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    Interpreting genomics outputs

    Gene records, pathway results, variant classifications, association scores, and cross-database links.

    genomicsoutputs

    Each tool returns structured records with database URLs — gene coordinates, pathway diagrams, variant classifications, or target-disease association scores. These let you take the next step: a strong OpenTargets association score nominates a target worth pursuing, linked protein and structure records feed sequence homology and structure prediction, and a pathogenic ClinVar classification flags a variant for clinical follow-up.

    Interpreting genomics outputs

    Entrez Search output

    FieldTypeDescription
    databasestringDatabase searched
    querystringSearch query used
    total_resultsnumberTotal matching records in the database
    returned_countnumberNumber of records returned (capped by max_results)
    hitsarrayDocument summaries
    ncbi_urlstringLink to full NCBI search results

    Hit fields (vary by database)

    FieldDatabasesDescription
    uidAllNCBI unique identifier
    ncbi_urlAllDirect link to the record
    titleAllRecord title or description
    organismgene, protein, nucleotideOrganism name
    accessionprotein, nucleotideAccession number
    gene_symbolgeneOfficial gene symbol
    gene_namegeneFull gene name
    chromosomegeneChromosome location
    map_locationgeneCytogenetic map location
    lengthproteinSequence length
    pdb_idstructurePDB accession code
    methodstructureExperimental method
    resolutionstructureStructure resolution
    FieldTypeDescription
    source_dbstringSource database
    target_dbstringTarget database
    source_idsstring[]Input UIDs
    total_linkednumberTotal linked records found
    returned_countnumberRecords returned (capped by max_results)
    linked_recordsarrayLinked record summaries

    Linked record fields

    FieldTypeDescription
    uidstringTarget database UID
    titlestringRecord title
    accessionstringAccession number (if applicable)
    organismstringOrganism name (if applicable)

    Entrez Fetch output

    FieldTypeDescription
    databasestringDatabase fetched from
    idsstring[]UIDs retrieved
    formatstringFormat string (e.g., "fasta/text")
    record_countnumberNumber of records
    contentstringRaw record content (FASTA, GenBank, XML, etc.)
    truncatedbooleanWhether content was truncated (max 50,000 characters)
    content_lengthnumberOriginal content length

    FASTA output example

    >NP_000537.3 cellular tumor antigen p53 [Homo sapiens]
    MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGP
    DEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYPQGLNGTVNLPGRNSFEV
    ...

    MeSH Lookup output

    FieldTypeDescription
    termstringInput term
    foundbooleanWhether an exact match was found
    uidstringMeSH descriptor UID
    mesh_termstringOfficial MeSH term
    scope_notestringDefinition/scope note
    tree_numbersstring[]Hierarchical classification codes
    entry_termsstring[]Synonyms and related terms (up to 20)
    entry_terms_countnumberTotal number of entry terms
    mesh_urlstringLink to MeSH Browser

    KEGG Pathway Search output

    FieldTypeDescription
    querystringSearch query
    operationstringSearch type performed
    organismstringOrganism code
    total_foundnumberNumber of results
    resultsarraySearch results

    Result fields

    FieldTypeDescription
    idstringKEGG entry ID (e.g., path:hsa03440)
    namestringEntry name/description
    urlstringKEGG entry URL
    diagramUrlstringPathway diagram URL (pathway operation only)

    Ensembl Gene Lookup output

    FieldTypeDescription
    geneobjectGene information
    gene.idstringEnsembl gene ID
    gene.displayNamestringDisplay name (gene symbol)
    gene.descriptionstringGene description
    gene.biotypestringGene biotype (e.g., protein_coding)
    gene.chromosomestringChromosome name
    gene.startnumberStart coordinate (GRCh38)
    gene.endnumberEnd coordinate (GRCh38)
    gene.strandnumberStrand (1 or -1)
    gene.assemblystringAssembly name
    gene_lengthnumberGene length in base pairs
    transcript_countnumberNumber of transcript isoforms (if requested)
    transcriptsarrayTranscript details (if include_transcripts: true)
    ensembl_urlstringLink to Ensembl gene page
    ucsc_urlstringLink to UCSC Genome Browser

    Transcript fields

    FieldTypeDescription
    idstringEnsembl transcript ID
    displayNamestringTranscript name
    biotypestringTranscript biotype
    isCanonicalbooleanWhether this is the canonical transcript
    lengthnumberTranscript length in base pairs

    ClinVar Search output

    FieldTypeDescription
    querystringSearch query
    total_variantsnumberNumber of variants returned
    pathogenic_countnumberVariants classified as pathogenic or likely pathogenic
    vus_countnumberVariants of uncertain significance
    variantsarrayVariant details

    Variant fields

    FieldTypeDescription
    variationIdstringClinVar variation ID
    clinvar_urlstringLink to ClinVar record
    titlestringVariant title (typically HGVS expression)
    clinicalSignificancestringClassification (pathogenic, likely pathogenic, VUS, etc.)
    reviewStatusstringReview confidence level
    genestringGene symbol
    conditionstringAssociated disease/condition
    rsIdstringdbSNP rsID (if available)
    dbsnp_urlstringLink to dbSNP record (if rsID available)

    Review status interpretation

    Review StatusStarsMeaning
    Practice guideline4Professional society guideline
    Reviewed by expert panel3Expert consensus
    Criteria provided, multiple submitters, no conflicts2Agreement among labs
    Criteria provided, single submitter1One lab's interpretation
    No assertion criteria provided0No evidence description

    OpenTargets Associations output

    FieldTypeDescription
    querystringInput query
    query_typestring"target" or "disease"
    resolved_idstringResolved Ensembl or EFO ID
    total_associationsnumberAssociations above min_score
    avg_scorenumberAverage association score
    druggable_countnumberAssociations with known drug evidence
    associationsarrayAssociation details
    opentargets_urlstringLink to OpenTargets Platform

    Association fields

    FieldTypeDescription
    targetIdstringEnsembl gene ID
    targetSymbolstringGene symbol
    diseaseIdstringEFO disease ID
    diseaseNamestringDisease name
    overallScorenumberCombined association score (0-1)
    geneticAssociationnumberGWAS and rare disease genetics score
    somaticMutationnumberCancer somatic mutation score
    knownDrugnumberApproved/clinical drug evidence score
    literaturenumberText mining evidence score

    Score interpretation

    Score RangeInterpretation
    0.7 - 1.0Strong association, well-validated
    0.4 - 0.7Moderate association, emerging evidence
    0.1 - 0.4Weak association, limited evidence
    < 0.1Minimal or no association

    Reactome Pathway output

    FieldTypeDescription
    querystringSearch query
    speciesstringSpecies name
    total_pathwaysnumberNumber of pathways found
    disease_pathways_countnumberPathways annotated as disease-related
    pathwaysarrayPathway details

    Pathway fields

    FieldTypeDescription
    stIdstringReactome stable identifier
    displayNamestringPathway name
    speciesNamestringSpecies
    summationstringPathway description
    hasEventbooleanWhether pathway contains events
    isInDiseasebooleanDisease-related pathway
    diagramUrlstringInteractive pathway diagram URL
    imageUrlstringStatic pathway diagram image (PNG)

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