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VariantValidator

Accurate validation, mapping and formatting of sequence variants using HGVS nomenclature.

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What We Do


We validate HGVS sequence variation descriptions, accurately mapping between transcript and genomic variants. We also automate conversion of genomic (VCF) sequence variation descriptions into the HGVS format and vice-versa.

VariantValidator auto-corrects your mistakes if it can and helps you correct your own if it can't. We provide a range of tools to meet your needs including batch processing, a VCF file converter and API access.

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VariantValidator
version 1.0.4.dev42+gbb2b0b7
vv_hgvs
version 1.2.5.vv1
UTA
release uta_20180821
SeqRepo
release 2018-08-21

Validator

Validate your variant descriptions using HGVS nomenclature.

Batch Validator

Validate multiple variant descriptions at once.

VCF to HGVS

Convert VCF files to validated HGVS variants.

Gene to Transcript

Identify all transcripts from a gene symbol.