bio-clinical-databases-dbsnp-queries

Query dbSNP for rsID lookups and variant annotations via myvariant.info and NCBI Entrez APIs.

Updated Aug 23, 2026
One-click install
npx skills add https://github.com/stellaromics/fast-bioinfo --skill bio-clinical-databases-dbsnp-queries
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: bio-clinical-databases-dbsnp-queries
Source: https://github.com/stellaromics/fast-bioinfo/tree/main/.claude/agents/spatial-analysis/skills/bio-clinical-databases-dbsnp-queries
Command: npx skills add https://github.com/stellaromics/fast-bioinfo --skill bio-clinical-databases-dbsnp-queries

SYSTEM DOCUMENTATION & REQUIREMENTS

What problem does it solve?

Query dbSNP for rsID lookups, variant annotations, and cross-references to other databases. Use when mapping between rsIDs and genomic coordinates or retrieving basic variant information.

Core Features & Use Cases

  • rsID lookups: Retrieve annotations from dbSNP via myvariant.info or NCBI Entrez.
  • Coordinate mapping: Find coordinates for a given rsID or map coordinates to an rsID.
  • Cross-references: Retrieve ClinVar, ClinVar clinical significance, and gnomAD data for variant context.
  • Use Case: Integrate variant information into pipelines to annotate rsIDs across studies.

Quick Start

Provide an rsID like rs121913527 to fetch coordinates and annotations and return a structured result.

Frequently Asked Questions about bio-clinical-databases-dbsnp-queries

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

FAQPage Schema
How do I query dbSNP for rsID lookups and genomic coordinates?

To query dbSNP for rsID lookups and genomic coordinates, provide a valid rsID like rs121913527. The tool fetches annotations via myvariant.info or NCBI Entrez APIs and returns structured coordinate mappings and variant data.

Can I retrieve ClinVar and gnomAD cross-references for a dbSNP variant?

Yes, you can retrieve ClinVar and gnomAD cross-references for a dbSNP variant. The tool queries dbSNP annotations and returns associated ClinVar clinical significance and gnomAD data for added variant context.

Does this dbSNP query tool support batch rsID lookups in bioinformatics workflows?

Yes, this dbSNP query tool supports batch rsID lookups in bioinformatics workflows. It integrates with myvariant.info and NCBI Entrez APIs to process multiple rsIDs and return structured results with validation and error handling.

What is the best way to map genomic coordinates to a dbSNP rsID?

The best way to map genomic coordinates to a dbSNP rsID is by querying the dbSNP database through this tool. It performs coordinate mapping and cross-reference retrieval to accurately link genomic locations to their corresponding rsIDs.

How do I integrate variant annotations from dbSNP across multiple studies?

To integrate variant annotations from dbSNP across multiple studies, use this tool to annotate rsIDs with structured variant information. It retrieves coordinates and cross-references from myvariant.info and NCBI Entrez, providing consistent results for pipeline integration.

Are there limitations when mapping coordinates for rsIDs not found in dbSNP?

When mapping coordinates for rsIDs not found in dbSNP, the tool's built-in validation and error handling manages the lookup failure. It relies on myvariant.info and NCBI Entrez APIs, so results depend on the variant data present in those specific databases.