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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: 15-49331794-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=49331794&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 49331794,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152647.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1405T>A",
"hgvs_p": "p.Phe469Ile",
"transcript": "NM_152647.3",
"protein_id": "NP_689860.2",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 508,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": "ENST00000299338.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1405T>A",
"hgvs_p": "p.Phe469Ile",
"transcript": "ENST00000299338.11",
"protein_id": "ENSP00000299338.6",
"transcript_support_level": 2,
"aa_start": 469,
"aa_end": null,
"aa_length": 508,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": "NM_152647.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.*3635A>T",
"hgvs_p": null,
"transcript": "NM_002044.4",
"protein_id": "NP_002035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": "ENST00000560031.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.*3635A>T",
"hgvs_p": null,
"transcript": "ENST00000560031.6",
"protein_id": "ENSP00000453129.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": "NM_002044.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.*3635A>T",
"hgvs_p": null,
"transcript": "ENST00000327171.7",
"protein_id": "ENSP00000316632.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1480T>A",
"hgvs_p": "p.Phe494Ile",
"transcript": "XM_005254213.4",
"protein_id": "XP_005254270.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 533,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1480T>A",
"hgvs_p": "p.Phe494Ile",
"transcript": "XM_005254214.4",
"protein_id": "XP_005254271.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 533,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 3391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1480T>A",
"hgvs_p": "p.Phe494Ile",
"transcript": "XM_006720423.4",
"protein_id": "XP_006720486.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 533,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 3448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1480T>A",
"hgvs_p": "p.Phe494Ile",
"transcript": "XM_047432220.1",
"protein_id": "XP_047288176.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 533,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 3918,
"cdna_end": null,
"cdna_length": 5638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1444T>A",
"hgvs_p": "p.Phe482Ile",
"transcript": "XM_005254215.4",
"protein_id": "XP_005254272.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 521,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1378T>A",
"hgvs_p": "p.Phe460Ile",
"transcript": "XM_005254216.4",
"protein_id": "XP_005254273.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 499,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1342T>A",
"hgvs_p": "p.Phe448Ile",
"transcript": "XM_047432221.1",
"protein_id": "XP_047288177.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 487,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1339T>A",
"hgvs_p": "p.Phe447Ile",
"transcript": "XM_006720426.3",
"protein_id": "XP_006720489.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 486,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 3319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1339T>A",
"hgvs_p": "p.Phe447Ile",
"transcript": "XM_047432222.1",
"protein_id": "XP_047288178.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 486,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 3250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1237T>A",
"hgvs_p": "p.Phe413Ile",
"transcript": "XM_017021990.2",
"protein_id": "XP_016877479.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 452,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1231T>A",
"hgvs_p": "p.Phe411Ile",
"transcript": "XM_047432223.1",
"protein_id": "XP_047288179.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 450,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1138T>A",
"hgvs_p": "p.Phe380Ile",
"transcript": "XM_017021994.2",
"protein_id": "XP_016877483.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 419,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 3118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1138T>A",
"hgvs_p": "p.Phe380Ile",
"transcript": "XM_047432224.1",
"protein_id": "XP_047288180.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 419,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 3049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1078T>A",
"hgvs_p": "p.Phe360Ile",
"transcript": "XM_011521320.2",
"protein_id": "XP_011519622.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 399,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1078T>A",
"hgvs_p": "p.Phe360Ile",
"transcript": "XM_017021996.2",
"protein_id": "XP_016877485.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 399,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1042T>A",
"hgvs_p": "p.Phe348Ile",
"transcript": "XM_011521322.2",
"protein_id": "XP_011519624.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 387,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "n.476T>A",
"hgvs_p": null,
"transcript": "ENST00000559573.3",
"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": 2204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "n.141T>A",
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},
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],
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}
],
"gene_symbol": "FAM227B",
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.2549021244049072,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.095,
"revel_prediction": "Benign",
"alphamissense_score": 0.3209,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.918,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152647.3",
"gene_symbol": "FAM227B",
"hgnc_id": 26543,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002044.4",
"gene_symbol": "GALK2",
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],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}