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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: 17-562675-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=562675&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 562675,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000437048.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Asp462Asn",
"transcript": "NM_001128159.3",
"protein_id": "NP_001121631.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 832,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 13089,
"mane_select": "ENST00000437048.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Asp462Asn",
"transcript": "ENST00000437048.7",
"protein_id": "ENSP00000401435.2",
"transcript_support_level": 1,
"aa_start": 462,
"aa_end": null,
"aa_length": 832,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 13089,
"mane_select": "NM_001128159.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Asp462Asn",
"transcript": "ENST00000571805.6",
"protein_id": "ENSP00000459312.1",
"transcript_support_level": 1,
"aa_start": 462,
"aa_end": null,
"aa_length": 699,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Asp433Asn",
"transcript": "ENST00000291074.10",
"protein_id": "ENSP00000291074.5",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 670,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Asp185Asn",
"transcript": "ENST00000401468.7",
"protein_id": "ENSP00000384294.3",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 422,
"cds_start": 553,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 1269,
"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": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "n.1240G>A",
"hgvs_p": null,
"transcript": "ENST00000389040.9",
"protein_id": "ENSP00000373692.5",
"transcript_support_level": 1,
"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": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Asp412Asn",
"transcript": "ENST00000681510.1",
"protein_id": "ENSP00000505594.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 782,
"cds_start": 1234,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Asp339Asn",
"transcript": "ENST00000681160.1",
"protein_id": "ENSP00000504905.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 709,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 13499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Asp462Asn",
"transcript": "NM_001366253.2",
"protein_id": "NP_001353182.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 699,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Asp462Asn",
"transcript": "ENST00000681317.1",
"protein_id": "ENSP00000505190.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 680,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Asp462Asn",
"transcript": "ENST00000679361.1",
"protein_id": "ENSP00000504978.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 673,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Asp462Asn",
"transcript": "ENST00000680069.1",
"protein_id": "ENSP00000505145.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 672,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Asp433Asn",
"transcript": "NM_018289.4",
"protein_id": "NP_060759.2",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 670,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Asp285Asn",
"transcript": "ENST00000681917.1",
"protein_id": "ENSP00000505944.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 655,
"cds_start": 853,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Asp433Asn",
"transcript": "ENST00000681154.1",
"protein_id": "ENSP00000505866.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 644,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Asp462Asn",
"transcript": "ENST00000681902.1",
"protein_id": "ENSP00000505328.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 643,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Asp394Asn",
"transcript": "ENST00000680128.1",
"protein_id": "ENSP00000506159.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 631,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Asp339Asn",
"transcript": "ENST00000572334.7",
"protein_id": "ENSP00000506188.1",
"transcript_support_level": 5,
"aa_start": 339,
"aa_end": null,
"aa_length": 571,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Asp339Asn",
"transcript": "ENST00000680704.1",
"protein_id": "ENSP00000506453.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 571,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Asp309Asn",
"transcript": "ENST00000681096.1",
"protein_id": "ENSP00000506052.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 546,
"cds_start": 925,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "NM_001366254.2",
"protein_id": "NP_001353183.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 501,
"cds_start": 790,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1612,
"cdna_end": null,
"cdna_length": 3209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Asp304Asn",
"transcript": "ENST00000680114.1",
"protein_id": "ENSP00000505327.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 463,
"cds_start": 910,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 1392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
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}
],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.52,
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{
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],
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],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}