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Research Safe Moderate Evidence

EnsemblVEP variant recoder

by Harvard MIMS Lab (ToolUniverse)

Description

Convert genetic variant identifiers between different nomenclature formats using the Ensembl Variant Recoder. Given a variant ID (e.g., rs number), returns equivalent representations in HGVS genomic (hgvsg), HGVS coding (hgvsc), HGVS protein (hgvsp), and SPDI format. Essential for cross-referencing variants across databases that use different notation systems. Example: 'rs429358' returns HGVS coding notation for all APOE transcripts.

Quick Install

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Installation

pip install tooluniverse

Status

Published

Reviewer

Automated import

Date Added

2026-03-30

Tags

tooluniverse ensembl-vep variant-effect-prediction annotation