions about gwas-database

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

FAQPage Schema
How do I programmatically query SNP-trait associations from the GWAS Catalog?

Programmatically query SNP-trait associations by accessing the NHGRI-EBI GWAS Catalog REST API. This approach retrieves published genome-wide association data, returning HAL+JSON responses with built-in pagination to streamline genetic data analysis.

Can I find studies and summary statistics for a specific trait like Alzheimer's disease?

You can find studies and summary statistics for a specific trait like Alzheimer's disease by filtering GWAS Catalog queries. This retrieves associated SNPs and enables downloading summary statistics for downstream investigation into genetic risk factors.

What filtering options are available when accessing GWAS summary statistics?

Filtering options for accessing GWAS summary statistics include trait, variant, gene, and study accession. This allows precise retrieval of specific genetic associations and published genome-wide study data via the REST API.

Does this approach work with Python data analysis libraries like matplotlib and numpy?

This approach works with Python data analysis libraries like matplotlib and numpy. It leverages these dependencies alongside requests to query the GWAS Catalog API and process the returned HAL+JSON association data.

What is the best way to retrieve rs ID variant details from published genome-wide association studies?

The best way to retrieve rs ID variant details from published genome-wide association studies is querying the NHGRI-EBI GWAS Catalog REST API. It provides direct programmatic lookup of individual SNPs and variant-trait associations.

Are there limitations to the HAL+JSON pagination when retrieving large sets of genomic variants?

A limitation of retrieving large sets of genomic variants is navigating the HAL+JSON pagination structure. Built-in pagination handles large result sets from the GWAS Catalog REST API, but requires programmatic iteration to compile complete genomic data.