Medical & Healthcare
Annotating Variants
Annotates VCF variants and normalizes HGVS nomenclature with public, license-free annotators (Ensembl VEP REST, VEP/SnpEff/ANNOVAR offline) and links variants to gnomAD population frequencies and the clinical context OpenMed extracts. Use when the user wants to predict variant consequences, map HGVS to genomic coordinates, annotate a VCF, attach allele frequencies, or pair variants with phenotype/oncology context. Trigger keywords: VCF, HGVS, variant annotation, VEP, SnpEff, ANNOVAR, consequence, missense, gnomAD, allele frequency, GRCh38, rsID, transcript. Pairs adjacent to OpenMed: combine annotated variants with Genomics/Oncology entities and phenotype from openmed.analyze_text. Tools used are free; restricted clinical databases are user-supplied.
- Publisher / source
- maziyarpanahi/openmed (found on GitHub top repositories)
- Upstream record
- maziyarpanahi/openmed
- Version
- Version 1
- Published
- Publication review
- Approved for publication · recorded passed scan 2026-11-05
- Content fingerprint
b5f6c5fe74e14f757191b886bf0da895e0432957b782eaa29f8835300079cfff