Analyze Genomic Variants in Real-time

Gene.iobio allows investigating potential disease-causing variants in real time to help medical and clinical researchers. Gene.iobio is Powered by state-of-the-art bioinformatics tools.

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Gene.iobio is a web based application that provides genetic variants prioritization and interrogation for research investigation and discovery in real-time using informative and engaging visualizations. It has several features, such an ability to examine variants according to predicted functional impact, and in the context of the pattern of inheritance from the parents. It displays visualization of sequence alignments to assess coverage, and an ability to call potentially missed variants in real time.

gene.iobio is developed by Tonya DiSera in MarthLab at University of Utah.

How to analyze genetic variants?

gene.iobio analyzes the variants in each defined gene, assessing functional impact and predicted protein impact (VEP), clinical significance (ClinVar), allele frequency (gnomAD), and inheritance mode, not only for the canonical transcript, but for all catalogued transcripts of each gene. These analyses are performed in real-time, returning a list of candidate variants in a matter of minutes. The intuitive visualizations coupled with real-time, iterative analysis places in-depth, nuanced variant interrogation directly in the hands of the clinician.

Identifying causative variants in genetic diseases relies on the expertise of clinicians and diagnostic analysts who possess detailed knowledge of disease presentation, clinical phenotype, and family history. However, current state-ofthe- art bioinformatics tools are complex UNIX command line tools that often need to be run on large compute clusters and produce text-based output files with complex formats. To address these challenges we have developed gene.iobio. Gene.iobio helps to prioritize and interrogate diagnostic variants in real-time. Advanced, ad hoc filtering can be performed on any variant annotation and the gene list can be dynamically expanded to a larger search space.

Gene.iobio workflow

Features of gene.iobio

  • Examine the alignments for a variant in the pileup view
  • Examine the gene in detail. Change the transcript and annotations across the variants are reassessed
  • Change the transcript and annotations across the variants are reassessed
  • Examine all variants across the gene. This is especially useful for compound hets and pinpointing data quality issues
  • Display the ClinVar track to examine your variant in the context of nearby pathogenic variants
  • Customize the filters and the filtered variants are instantly reassessed
  • Click on the 'Insufficient Coverage' filter, set the coverage thresholds. Now examine the pinpointed genes in detail
  • Look for missed variants by calling variants in real-time

  • Learn about gene.iobio

  • Multi gene analysis using gene.iobio :
  • Assessing insufficient coverage in genes:
  • How to save variants in gene.iobio:
  • generate gene list using genepanel.iobio