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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: 10-87053401-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=87053401&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 87053401,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005271.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Ala500Thr",
"transcript": "NM_005271.5",
"protein_id": "NP_005262.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 558,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000277865.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005271.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"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": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Ala500Thr",
"transcript": "ENST00000277865.5",
"protein_id": "ENSP00000277865.4",
"transcript_support_level": 1,
"aa_start": 500,
"aa_end": null,
"aa_length": 558,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005271.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000277865.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.1546G>A",
"hgvs_p": "p.Ala516Thr",
"transcript": "ENST00000915201.1",
"protein_id": "ENSP00000585260.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 574,
"cds_start": 1546,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915201.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Ala513Thr",
"transcript": "ENST00000898383.1",
"protein_id": "ENSP00000568442.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 571,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898383.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Ala491Thr",
"transcript": "ENST00000944406.1",
"protein_id": "ENSP00000614465.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 549,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944406.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.1468G>A",
"hgvs_p": "p.Ala490Thr",
"transcript": "ENST00000898388.1",
"protein_id": "ENSP00000568447.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 548,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898388.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Ala500Thr",
"transcript": "ENST00000684338.1",
"protein_id": "ENSP00000507457.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 532,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684338.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.1417G>A",
"hgvs_p": "p.Ala473Thr",
"transcript": "ENST00000898387.1",
"protein_id": "ENSP00000568446.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 531,
"cds_start": 1417,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898387.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.1378G>A",
"hgvs_p": "p.Ala460Thr",
"transcript": "ENST00000915200.1",
"protein_id": "ENSP00000585259.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 518,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915200.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Ala454Thr",
"transcript": "ENST00000898385.1",
"protein_id": "ENSP00000568444.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 512,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898385.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Ala454Thr",
"transcript": "ENST00000915199.1",
"protein_id": "ENSP00000585258.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 512,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915199.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.1318G>A",
"hgvs_p": "p.Ala440Thr",
"transcript": "ENST00000898386.1",
"protein_id": "ENSP00000568445.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 498,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898386.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Ala433Thr",
"transcript": "ENST00000898384.1",
"protein_id": "ENSP00000568443.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 491,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898384.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Ala430Thr",
"transcript": "ENST00000898390.1",
"protein_id": "ENSP00000568449.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 488,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898390.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Ala408Thr",
"transcript": "ENST00000684201.1",
"protein_id": "ENSP00000507887.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 466,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684201.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.1099G>A",
"hgvs_p": "p.Ala367Thr",
"transcript": "NM_001318900.1",
"protein_id": "NP_001305829.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 425,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318900.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Ala341Thr",
"transcript": "ENST00000898392.1",
"protein_id": "ENSP00000568451.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 399,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898392.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Ala333Thr",
"transcript": "NM_001318901.1",
"protein_id": "NP_001305830.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 391,
"cds_start": 997,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318901.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Ala333Thr",
"transcript": "NM_001318902.1",
"protein_id": "NP_001305831.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 391,
"cds_start": 997,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318902.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Ala333Thr",
"transcript": "NM_001318904.2",
"protein_id": "NP_001305833.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 391,
"cds_start": 997,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318904.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Ala333Thr",
"transcript": "NM_001318905.2",
"protein_id": "NP_001305834.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 391,
"cds_start": 997,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318905.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Ala333Thr",
"transcript": "NM_001318906.2",
"protein_id": "NP_001305835.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 391,
"cds_start": 997,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318906.2"
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],
"gene_symbol": "GLUD1",
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"dbsnp": "rs797045597",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.9478748440742493,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.864,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9861,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.49,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
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"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005271.5",
"gene_symbol": "GLUD1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Ala500Thr"
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],
"clinvar_disease": "Hyperinsulinism-hyperammonemia syndrome,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Hyperinsulinism-hyperammonemia syndrome|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}