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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: 8-71215712-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=71215712&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 71215712,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000340726.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1377T>C",
"hgvs_p": "p.Ala459Ala",
"transcript": "NM_000503.6",
"protein_id": "NP_000494.2",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 592,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": "ENST00000340726.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1377T>C",
"hgvs_p": "p.Ala459Ala",
"transcript": "ENST00000340726.8",
"protein_id": "ENSP00000342626.3",
"transcript_support_level": 1,
"aa_start": 459,
"aa_end": null,
"aa_length": 592,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": "NM_000503.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1377T>C",
"hgvs_p": "p.Ala459Ala",
"transcript": "ENST00000388742.8",
"protein_id": "ENSP00000373394.4",
"transcript_support_level": 1,
"aa_start": 459,
"aa_end": null,
"aa_length": 592,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 3907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1272T>C",
"hgvs_p": "p.Ala424Ala",
"transcript": "ENST00000419131.6",
"protein_id": "ENSP00000410176.1",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 557,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1464T>C",
"hgvs_p": "p.Ala488Ala",
"transcript": "NM_001370333.1",
"protein_id": "NP_001357262.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 621,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1464T>C",
"hgvs_p": "p.Ala488Ala",
"transcript": "ENST00000643681.1",
"protein_id": "ENSP00000495390.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 621,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1809,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1377T>C",
"hgvs_p": "p.Ala459Ala",
"transcript": "NM_001370334.1",
"protein_id": "NP_001357263.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 592,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 4109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1377T>C",
"hgvs_p": "p.Ala459Ala",
"transcript": "NM_001370335.1",
"protein_id": "NP_001357264.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 592,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 4365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1377T>C",
"hgvs_p": "p.Ala459Ala",
"transcript": "NM_172058.4",
"protein_id": "NP_742055.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 592,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 3935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1377T>C",
"hgvs_p": "p.Ala459Ala",
"transcript": "ENST00000645793.1",
"protein_id": "ENSP00000496255.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 592,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 2023,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1377T>C",
"hgvs_p": "p.Ala459Ala",
"transcript": "ENST00000647540.1",
"protein_id": "ENSP00000494438.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 592,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1374T>C",
"hgvs_p": "p.Ala458Ala",
"transcript": "ENST00000388743.6",
"protein_id": "ENSP00000373395.2",
"transcript_support_level": 5,
"aa_start": 458,
"aa_end": null,
"aa_length": 591,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1359T>C",
"hgvs_p": "p.Ala453Ala",
"transcript": "NM_001288574.2",
"protein_id": "NP_001275503.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 586,
"cds_start": 1359,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1359T>C",
"hgvs_p": "p.Ala453Ala",
"transcript": "NM_172059.5",
"protein_id": "NP_742056.2",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 586,
"cds_start": 1359,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1359T>C",
"hgvs_p": "p.Ala453Ala",
"transcript": "ENST00000303824.11",
"protein_id": "ENSP00000303221.7",
"transcript_support_level": 2,
"aa_start": 453,
"aa_end": null,
"aa_length": 586,
"cds_start": 1359,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1359T>C",
"hgvs_p": "p.Ala453Ala",
"transcript": "ENST00000644229.1",
"protein_id": "ENSP00000494568.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 586,
"cds_start": 1359,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1356T>C",
"hgvs_p": "p.Ala452Ala",
"transcript": "NM_001370336.1",
"protein_id": "NP_001357265.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 585,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1356T>C",
"hgvs_p": "p.Ala452Ala",
"transcript": "ENST00000644712.1",
"protein_id": "ENSP00000496188.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 585,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1278T>C",
"hgvs_p": "p.Ala426Ala",
"transcript": "NM_001411797.1",
"protein_id": "NP_001398726.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 559,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 4035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1278T>C",
"hgvs_p": "p.Ala426Ala",
"transcript": "NM_172060.4",
"protein_id": "NP_742057.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 559,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1278T>C",
"hgvs_p": "p.Ala426Ala",
"transcript": "ENST00000388740.4",
"protein_id": "ENSP00000373392.3",
"transcript_support_level": 5,
"aa_start": 426,
"aa_end": null,
"aa_length": 559,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1275T>C",
"hgvs_p": "p.Ala425Ala",
"transcript": "ENST00000388741.7",
"protein_id": "ENSP00000373393.2",
"transcript_support_level": 5,
"aa_start": 425,
"aa_end": null,
"aa_length": 558,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1011T>C",
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},
{
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],
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}
],
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.165,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000340726.8",
"gene_symbol": "EYA1",
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"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.1377T>C",
"hgvs_p": "p.Ala459Ala"
},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000647843.1",
"gene_symbol": "ENSG00000285579",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1111-1000A>G",
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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
}