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    GEBRA SaaS - Contract with Consumption pricing model

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    An AI-powered platform for fast and precise genetic variant interpretation in rare diseases.

    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

    Details

    Delivery method

    Deployed on AWS
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    Pricing

    GEBRA SaaS - Contract with Consumption pricing model

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    Pricing is based on the duration and terms of your contract with the vendor, and additional usage. You pay upfront or in installments according to your contract terms with the vendor. This entitles you to a specified quantity of use for the contract duration. Usage-based pricing is in effect for overages or additional usage not covered in the contract. These charges are applied on top of the contract price. If you choose not to renew or replace your contract before the contract end date, access to your entitlements will expire.
    Additional AWS infrastructure costs may apply. Use the AWS Pricing Calculator  to estimate your infrastructure costs.

    1-month contract (4)

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    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

    Vendor refund policy

    No Refund

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    Usage information

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    Delivery details

    Software as a Service (SaaS)

    SaaS delivers cloud-based software applications directly to customers over the internet. You can access these applications through a subscription model. You will pay recurring monthly usage fees through your AWS bill, while AWS handles deployment and infrastructure management, ensuring scalability, reliability, and seamless integration with other AWS services.

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    Support

    Vendor support

    Support E-mail: gebra@3billion.io  Support URL:

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