gtex-database

Retrieve tissue-specific gene expression, eQTLs, and sQTLs from the GTEx Portal API.

783|65|Updated Feb 27, 2026
One-click install
npx skills add https://github.com/LeonChaoX/qinyan-academic-skills --skill gtex-database-leonchaox
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: gtex-database
Source: https://github.com/LeonChaoX/qinyan-academic-skills/tree/main/skills/12-%E7%A7%91%E5%AD%A6%E6%95%B0%E6%8D%AE%E5%BA%93/gtex-database
Command: npx skills add https://github.com/LeonChaoX/qinyan-academic-skills --skill gtex-database-leonchaox

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

GTEx helps you connect non-coding genetic variants from GWAS to the genes and tissues they regulate by querying tissue-specific gene expression, eQTLs, and sQTLs without manual dataset wrangling.

Core Features & Use Cases

  • Tissue-specific gene expression: Retrieve median expression levels (TPM) across GTEx tissues to identify where a gene is most active.
  • eQTL and variant-to-gene linking: Query single-tissue eQTLs by gene or by variant to find regulatory associations and effect sizes.
  • Splicing QTL (sQTL) lookup: Identify variants affecting splicing in specific tissues for mechanism-focused interpretation.
  • eGene discovery: List eGenes active in a chosen tissue to support multi-tissue prioritization and downstream colocalization.

Quick Start

Use the gtex-database skill to query eQTLs for a given GWAS GTEx variant ID (chr{chrom}{pos}{ref}_{alt}_b38) and return tissue-specific regulated genes with p-values and effect directions.

Frequently Asked Questions about gtex-database

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

FAQPage Schema
How do I interpret GWAS variants using GTEx eQTLs?

To interpret GWAS variants using GTEx eQTLs, you query the GTEx Portal API with a specific variant ID to retrieve tissue-specific regulatory associations, effect sizes, and p-values. This maps non-coding variants to their regulated genes.

How do I find tissue-specific gene expression levels for a specific gene?

Finding tissue-specific gene expression requires querying the GTEx API with a gene identifier to retrieve median TPM levels across various tissues. This identifies where your gene is most actively expressed within the gtex_v10 dataset.

Can I use GTEx sQTLs to identify variants affecting splicing mechanisms?

Yes, you can use GTEx sQTLs to identify variants affecting splicing. Query the API by variant or gene to retrieve splicing quantitative trait loci, supporting mechanism-focused interpretation for specific tissueSiteDetailId datasets.

What format is required for GTEx variant IDs to query the API?

GTEx variant IDs require the format chr{chrom}_{pos}_{ref}_{alt}_b38. Using this exact identifier structure ensures successful JSON retrieval from GTEx REST API v2 endpoints when mapping variants to genes.

Does querying large GTEx datasets require handling API pagination?

Yes, retrieving large result sets from the GTEx API requires handling pagination. When discovering eGenes active in a chosen tissue for multi-tissue prioritization, the query workflow manages pagination to return complete JSON responses.

What is the best way to prioritize genes for downstream colocalization across multiple tissues?

The best way to prioritize genes for colocalization is listing eGenes active in a chosen tissue via the GTEx API. This retrieves tissue-specific regulatory data, supporting multi-tissue prioritization workflows for your downstream analysis.