Data & ReproClinical MedicineFreedomIntelligence/OpenClaw-Medical-SkillsData & Reproduction
BI

bio-clinical-databases-dbsnp-queries

Maintainer FreedomIntelligence · Last updated April 1, 2026

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.

OpenClawNanoClawAnalysisReproductionbio-clinical-databases-dbsnp-queries🧬 bioinformatics (gptomics bio-* suite)bioinformatics — clinical databases & variant analysisquery

Original source

FreedomIntelligence/OpenClaw-Medical-Skills

https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/bio-clinical-databases-dbsnp-queries

Maintainer
FreedomIntelligence
License
MIT
Last updated
April 1, 2026

Skill Snapshot

Key Details From SKILL.md

2 min

Key Notes

  • Python: myvariant.MyVariantInfo().getvariant('rs12345').
  • Look up variant information by rsID" → Retrieve variant annotations, genomic coordinates, and cross-references to ClinVar/gnomAD from dbSNP using REST API queries. Python: myvariant.MyVariantInfo().getvariant('rs12345').
  • Goal: Retrieve variant information including dbSNP, ClinVar, and gnomAD annotations by rsID.
  • Approach: Query myvariant.info with the rsID and request specific annotation fields.

Source Doc

Excerpt From SKILL.md

Query via NCBI Entrez

Goal: Search and fetch dbSNP records directly from NCBI using Entrez E-utilities.

Approach: Use BioPython Entrez esearch to find SNP IDs, then efetch to retrieve full XML records.

Map Coordinates to rsID

Goal: Find the rsID corresponding to a genomic position and allele change.

Approach: Construct an HGVS notation from coordinates and query myvariant.info for the dbSNP rsID field.

Variant Classes in dbSNP

ClassDescription
snvSingle nucleotide variant
insInsertion
delDeletion
indelInsertion/deletion
mnvMultiple nucleotide variant

Use cases

  • Use when mapping between rsIDs and genomic coordinates or retrieving basic variant information.

Not for

  • Do not rely on this catalog entry alone for installation or maintenance details.

Upstream Related Skills

  • myvariant-queries - Aggregated variant queries
  • clinvar-lookup - ClinVar pathogenicity
  • database-access/entrez-search - General Entrez queries

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