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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: 8-71271828-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=71271828&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 71271828,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000340726.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.896C>A",
"hgvs_p": "p.Ser299*",
"transcript": "NM_000503.6",
"protein_id": "NP_000494.2",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 592,
"cds_start": 896,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": "ENST00000340726.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.896C>A",
"hgvs_p": "p.Ser299*",
"transcript": "ENST00000340726.8",
"protein_id": "ENSP00000342626.3",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 592,
"cds_start": 896,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": "NM_000503.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.896C>A",
"hgvs_p": "p.Ser299*",
"transcript": "ENST00000388742.8",
"protein_id": "ENSP00000373394.4",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 592,
"cds_start": 896,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 3907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.881C>A",
"hgvs_p": "p.Ser294*",
"transcript": "ENST00000419131.6",
"protein_id": "ENSP00000410176.1",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 557,
"cds_start": 881,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.983C>A",
"hgvs_p": "p.Ser328*",
"transcript": "NM_001370333.1",
"protein_id": "NP_001357262.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 621,
"cds_start": 983,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.983C>A",
"hgvs_p": "p.Ser328*",
"transcript": "ENST00000643681.1",
"protein_id": "ENSP00000495390.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 621,
"cds_start": 983,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.896C>A",
"hgvs_p": "p.Ser299*",
"transcript": "NM_001370334.1",
"protein_id": "NP_001357263.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 592,
"cds_start": 896,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 4109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.896C>A",
"hgvs_p": "p.Ser299*",
"transcript": "NM_001370335.1",
"protein_id": "NP_001357264.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 592,
"cds_start": 896,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 4365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.896C>A",
"hgvs_p": "p.Ser299*",
"transcript": "NM_172058.4",
"protein_id": "NP_742055.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 592,
"cds_start": 896,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 3935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.896C>A",
"hgvs_p": "p.Ser299*",
"transcript": "ENST00000645793.1",
"protein_id": "ENSP00000496255.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 592,
"cds_start": 896,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1542,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.896C>A",
"hgvs_p": "p.Ser299*",
"transcript": "ENST00000647540.1",
"protein_id": "ENSP00000494438.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 592,
"cds_start": 896,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.893C>A",
"hgvs_p": "p.Ser298*",
"transcript": "ENST00000388743.6",
"protein_id": "ENSP00000373395.2",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 591,
"cds_start": 893,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.878C>A",
"hgvs_p": "p.Ser293*",
"transcript": "NM_001288574.2",
"protein_id": "NP_001275503.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 586,
"cds_start": 878,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.968C>A",
"hgvs_p": "p.Ser323*",
"transcript": "NM_172059.5",
"protein_id": "NP_742056.2",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 586,
"cds_start": 968,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.878C>A",
"hgvs_p": "p.Ser293*",
"transcript": "ENST00000303824.11",
"protein_id": "ENSP00000303221.7",
"transcript_support_level": 2,
"aa_start": 293,
"aa_end": null,
"aa_length": 586,
"cds_start": 878,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.968C>A",
"hgvs_p": "p.Ser323*",
"transcript": "ENST00000644229.1",
"protein_id": "ENSP00000494568.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 586,
"cds_start": 968,
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"cdna_start": 1173,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.965C>A",
"hgvs_p": "p.Ser322*",
"transcript": "NM_001370336.1",
"protein_id": "NP_001357265.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 585,
"cds_start": 965,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.965C>A",
"hgvs_p": "p.Ser322*",
"transcript": "ENST00000644712.1",
"protein_id": "ENSP00000496188.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 585,
"cds_start": 965,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.797C>A",
"hgvs_p": "p.Ser266*",
"transcript": "NM_001411797.1",
"protein_id": "NP_001398726.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 559,
"cds_start": 797,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1245,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.797C>A",
"hgvs_p": "p.Ser266*",
"transcript": "NM_172060.4",
"protein_id": "NP_742057.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 559,
"cds_start": 797,
"cds_end": null,
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"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.797C>A",
"hgvs_p": "p.Ser266*",
"transcript": "ENST00000388740.4",
"protein_id": "ENSP00000373392.3",
"transcript_support_level": 5,
"aa_start": 266,
"aa_end": null,
"aa_length": 559,
"cds_start": 797,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.794C>A",
"hgvs_p": "p.Ser265*",
"transcript": "ENST00000388741.7",
"protein_id": "ENSP00000373393.2",
"transcript_support_level": 5,
"aa_start": 265,
"aa_end": null,
"aa_length": 558,
"cds_start": 794,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.530C>A",
"hgvs_p": "p.Ser177*",
"transcript": "NM_001288575.2",
"protein_id": "NP_001275504.1",
"transcript_support_level": null,
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"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000340726.8",
"gene_symbol": "EYA1",
"hgnc_id": 3519,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.896C>A",
"hgvs_p": "p.Ser299*"
}
],
"clinvar_disease": "Rare genetic deafness",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Rare genetic deafness",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}