VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions

Peter J Freeman, Reece K Hart, Liam J Gretton, Anthony J Brookes, Raymond Dalgleish

Research output: Contribution to journalArticlepeer-review


The Human Genome Variation Society (HGVS) variant nomenclature is widely used to describe sequence variants in scientific publications, clinical reports, and databases. However, the HGVS recommendations are complex and this often results in inaccurate variant descriptions being reported. The open-source hgvs Python package ( provides a programmatic interface for parsing, manipulating, formatting, and validating of variants according to the HGVS recommendations, but does not provide a user-friendly Web interface. We have developed a Web-based variant validation tool, VariantValidator (, which utilizes the hgvs Python package and provides additional functionality to assist users who wish to accurately describe and report sequence-level variations that are compliant with the HGVS recommendations. VariantValidator was designed to ensure that users are guided through the intricacies of the HGVS nomenclature, for example, if the user makes a mistake, VariantValidator automatically corrects the mistake if it can, or provides helpful guidance if it cannot. In addition, VariantValidator has the facility to interconvert genomic variant descriptions in HGVS and Variant Call Format with a degree of accuracy that surpasses most competing solutions.

Original languageEnglish
Pages (from-to)61-68
Number of pages8
JournalHuman Mutation
Issue number1
Early online date17 Oct 2017
Publication statusPublished - Jan 2018


  • Chromosome Mapping/methods
  • Computational Biology/methods
  • Databases, Genetic
  • Exons
  • Genetic Variation
  • Humans
  • Introns
  • Reproducibility of Results
  • Sequence Analysis, DNA/methods
  • Software
  • User-Computer Interface
  • Web Browser


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