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
| Field | Type | Description |
|---|---|---|
database | string | Database searched |
query | string | Search query used |
total_results | number | Total matching records in the database |
returned_count | number | Number of records returned (capped by max_results) |
hits | array | Document summaries |
ncbi_url | string | Link to full NCBI search results |
Hit fields (vary by database)
| Field | Databases | Description |
|---|---|---|
uid | All | NCBI unique identifier |
ncbi_url | All | Direct link to the record |
title | All | Record title or description |
organism | gene, protein, nucleotide | Organism name |
accession | protein, nucleotide | Accession number |
gene_symbol | gene | Official gene symbol |
gene_name | gene | Full gene name |
chromosome | gene | Chromosome location |
map_location | gene | Cytogenetic map location |
length | protein | Sequence length |
pdb_id | structure | PDB accession code |
method | structure | Experimental method |
resolution | structure | Structure resolution |
Entrez Link output
| Field | Type | Description |
|---|---|---|
source_db | string | Source database |
target_db | string | Target database |
source_ids | string[] | Input UIDs |
total_linked | number | Total linked records found |
returned_count | number | Records returned (capped by max_results) |
linked_records | array | Linked record summaries |
Linked record fields
| Field | Type | Description |
|---|---|---|
uid | string | Target database UID |
title | string | Record title |
accession | string | Accession number (if applicable) |
organism | string | Organism name (if applicable) |
Entrez Fetch output
| Field | Type | Description |
|---|---|---|
database | string | Database fetched from |
ids | string[] | UIDs retrieved |
format | string | Format string (e.g., "fasta/text") |
record_count | number | Number of records |
content | string | Raw record content (FASTA, GenBank, XML, etc.) |
truncated | boolean | Whether content was truncated (max 50,000 characters) |
content_length | number | Original content length |
FASTA output example
MeSH Lookup output
| Field | Type | Description |
|---|---|---|
term | string | Input term |
found | boolean | Whether an exact match was found |
uid | string | MeSH descriptor UID |
mesh_term | string | Official MeSH term |
scope_note | string | Definition/scope note |
tree_numbers | string[] | Hierarchical classification codes |
entry_terms | string[] | Synonyms and related terms (up to 20) |
entry_terms_count | number | Total number of entry terms |
mesh_url | string | Link to MeSH Browser |
KEGG Pathway Search output
| Field | Type | Description |
|---|---|---|
query | string | Search query |
operation | string | Search type performed |
organism | string | Organism code |
total_found | number | Number of results |
results | array | Search results |
Result fields
| Field | Type | Description |
|---|---|---|
id | string | KEGG entry ID (e.g., path:hsa03440) |
name | string | Entry name/description |
url | string | KEGG entry URL |
diagramUrl | string | Pathway diagram URL (pathway operation only) |
Ensembl Gene Lookup output
| Field | Type | Description |
|---|---|---|
gene | object | Gene information |
gene.id | string | Ensembl gene ID |
gene.displayName | string | Display name (gene symbol) |
gene.description | string | Gene description |
gene.biotype | string | Gene biotype (e.g., protein_coding) |
gene.chromosome | string | Chromosome name |
gene.start | number | Start coordinate (GRCh38) |
gene.end | number | End coordinate (GRCh38) |
gene.strand | number | Strand (1 or -1) |
gene.assembly | string | Assembly name |
gene_length | number | Gene length in base pairs |
transcript_count | number | Number of transcript isoforms (if requested) |
transcripts | array | Transcript details (if include_transcripts: true) |
ensembl_url | string | Link to Ensembl gene page |
ucsc_url | string | Link to UCSC Genome Browser |
Transcript fields
| Field | Type | Description |
|---|---|---|
id | string | Ensembl transcript ID |
displayName | string | Transcript name |
biotype | string | Transcript biotype |
isCanonical | boolean | Whether this is the canonical transcript |
length | number | Transcript length in base pairs |
ClinVar Search output
| Field | Type | Description |
|---|---|---|
query | string | Search query |
total_variants | number | Number of variants returned |
pathogenic_count | number | Variants classified as pathogenic or likely pathogenic |
vus_count | number | Variants of uncertain significance |
variants | array | Variant details |
Variant fields
| Field | Type | Description |
|---|---|---|
variationId | string | ClinVar variation ID |
clinvar_url | string | Link to ClinVar record |
title | string | Variant title (typically HGVS expression) |
clinicalSignificance | string | Classification (pathogenic, likely pathogenic, VUS, etc.) |
reviewStatus | string | Review confidence level |
gene | string | Gene symbol |
condition | string | Associated disease/condition |
rsId | string | dbSNP rsID (if available) |
dbsnp_url | string | Link to dbSNP record (if rsID available) |
Review status interpretation
| Review Status | Stars | Meaning |
|---|---|---|
| Practice guideline | 4 | Professional society guideline |
| Reviewed by expert panel | 3 | Expert consensus |
| Criteria provided, multiple submitters, no conflicts | 2 | Agreement among labs |
| Criteria provided, single submitter | 1 | One lab's interpretation |
| No assertion criteria provided | 0 | No evidence description |
OpenTargets Associations output
| Field | Type | Description |
|---|---|---|
query | string | Input query |
query_type | string | "target" or "disease" |
resolved_id | string | Resolved Ensembl or EFO ID |
total_associations | number | Associations above min_score |
avg_score | number | Average association score |
druggable_count | number | Associations with known drug evidence |
associations | array | Association details |
opentargets_url | string | Link to OpenTargets Platform |
Association fields
| Field | Type | Description |
|---|---|---|
targetId | string | Ensembl gene ID |
targetSymbol | string | Gene symbol |
diseaseId | string | EFO disease ID |
diseaseName | string | Disease name |
overallScore | number | Combined association score (0-1) |
geneticAssociation | number | GWAS and rare disease genetics score |
somaticMutation | number | Cancer somatic mutation score |
knownDrug | number | Approved/clinical drug evidence score |
literature | number | Text mining evidence score |
Score interpretation
| Score Range | Interpretation |
|---|---|
| 0.7 - 1.0 | Strong association, well-validated |
| 0.4 - 0.7 | Moderate association, emerging evidence |
| 0.1 - 0.4 | Weak association, limited evidence |
| < 0.1 | Minimal or no association |
Reactome Pathway output
| Field | Type | Description |
|---|---|---|
query | string | Search query |
species | string | Species name |
total_pathways | number | Number of pathways found |
disease_pathways_count | number | Pathways annotated as disease-related |
pathways | array | Pathway details |
Pathway fields
| Field | Type | Description |
|---|---|---|
stId | string | Reactome stable identifier |
displayName | string | Pathway name |
speciesName | string | Species |
summation | string | Pathway description |
hasEvent | boolean | Whether pathway contains events |
isInDisease | boolean | Disease-related pathway |
diagramUrl | string | Interactive pathway diagram URL |
imageUrl | string | Static pathway diagram image (PNG) |
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