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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 15-88081390-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=88081390&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 88081390,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000629765.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1396+44881G>T",
"hgvs_p": null,
"transcript": "NM_001012338.3",
"protein_id": "NP_001012338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": -4,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 20018,
"mane_select": "ENST00000629765.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1396+44881G>T",
"hgvs_p": null,
"transcript": "ENST00000629765.3",
"protein_id": "ENSP00000485864.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": -4,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 20018,
"mane_select": "NM_001012338.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1372+44881G>T",
"hgvs_p": null,
"transcript": "ENST00000557856.5",
"protein_id": "ENSP00000453959.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 817,
"cds_start": -4,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1372+44881G>T",
"hgvs_p": null,
"transcript": "ENST00000558676.5",
"protein_id": "ENSP00000453511.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 705,
"cds_start": -4,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1396+44881G>T",
"hgvs_p": null,
"transcript": "ENST00000317501.9",
"protein_id": "ENSP00000318328.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 612,
"cds_start": -4,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1396+44881G>T",
"hgvs_p": null,
"transcript": "ENST00000626019.2",
"protein_id": "ENSP00000486784.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": -4,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
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"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1396+44881G>T",
"hgvs_p": null,
"transcript": "NM_001375810.1",
"protein_id": "NP_001362739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": -4,
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"cds_length": 2520,
"cdna_start": null,
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"cdna_length": 19730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1396+44881G>T",
"hgvs_p": null,
"transcript": "ENST00000695462.1",
"protein_id": "ENSP00000511942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": -4,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1372+44881G>T",
"hgvs_p": null,
"transcript": "ENST00000357724.6",
"protein_id": "ENSP00000350356.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 831,
"cds_start": -4,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
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"cdna_length": 2980,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1396+44881G>T",
"hgvs_p": null,
"transcript": "NM_001375811.1",
"protein_id": "NP_001362740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
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"hgvs_c": "c.1396+44881G>T",
"hgvs_p": null,
"transcript": "NM_002530.4",
"protein_id": "NP_002521.2",
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},
{
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"consequences": [
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],
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"gene_symbol": "NTRK3",
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"hgvs_c": "c.1396+44881G>T",
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"transcript": "ENST00000394480.6",
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},
{
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],
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"exon_count": 18,
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"gene_symbol": "NTRK3",
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"hgvs_c": "c.1372+44881G>T",
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"transcript": "NM_001243101.2",
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},
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],
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"gene_symbol": "NTRK3",
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"hgvs_c": "c.1372+44881G>T",
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},
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],
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"transcript": "NM_001320135.2",
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},
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],
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"gene_symbol": "NTRK3",
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],
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},
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],
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"gene_symbol": "NTRK3",
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"hgvs_c": "c.1396+44881G>T",
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"transcript": "NM_001375813.1",
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],
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"gene_symbol": "NTRK3",
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"hgvs_c": "c.1372+44881G>T",
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},
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],
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},
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],
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"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.209-8791G>T",
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"transcript": "ENST00000560017.1",
"protein_id": "ENSP00000473475.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "n.92-8483G>T",
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"transcript": "ENST00000557897.1",
"protein_id": null,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000629765.3",
"gene_symbol": "NTRK3",
"hgnc_id": 8033,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1396+44881G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}