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Cortexa research tool·genomics·gprofiler

GProfiler Annotate Snps

Map SNP rsIDs to genes and annotate their functional consequences using g:Profiler (g:SNPense) from the University of Tartu. Given a list of SNP rsIDs, returns the chromosome, position, strand, associated Ensembl gene IDs, gene names, and predicted variant consequences (missense_variant, synonymous_variant, intron_variant, etc.) with counts. Useful for annotating GWAS hits, linking variants to genes, or understanding the functional impact of SNPs. Example: 'rs11540652' maps to chromosome 17 pos…

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Overview

Map SNP rsIDs to genes and annotate their functional consequences using g:Profiler (g:SNPense) from the University of Tartu. Given a list of SNP rsIDs, returns the chromosome, position, strand, associated Ensembl gene IDs, gene names, and predicted variant consequences (missense_variant, synonymous_variant, intron_variant, etc.) with counts. Useful for annotating GWAS hits, linking variants to genes, or understanding the functional impact of SNPs. Example: 'rs11540652' maps to chromosome 17 position 7674220, gene TP53 (ENSG00000141510), with 18 missense variant consequences; 'rs429358' maps to APOE on chromosome 19.

Schema

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

JSON · 16 lines · 449 chars

Examples (1)

Default GProfiler Annotate Snps call

public-safeinput
JSON · 3 lines · 20 chars
Expected response keys: success

Anonymous-safe example. Rate-limited; no sign-in required.

Identifiers

Catalog ID
tu_gProfiler_annotate_snps
Tool name
gProfiler_annotate_snps
Added
2026-04-30 22:47Z
Tags
tooluniverse
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