Platform Updates VarSome API VarSome Clinical VarSome.com Premium Release

VarSome & VarSome Clinical v.13.8.1

By Carl Smith on August, 7 2025

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Carl Smith

 

Version 13.8.1 of VarSome and VarSome Clinical was released on 7 August 2025.

  • Minor bug fix to correctly activate PVS1 in cases where the donor or acceptor site is disrupted.
  • A new VarSome Clinical API endpoint is now available to retrieve the QC report in JSON format.
  • "predicted_sex" information in the QC report, now loads faster.
  • The "#Sample" card now displays the latest analyses.
  • "Estimated Copy Number" calculation for CNVs has been corrected.
  • Coding coverage report from gene list sub-analyses has been improved.


Version 13.8.0 of VarSome and VarSome Clinical was released on 31 July 2025.

Summary of Key New Features

  • 22 updated databases (full list of databases).
  • The dbNSFP update introduces new in-silico predictors now available in VarSome Premium: gMVP, VARITY, ESM1b, ClinPred, PHACTboost, and MutPred2.

Updated Databases

Database

Old version

New version

gnomAD structural variants

30-June-2021

4.1

AACT

 07-June-2025

 07-July-2025

GWAS

07-June-2025

07-July-2025

CKB

16-June-2025

16-Jule-2025

OMIM®

16-June-2025

16-July-2025

LOVD

16-June-2025

16-July-2025

OncoKB

v4.29

v4.30

ClinVar

07-June-2025

07-July-2025

ClinVar CNVs

ClinGen

 

07-June-2025

 

 

07-July-2025

 

ClinGen CNVs

ClinGen Disease Validity

ClinGen Regions

ClinGen Variants

07-June-2025

07-July-2025

GHR

07-June-2025

07-July-2025

Cancer Gene Census

 v101

 v102

Cosmic

v101

v102

DECIPHER

07-June-2025

07-July-2025

UniProt Regions

07-May-2025

07-July-2025

UniProt Variants

 07-Feb-2025

 07-July-2025

dbNSFP

 5.1

 5.2

dbNSFP genes

5.1

5.2

 

Support

We hope you find these improvements helpful. We would love to hear any feedback and suggestions you may have. Support is available as usual from support@varsome.com.

 

The VarSome Team.

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