Overview
GEBRA™ is a cloud-based rare disease variant interpretation software designed to help clinical laboratories, hospitals, and genomics teams analyze and review WES/WGS cases more efficiently.
Built by 3billion, a rare disease genetic testing company, GEBRA supports tertiary analysis workflows from genomic data input to candidate variant review. The platform is designed for teams that need to interpret rare disease cases using VCF or FASTQ files while improving review speed, consistency, and diagnostic workflow efficiency.
GEBRA enables users to upload genomic data, review prioritized candidate variants, compare phenotype relevance, evaluate inheritance models, and assess variant-level evidence in a structured interface. The software supports rare disease-focused analysis workflows including SNV/indel review, CNV review, phenotype matching, inheritance-based filtering, ACMG evidence review, and candidate variant prioritization.
For laboratories handling unresolved or previously negative WES/WGS cases, GEBRA can also support reanalysis workflows using existing genomic data. By combining rare disease-optimized prioritization algorithms with a clinical review interface, GEBRA helps teams identify candidate variants that may require further evaluation.
Key capabilities include:
- WES/WGS data analysis support
- FASTQ and VCF input workflows
- Rare disease-focused variant prioritization
- HPO phenotype matching
- Inheritance model-based review
- ACMG evidence review support
- SNV/indel, CNV, and other variant review workflows
- Candidate gene and variant comparison
- Case-level review interface
- Reanalysis of unresolved cases
- Cloud-based access for distributed clinical and laboratory teams
GEBRA is designed for genetic laboratories, clinical genomics teams, hospitals, academic medical centers, and rare disease programs that need a scalable software solution for genomic interpretation. The platform helps reduce manual review burden, organize variant evidence, and support more efficient collaboration between bioinformatics teams, laboratory directors, and clinical reviewers.
GEBRA can be used as a standalone interpretation platform or as part of a broader rare disease genomic testing workflow. It is especially useful for teams that already generate sequencing data in-house or through external providers and need a reliable software environment for tertiary analysis and case review.
3billion has extensive experience in rare disease genomic analysis and has supported patients and clinical partners across multiple countries. GEBRA reflects this experience by focusing specifically on rare disease interpretation rather than general-purpose variant annotation alone.
GEBRA is intended to support professional genomic interpretation workflows. Final clinical decisions, diagnosis, and reporting should be made by qualified healthcare professionals according to applicable institutional, clinical, and regulatory requirements.
Highlights
- 3ASC - Deep learning model that prioritizes disease-causing variants using up to 41 genomic features, including patient symptoms, inheritance patterns, allele frequencies, and ACMG criteria. It achieves a 97% top-5 recall rate.
- Knowledge Base - Interpretations That Persist, Diagnoses That Compound
- Symptom-driven Update : When Phenotypes Evolve, Your Shortlist Should Too
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Pricing
Dimension | Cost/month | Overage cost |
|---|---|---|
wes_vcf_analysis | $3,000.00 | |
wgs_vcf_analysis | $6,000.00 | |
wes_fastq_analysis | $5,000.00 | |
wgs_fastq_analysis | $8,000.00 |
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Support E-mail: gebra@3billion.io Support URL:
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