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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: 8-71211245-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=71211245&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 71211245,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001370333.1",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1609T>C",
"hgvs_p": "p.Cys537Arg",
"transcript": "NM_000503.6",
"protein_id": "NP_000494.2",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 592,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 2086,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": "ENST00000340726.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000503.6"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1609T>C",
"hgvs_p": "p.Cys537Arg",
"transcript": "ENST00000340726.8",
"protein_id": "ENSP00000342626.3",
"transcript_support_level": 1,
"aa_start": 537,
"aa_end": null,
"aa_length": 592,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 2086,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": "NM_000503.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340726.8"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1609T>C",
"hgvs_p": "p.Cys537Arg",
"transcript": "ENST00000388742.8",
"protein_id": "ENSP00000373394.4",
"transcript_support_level": 1,
"aa_start": 537,
"aa_end": null,
"aa_length": 592,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 3907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388742.8"
},
{
"aa_ref": "C",
"aa_alt": "R",
"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": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1504T>C",
"hgvs_p": "p.Cys502Arg",
"transcript": "ENST00000419131.6",
"protein_id": "ENSP00000410176.1",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 557,
"cds_start": 1504,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419131.6"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1696T>C",
"hgvs_p": "p.Cys566Arg",
"transcript": "NM_001370333.1",
"protein_id": "NP_001357262.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 621,
"cds_start": 1696,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1999,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370333.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1696T>C",
"hgvs_p": "p.Cys566Arg",
"transcript": "ENST00000643681.1",
"protein_id": "ENSP00000495390.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 621,
"cds_start": 1696,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 2041,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643681.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1609T>C",
"hgvs_p": "p.Cys537Arg",
"transcript": "NM_001370334.1",
"protein_id": "NP_001357263.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 592,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 4109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370334.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1609T>C",
"hgvs_p": "p.Cys537Arg",
"transcript": "NM_001370335.1",
"protein_id": "NP_001357264.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 592,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 4365,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370335.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1609T>C",
"hgvs_p": "p.Cys537Arg",
"transcript": "NM_172058.4",
"protein_id": "NP_742055.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 592,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 3935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172058.4"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1609T>C",
"hgvs_p": "p.Cys537Arg",
"transcript": "ENST00000645793.1",
"protein_id": "ENSP00000496255.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 592,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 2255,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645793.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1609T>C",
"hgvs_p": "p.Cys537Arg",
"transcript": "ENST00000647540.1",
"protein_id": "ENSP00000494438.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 592,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1954,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647540.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1609T>C",
"hgvs_p": "p.Cys537Arg",
"transcript": "ENST00000862515.1",
"protein_id": "ENSP00000532574.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 592,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862515.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1609T>C",
"hgvs_p": "p.Cys537Arg",
"transcript": "ENST00000862516.1",
"protein_id": "ENSP00000532575.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 592,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 2132,
"cdna_end": null,
"cdna_length": 4209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862516.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1606T>C",
"hgvs_p": "p.Cys536Arg",
"transcript": "ENST00000388743.6",
"protein_id": "ENSP00000373395.2",
"transcript_support_level": 5,
"aa_start": 536,
"aa_end": null,
"aa_length": 591,
"cds_start": 1606,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1758,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388743.6"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1606T>C",
"hgvs_p": "p.Cys536Arg",
"transcript": "ENST00000862517.1",
"protein_id": "ENSP00000532576.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 591,
"cds_start": 1606,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 3348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862517.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1606T>C",
"hgvs_p": "p.Cys536Arg",
"transcript": "ENST00000964980.1",
"protein_id": "ENSP00000635039.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 591,
"cds_start": 1606,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964980.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1594T>C",
"hgvs_p": "p.Cys532Arg",
"transcript": "ENST00000862518.1",
"protein_id": "ENSP00000532577.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 587,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 3869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862518.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1594T>C",
"hgvs_p": "p.Cys532Arg",
"transcript": "ENST00000964981.1",
"protein_id": "ENSP00000635040.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 587,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964981.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1591T>C",
"hgvs_p": "p.Cys531Arg",
"transcript": "NM_001288574.2",
"protein_id": "NP_001275503.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 586,
"cds_start": 1591,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288574.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1591T>C",
"hgvs_p": "p.Cys531Arg",
"transcript": "NM_172059.5",
"protein_id": "NP_742056.2",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 586,
"cds_start": 1591,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172059.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1591T>C",
"hgvs_p": "p.Cys531Arg",
"transcript": "ENST00000303824.11",
"protein_id": "ENSP00000303221.7",
"transcript_support_level": 2,
"aa_start": 531,
"aa_end": null,
"aa_length": 586,
"cds_start": 1591,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303824.11"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1591T>C",
"hgvs_p": "p.Cys531Arg",
"transcript": "ENST00000644229.1",
"protein_id": "ENSP00000494568.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 586,
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.51,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Likely_pathogenic",
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{
"score": 6,
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"criteria": [
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"PP3_Strong"
],
"verdict": "Likely_pathogenic",
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"effects": [
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],
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},
{
"score": 6,
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"criteria": [
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"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000647843.1",
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"effects": [
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],
"inheritance_mode": "",
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},
{
"score": 6,
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"PP3_Strong"
],
"verdict": "Likely_pathogenic",
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"effects": [
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],
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}
],
"clinvar_disease": "Melnick-Fraser syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Melnick-Fraser syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}