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Research tool·structure·litvar

LitVar Get Variant Details

Get the full structured variant record from NCBI LitVar2 by rsID (the 'variant/get' endpoint, WITHOUT the publications list). Given a dbSNP rsID, returns a single normalized record combining: ClinGen canonical allele IDs (CA...), associated gene(s), variant name and HGVS notation, genomic chromosome:position (data_chromosome_base_position), allele, SNP class (e.g. snv), species and NCBI tax id, the literature-derived clinical-significance set (data_clinical_significance), and, when available, A…

AvailableCortexa

Overview

Get the full structured variant record from NCBI LitVar2 by rsID (the 'variant/get' endpoint, WITHOUT the publications list). Given a dbSNP rsID, returns a single normalized record combining: ClinGen canonical allele IDs (CA...), associated gene(s), variant name and HGVS notation, genomic chromosome:position (data_chromosome_base_position), allele, SNP class (e.g. snv), species and NCBI tax id, the literature-derived clinical-significance set (data_clinical_significance), and, when available, ALFA minor allele frequency (data_maf). This is the variant 'profile' record - use LitVar_get_variant_publications for the list of citing PMIDs, or LitVar_search_variants to find an rsID from a gene or HGVS query.

Schema

JSON Schema the agent (or your API call) must match.

View JSON schemaExpandCollapse
JSON · 12 lines · 326 chars

Examples (1)

Default LitVar Get Variant Details call

Public-safe example · rate-limited

JSON input · 3 lines · 27 chars
Expected response keys: success

Identifiers

Catalog ID
tu_LitVar_get_variant_details
Tool name
LitVar_get_variant_details
Added
2026-07-29 18:13Z
Tags
tooluniverse
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