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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: 17-82433808-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82433808&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82433808,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000327949.15",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "c.433A>C",
"hgvs_p": "p.Ile145Leu",
"transcript": "NM_001330542.2",
"protein_id": "NP_001317471.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 486,
"cds_start": 433,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2167,
"mane_select": "ENST00000327949.15",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "c.433A>C",
"hgvs_p": "p.Ile145Leu",
"transcript": "ENST00000327949.15",
"protein_id": "ENSP00000332634.9",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 486,
"cds_start": 433,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2167,
"mane_select": "NM_001330542.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "c.433A>C",
"hgvs_p": "p.Ile145Leu",
"transcript": "ENST00000337014.10",
"protein_id": "ENSP00000337854.6",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 585,
"cds_start": 433,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "c.433A>C",
"hgvs_p": "p.Ile145Leu",
"transcript": "NM_173620.3",
"protein_id": "NP_775891.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 585,
"cds_start": 433,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "c.433A>C",
"hgvs_p": "p.Ile145Leu",
"transcript": "ENST00000577944.5",
"protein_id": "ENSP00000463129.1",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 544,
"cds_start": 433,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "c.433A>C",
"hgvs_p": "p.Ile145Leu",
"transcript": "ENST00000644009.1",
"protein_id": "ENSP00000496193.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 486,
"cds_start": 433,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 1461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Ile53Leu",
"transcript": "NM_001369487.1",
"protein_id": "NP_001356416.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 418,
"cds_start": 157,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 2337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Ile53Leu",
"transcript": "NM_001369488.1",
"protein_id": "NP_001356417.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 394,
"cds_start": 157,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Ile53Leu",
"transcript": "ENST00000580235.5",
"protein_id": "ENSP00000462856.1",
"transcript_support_level": 3,
"aa_start": 53,
"aa_end": null,
"aa_length": 116,
"cds_start": 157,
"cds_end": null,
"cds_length": 353,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "c.433A>C",
"hgvs_p": "p.Ile145Leu",
"transcript": "XM_017024484.2",
"protein_id": "XP_016879973.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 574,
"cds_start": 433,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "c.325A>C",
"hgvs_p": "p.Ile109Leu",
"transcript": "XM_011523560.3",
"protein_id": "XP_011521862.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 549,
"cds_start": 325,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Ile98Leu",
"transcript": "XM_006722280.3",
"protein_id": "XP_006722343.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 538,
"cds_start": 292,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 1790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "c.433A>C",
"hgvs_p": "p.Ile145Leu",
"transcript": "XM_047435788.1",
"protein_id": "XP_047291744.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 510,
"cds_start": 433,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Ile53Leu",
"transcript": "XM_047435784.1",
"protein_id": "XP_047291740.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 493,
"cds_start": 157,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Ile53Leu",
"transcript": "XM_047435785.1",
"protein_id": "XP_047291741.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 493,
"cds_start": 157,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "c.433A>C",
"hgvs_p": "p.Ile145Leu",
"transcript": "XM_047435786.1",
"protein_id": "XP_047291742.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 338,
"cds_start": 433,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2010,
"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": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "n.*183A>C",
"hgvs_p": null,
"transcript": "ENST00000578775.2",
"protein_id": "ENSP00000462303.3",
"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": 1969,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "n.*267A>C",
"hgvs_p": null,
"transcript": "ENST00000581482.5",
"protein_id": "ENSP00000464497.1",
"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": 553,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "n.*277A>C",
"hgvs_p": null,
"transcript": "ENST00000582315.5",
"protein_id": "ENSP00000462923.1",
"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": 873,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "n.9A>C",
"hgvs_p": null,
"transcript": "ENST00000582429.6",
"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": 1824,
"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": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "n.564A>C",
"hgvs_p": null,
"transcript": "ENST00000644886.1",
"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": 2235,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "n.878A>C",
"hgvs_p": null,
"transcript": "XR_007065292.1",
"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": 2386,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXD",
"gene_hgnc_id": 26307,
"hgvs_c": "n.878A>C",
"hgvs_p": null,
"transcript": "XR_007065293.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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],
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
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"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
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{
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}