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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: 11-19731153-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=19731153&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NAV2",
"hgnc_id": 15997,
"hgvs_c": "c.267+17191T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001244963.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 91782,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.95,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.949999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2429,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11492,
"cdna_start": null,
"cds_end": null,
"cds_length": 7290,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_145117.5",
"gene_hgnc_id": 15997,
"gene_symbol": "NAV2",
"hgvs_c": "c.267+17191T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000349880.9",
"protein_coding": true,
"protein_id": "NP_660093.2",
"strand": true,
"transcript": "NM_145117.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2429,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11492,
"cdna_start": null,
"cds_end": null,
"cds_length": 7290,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000349880.9",
"gene_hgnc_id": 15997,
"gene_symbol": "NAV2",
"hgvs_c": "c.267+17191T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145117.5",
"protein_coding": true,
"protein_id": "ENSP00000309577.6",
"strand": true,
"transcript": "ENST00000349880.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2365,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10667,
"cdna_start": null,
"cds_end": null,
"cds_length": 7098,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000360655.8",
"gene_hgnc_id": 15997,
"gene_symbol": "NAV2",
"hgvs_c": "c.76-101331T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353871.4",
"strand": true,
"transcript": "ENST00000360655.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2488,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11669,
"cdna_start": null,
"cds_end": null,
"cds_length": 7467,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001244963.2",
"gene_hgnc_id": 15997,
"gene_symbol": "NAV2",
"hgvs_c": "c.267+17191T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001231892.1",
"strand": true,
"transcript": "NM_001244963.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2488,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7882,
"cdna_start": null,
"cds_end": null,
"cds_length": 7467,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396087.7",
"gene_hgnc_id": 15997,
"gene_symbol": "NAV2",
"hgvs_c": "c.267+17191T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379396.3",
"strand": true,
"transcript": "ENST00000396087.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": 2432,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11501,
"cdna_start": null,
"cds_end": null,
"cds_length": 7299,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_182964.6",
"gene_hgnc_id": 15997,
"gene_symbol": "NAV2",
"hgvs_c": "c.267+17191T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_892009.3",
"strand": true,
"transcript": "NM_182964.6",
"transcript_support_level": null
},
{
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"aa_length": 2432,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11501,
"cdna_start": null,
"cds_end": null,
"cds_length": 7299,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396085.6",
"gene_hgnc_id": 15997,
"gene_symbol": "NAV2",
"hgvs_c": "c.267+17191T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379394.1",
"strand": true,
"transcript": "ENST00000396085.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2365,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11097,
"cdna_start": null,
"cds_end": null,
"cds_length": 7098,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001111018.2",
"gene_hgnc_id": 15997,
"gene_symbol": "NAV2",
"hgvs_c": "c.76-101331T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001104488.1",
"strand": true,
"transcript": "NM_001111018.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 11660,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011520444.4",
"gene_hgnc_id": 15997,
"gene_symbol": "NAV2",
"hgvs_c": "c.267+17191T>G",
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"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518746.1",
"strand": true,
"transcript": "XM_011520444.4",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "XM_011520445.4",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011518747.1",
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},
{
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],
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"feature": "XM_006718364.5",
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"protein_coding": true,
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},
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},
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],
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"feature": "XM_006718365.5",
"gene_hgnc_id": 15997,
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},
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],
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"feature": "XM_011520446.4",
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},
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],
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"feature": "XM_011520447.4",
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"protein_id": "XP_011518749.1",
"strand": true,
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},
{
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],
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"feature": "XM_047427811.1",
"gene_hgnc_id": 15997,
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"hgvs_c": "c.267+17191T>G",
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},
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],
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},
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],
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"feature": "XM_047427812.1",
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},
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],
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"feature": "XM_047427813.1",
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"protein_coding": true,
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},
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"consequences": [
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],
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"feature": "XM_047427814.1",
"gene_hgnc_id": 15997,
"gene_symbol": "NAV2",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047283770.1",
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},
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