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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: 5-71652739-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=71652739&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 71652739,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000340941.11",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1559A>T",
"hgvs_p": "p.Tyr520Phe",
"transcript": "NM_022132.5",
"protein_id": "NP_071415.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 563,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": "ENST00000340941.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1559A>T",
"hgvs_p": "p.Tyr520Phe",
"transcript": "ENST00000340941.11",
"protein_id": "ENSP00000343657.6",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 563,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": "NM_022132.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1688A>T",
"hgvs_p": "p.Tyr563Phe",
"transcript": "ENST00000682876.1",
"protein_id": "ENSP00000508389.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 606,
"cds_start": 1688,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 3763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1550A>T",
"hgvs_p": "p.Tyr517Phe",
"transcript": "ENST00000682727.1",
"protein_id": "ENSP00000507393.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 560,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1469A>T",
"hgvs_p": "p.Tyr490Phe",
"transcript": "ENST00000683403.1",
"protein_id": "ENSP00000507896.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 533,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 3528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1445A>T",
"hgvs_p": "p.Tyr482Phe",
"transcript": "NM_001363147.1",
"protein_id": "NP_001350076.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 525,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 3510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1445A>T",
"hgvs_p": "p.Tyr482Phe",
"transcript": "ENST00000683789.1",
"protein_id": "ENSP00000507012.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 525,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 3574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1415A>T",
"hgvs_p": "p.Tyr472Phe",
"transcript": "ENST00000682045.1",
"protein_id": "ENSP00000507329.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 515,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1343A>T",
"hgvs_p": "p.Tyr448Phe",
"transcript": "ENST00000683339.1",
"protein_id": "ENSP00000507758.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 491,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 3378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1166A>T",
"hgvs_p": "p.Tyr389Phe",
"transcript": "ENST00000682214.1",
"protein_id": "ENSP00000507336.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 432,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1166A>T",
"hgvs_p": "p.Tyr389Phe",
"transcript": "ENST00000683429.1",
"protein_id": "ENSP00000507697.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 432,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1052A>T",
"hgvs_p": "p.Tyr351Phe",
"transcript": "ENST00000681968.1",
"protein_id": "ENSP00000508143.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 394,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.725A>T",
"hgvs_p": "p.Tyr242Phe",
"transcript": "ENST00000684310.1",
"protein_id": "ENSP00000507550.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 285,
"cds_start": 725,
"cds_end": null,
"cds_length": 858,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 1154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.677A>T",
"hgvs_p": "p.Tyr226Phe",
"transcript": "ENST00000684530.1",
"protein_id": "ENSP00000507439.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 269,
"cds_start": 677,
"cds_end": null,
"cds_length": 810,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "n.3167A>T",
"hgvs_p": null,
"transcript": "ENST00000505435.4",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "n.3390A>T",
"hgvs_p": null,
"transcript": "ENST00000505787.8",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "n.*511A>T",
"hgvs_p": null,
"transcript": "ENST00000512218.6",
"protein_id": "ENSP00000423202.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "n.1643A>T",
"hgvs_p": null,
"transcript": "ENST00000681991.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "n.3391A>T",
"hgvs_p": null,
"transcript": "ENST00000682175.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "n.577A>T",
"hgvs_p": null,
"transcript": "ENST00000682231.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "n.3558A>T",
"hgvs_p": null,
"transcript": "ENST00000682438.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "n.2380A>T",
"hgvs_p": null,
"transcript": "ENST00000682499.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "n.*457A>T",
"hgvs_p": null,
"transcript": "ENST00000682541.1",
"protein_id": "ENSP00000507673.1",
"transcript_support_level": null,
"aa_start": null,
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.87,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.0948,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.916,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000340941.11",
"gene_symbol": "MCCC2",
"hgnc_id": 6937,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1559A>T",
"hgvs_p": "p.Tyr520Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}