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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: 8-32764112-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=32764112&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NRG1",
"hgnc_id": 7997,
"hgvs_c": "c.1813C>T",
"hgvs_p": "p.Arg605Trp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_001322205.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_score": -14,
"allele_count_reference_population": 29547,
"alphamissense_prediction": null,
"alphamissense_score": 0.3118,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"chr": "8",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.009543269872665405,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11983,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1633,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_013964.5",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.1633C>T",
"hgvs_p": "p.Arg545Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000405005.8",
"protein_coding": true,
"protein_id": "NP_039258.1",
"strand": true,
"transcript": "NM_013964.5",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11983,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1633,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000405005.8",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.1633C>T",
"hgvs_p": "p.Arg545Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013964.5",
"protein_coding": true,
"protein_id": "ENSP00000384620.2",
"strand": true,
"transcript": "ENST00000405005.8",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 645,
"aa_ref": "R",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2035,
"cdna_start": 1740,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1648,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000287842.7",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.1648C>T",
"hgvs_p": "p.Arg550Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000287842.4",
"strand": true,
"transcript": "ENST00000287842.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 637,
"aa_ref": "R",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5931,
"cdna_start": 2084,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1624,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000356819.7",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.Arg542Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349275.6",
"strand": true,
"transcript": "ENST00000356819.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 713,
"aa_ref": "R",
"aa_start": 618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2516,
"cdna_start": 1852,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1852,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000523534.5",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.1852C>T",
"hgvs_p": "p.Arg618Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429067.1",
"strand": true,
"transcript": "ENST00000523534.5",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 700,
"aa_ref": "R",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12376,
"cdna_start": 2442,
"cds_end": null,
"cds_length": 2103,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001322205.2",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.1813C>T",
"hgvs_p": "p.Arg605Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309134.1",
"strand": true,
"transcript": "NM_001322205.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 700,
"aa_ref": "R",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6346,
"cdna_start": 2564,
"cds_end": null,
"cds_length": 2103,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000652592.1",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.1813C>T",
"hgvs_p": "p.Arg605Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498646.1",
"strand": true,
"transcript": "ENST00000652592.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 645,
"aa_ref": "R",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11998,
"cdna_start": 2064,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1648,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_013956.5",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.1648C>T",
"hgvs_p": "p.Arg550Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_039250.2",
"strand": true,
"transcript": "NM_013956.5",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 637,
"aa_ref": "R",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11974,
"cdna_start": 2040,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1624,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_013957.5",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.Arg542Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_039251.2",
"strand": true,
"transcript": "NM_013957.5",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 624,
"aa_ref": "R",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11669,
"cdna_start": 1735,
"cds_end": null,
"cds_length": 1875,
"cds_start": 1585,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001159999.3",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.1585C>T",
"hgvs_p": "p.Arg529Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153471.1",
"strand": true,
"transcript": "NM_001159999.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 624,
"aa_ref": "R",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1966,
"cdna_start": 1676,
"cds_end": null,
"cds_length": 1875,
"cds_start": 1585,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000650866.1",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.1585C>T",
"hgvs_p": "p.Arg529Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499045.1",
"strand": true,
"transcript": "ENST00000650866.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 607,
"aa_ref": "R",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11618,
"cdna_start": 1684,
"cds_end": null,
"cds_length": 1824,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001159995.3",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.1534C>T",
"hgvs_p": "p.Arg512Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153467.1",
"strand": true,
"transcript": "NM_001159995.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 607,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11618,
"cdna_start": 1684,
"cds_end": null,
"cds_length": 1824,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000652698.1",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.1534C>T",
"hgvs_p": "p.Arg512Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499008.1",
"strand": true,
"transcript": "ENST00000652698.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5871,
"cdna_start": 2021,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000943676.1",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613735.1",
"strand": true,
"transcript": "ENST00000943676.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 590,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11567,
"cdna_start": 1633,
"cds_end": null,
"cds_length": 1773,
"cds_start": 1483,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001160001.3",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.1483C>T",
"hgvs_p": "p.Arg495Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153473.1",
"strand": true,
"transcript": "NM_001160001.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 590,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 1656,
"cds_end": null,
"cds_length": 1773,
"cds_start": 1483,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000519301.6",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.1483C>T",
"hgvs_p": "p.Arg495Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429582.1",
"strand": true,
"transcript": "ENST00000519301.6",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11264,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1162,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001322197.2",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.1162C>T",
"hgvs_p": "p.Arg388Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309126.1",
"strand": true,
"transcript": "NM_001322197.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 382,
"aa_ref": "R",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11535,
"cdna_start": 1601,
"cds_end": null,
"cds_length": 1149,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001322201.2",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.859C>T",
"hgvs_p": "p.Arg287Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309130.1",
"strand": true,
"transcript": "NM_001322201.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 382,
"aa_ref": "R",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11484,
"cdna_start": 1550,
"cds_end": null,
"cds_length": 1149,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001322202.2",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.859C>T",
"hgvs_p": "p.Arg287Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309131.1",
"strand": true,
"transcript": "NM_001322202.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 860,
"aa_ref": "R",
"aa_start": 765,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12667,
"cdna_start": 2733,
"cds_end": null,
"cds_length": 2583,
"cds_start": 2293,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011544512.3",
"gene_hgnc_id": 7997,
"gene_symbol": "NRG1",
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.Arg765Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542814.2",
"strand": true,
"transcript": "XM_011544512.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12565,
"cdna_start": 2631,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2191,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017013367.2",
"gene_hgnc_id": 7997,
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