ClinGenAR Lookup By External ID
Reverse-lookup the ClinGen Allele Registry by an external identifier. Given a dbSNP rsID (dbsnp_rs) or a ClinVar VariationID (clinvar_variation_id), resolves it to the canonical ClinGen allele (CA id) and returns ALL cross-references (ClinVar alleles/variations, dbSNP, COSMIC, gnomAD, MyVariantInfo) plus the community standard HGVS title and genomic allele HGVS. This complements ClinGenAR_lookup_allele (which takes an HGVS expression): use this when you start from an rsID or ClinVar variation i…
Overview
Reverse-lookup the ClinGen Allele Registry by an external identifier. Given a dbSNP rsID (dbsnp_rs) or a ClinVar VariationID (clinvar_variation_id), resolves it to the canonical ClinGen allele (CA id) and returns ALL cross-references (ClinVar alleles/variations, dbSNP, COSMIC, gnomAD, MyVariantInfo) plus the community standard HGVS title and genomic allele HGVS. This complements ClinGenAR_lookup_allele (which takes an HGVS expression): use this when you start from an rsID or ClinVar variation id instead of HGVS. Example: dbsnp_rs=113488022 -> CA123643, 'NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)', incl COSM476; clinvar_variation_id=13961 resolves to the same CA123643 record. Public API, no key required.
Schema
JSON Schema the agent (or your API call) must match.
Examples (1)
Default ClinGenAR Lookup By External ID call
Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_ClinGenAR_lookup_by_external_id
- Tool name
- ClinGenAR_lookup_by_external_id
- Added
- 2026-07-29 18:13Z
- Tags
- tooluniverse