regulomedb-database

Query the RegulomeDB v2 REST API to score genetic variants for regulatory function.

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

SYSTEM DOCUMENTATION & REQUIREMENTS

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

What problem does it solve?

This Skill helps researchers prioritize genetic variants identified in studies like GWAS by scoring their potential regulatory function, thereby identifying variants most likely to be biologically active and relevant to disease or traits.

Core Features & Use Cases

  • Variant Scoring: Assigns a score (1a-7) indicating the strength of regulatory evidence (e.g., TF binding, eQTLs, chromatin accessibility) for a given variant.
  • Batch Processing: Scores lists of variants efficiently.
  • Region Analysis: Identifies all regulatory variants within a specified genomic region.
  • Annotation Details: Retrieves detailed evidence for a variant's regulatory role.
  • Use Case: You have a list of SNPs from a GWAS study. Use this Skill to score each SNP and identify those with the highest regulatory potential (scores 1a-2b) for further experimental validation.

Quick Start

Use the regulomedb-database skill to score the variant rs4946036.

Frequently Asked Questions about regulomedb-database

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

FAQPage Schema
How do I score genetic variants for regulatory function from a GWAS study?

To batch score SNPs for regulatory function, you provide a list of variants to the RegulomeDB v2 REST API. It returns scores from 1a to 7 based on evidence like chromatin accessibility, allowing you to identify high-priority variants for experimental validation.

What does a RegulomeDB score of 1a mean for variant annotation?

A RegulomeDB score of 1a indicates strong regulatory evidence for a genetic variant, such as TF binding or eQTLs. Scores range from 1a to 7, where lower values signify higher regulatory potential to help prioritize variants for disease studies.

Can I identify all regulatory variants within a specific genomic region?

Yes, you can identify regulatory variants within a genomic region using region-based searches via the RegulomeDB v2 REST API. This retrieves overlapping regulatory evidence and scores for all variants located in that specified chromosomal interval.

How do I retrieve detailed epigenetic evidence for a single genetic variant?

You retrieve detailed epigenetic evidence for a single genetic variant by requesting annotation details from the RegulomeDB v2 REST API. This provides overlapping regulatory evidence including TF binding, eQTLs, and chromatin accessibility data.

Does this variant annotation approach work with Python pandas and matplotlib?

Yes, this variant annotation method uses Python requests and pandas for data handling and API interaction with RegulomeDB v2. Matplotlib is also included as a dependency for visualizing the retrieved regulatory scores and evidence.