Variation Representation (VRS)

Used by computers to structure and exchange information about variants

Between any two individuals, the human genome differs by around 0.1% — meaning each individual has millions of sites in their genome that collectively make them unique. The impact of genetic variation on human health and disease is complex and immense; in order to accelerate research and advance patient care, it is vital to unlock the potential of the world’s genetic variation data and exchange it reliably across diagnostic labs, electronic health records (EHRs), research institutions, and knowledge-bases. Developed by the GA4GH Genomic Knowledge Standards (GKS) Work Stream, the Variation Representation Specification (VRS) is a computational “language” that enables consistent communication across these systems.

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  • Enables scalable federated computable exchange of genetic variants
  • Allows interoperable reuse within other specifications due to its modular design
  • Provides a framework for variation in linked data exchange

Target users

Researchers, clinicians, and clinical laboratories

Image summary: Learn how VRS improves interoperability between genomic data systems for the precise and extensible exchange of variant information.

Community resources

Dive deeper into this product!

Maximising the personal, public, research, and clinical value of genomic information will require clinicians, researchers, and testing laboratories to exchange genetic variation data reliably. VRS provides a community-developed specification to enable the precise representation and exchange of genetic variation data. The specification is designed to improve the reliability and utility of the clinical annotations that are central to personalised medicine, and consists of five components:

  • An extensible terminology and information model containing precise computational definitions for biological concepts
  • A machine readable schema to structure genetic variation data for electronic data exchange
  • Conventions for reliable data sharing, allowing researchers to easily compare and interpret information across institutions
  • Algorithms to generate globally unique computed identifiers to refer to a specific genetic variant without prior coordination
  • A python implementation to demonstrate the VRS components in action







This working meeting focused on implementation support aims to create cloud-based services and tools for generating, transforming, and validating content using the GKS specifications.


15:00 UTC
1 Hour

This working meeting focused on implementation support aims to create cloud-based services and tools for generating, transforming, and validating content using the GKS specifications.

Meets on the third Monday of each month.

21:00 UTC
1 Hour





Related Driver Projects and Organisations

BRCA Challenge
Clinical Genome Resource (ClinGen)
Monarch Initiative
Variant Interpretation for Cancer Consortium (VICC)

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  • Larry Babb
    Broad Institute of MIT and Harvard
  • Steven Brenner
    University of California, Berkeley
  • Daniel Cameron
    Walter and Eliza Hall Institute of Medical Research
  • Bimal Chaudhari
    Nationwide Children’s Hospital
  • Melissa Cline
    University of California, Santa Cruz
  • Raymond Dalgleish
    University of Leicester
  • Kyle Ferriter
    Broad Institute of MIT and Harvard
  • Robert Freimuth
    Mayo Clinic
  • Wesley Goar
    Nationwide Children’s Hospital
  • Malachi Griffith
    The Genome Institute at Washington University
  • Melissa Haendel
    University of Colorado Anschutz Medical Campus
  • Reece Hart
  • Seik-Soon Khor
    National Center for Global Health and Medicine
  • Melissa Konopko
  • Kori Kuzma
    Nationwide Children’s Hospital
  • Jennifer Lee
  • Christa Lese Martin
    Geisinger Health System
  • Xuelu (Jeff) Liu
    Dana-Farber Cancer Institute
  • Anna Lu
    NIH National Cancer Institute (NCI)
  • Eric Moyer
    NIH National Center for Biotechnology Information (NCBI)
  • Tristan Nelson
    Geisinger Health System
  • Vivek Nuthalapati
    Epic Systems
  • Andreas Prlić
    Invitae, Inc.
  • Heidi Rehm
    Massachusetts General Hospital, Broad Institute of MIT and Harvard
  • Kevin Riehle
    Baylor College of Medicine
  • Alan Rubin
    Walter and Eliza Hall Institute of Medical Research
  • Anastasia Smith
    Nationwide Children’s Hospital
  • Kathryn Stahl
    Nationwide Children’s Hospital
  • James Stevenson
    Nationwide Children’s Hospital
  • Jing Su
    Wellcome Sanger Institute (WSI)
  • Mrinal Thomas
    Epic Systems
  • Alex Wagner
    The Ohio State University College of Medicine, Nationwide Children’s Hospital
  • Brian Walsh
    Knight Diagnostic Laboratories, Oregon Health & Science University
  • Ziying Yang
    University of Zurich
  • Andy Yates
    EMBL's European Bioinformatics Institute (EBI)
  • Zhenyu Zhang
    University of Chicago
  • Hangjia Zhao
    University of Zurich

News, events, and more

Catch up with all news and articles associated with Variation Representation (VRS).

7 Feb 2023
Representing structural variation: introducing a new VRS Special Interest Group
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29 Jun 2022
VRS tutorials: an introduction to the GA4GH Variation Representation Specification
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10 Jun 2022
OmicsXchange episode 17: exploring the Variation Representation Specification with Larry Babb and Alex Wagner
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