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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: 6-133483033-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=133483033&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 133483033,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000355286.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1109G>A",
"hgvs_p": "p.Arg370His",
"transcript": "NM_004100.5",
"protein_id": "NP_004091.3",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 639,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": "ENST00000355286.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1109G>A",
"hgvs_p": "p.Arg370His",
"transcript": "ENST00000355286.12",
"protein_id": "ENSP00000347434.7",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 639,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": "NM_004100.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1127G>A",
"hgvs_p": "p.Arg376His",
"transcript": "NM_001301013.2",
"protein_id": "NP_001287942.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 645,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1127G>A",
"hgvs_p": "p.Arg376His",
"transcript": "ENST00000531901.5",
"protein_id": "ENSP00000432770.1",
"transcript_support_level": 2,
"aa_start": 376,
"aa_end": null,
"aa_length": 645,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1109G>A",
"hgvs_p": "p.Arg370His",
"transcript": "NM_172105.4",
"protein_id": "NP_742103.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 639,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347His",
"transcript": "NM_001370458.1",
"protein_id": "NP_001357387.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 616,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347His",
"transcript": "NM_172103.4",
"protein_id": "NP_742101.2",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 616,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347His",
"transcript": "ENST00000431403.3",
"protein_id": "ENSP00000404558.3",
"transcript_support_level": 5,
"aa_start": 347,
"aa_end": null,
"aa_length": 616,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347His",
"transcript": "ENST00000525849.7",
"protein_id": "ENSP00000433219.1",
"transcript_support_level": 5,
"aa_start": 347,
"aa_end": null,
"aa_length": 616,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322His",
"transcript": "NM_001370459.1",
"protein_id": "NP_001357388.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 591,
"cds_start": 965,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 5557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322His",
"transcript": "ENST00000355167.8",
"protein_id": "ENSP00000347294.4",
"transcript_support_level": 5,
"aa_start": 322,
"aa_end": null,
"aa_length": 591,
"cds_start": 965,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 5494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "NM_001301012.2",
"protein_id": "NP_001287941.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 585,
"cds_start": 947,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "ENST00000452339.6",
"protein_id": "ENSP00000395916.2",
"transcript_support_level": 2,
"aa_start": 316,
"aa_end": null,
"aa_length": 585,
"cds_start": 947,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "ENST00000706301.1",
"protein_id": "ENSP00000516341.1",
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"aa_start": 316,
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"aa_length": 585,
"cds_start": 947,
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"cdna_start": 1405,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322His",
"transcript": "ENST00000430974.6",
"protein_id": "ENSP00000388670.2",
"transcript_support_level": 2,
"aa_start": 322,
"aa_end": null,
"aa_length": 570,
"cds_start": 965,
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"cdna_start": 1429,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Arg211His",
"transcript": "ENST00000684773.1",
"protein_id": "ENSP00000506812.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 414,
"cds_start": 632,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1173,
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"cdna_length": 1786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1127G>A",
"hgvs_p": "p.Arg376His",
"transcript": "XM_017010368.3",
"protein_id": "XP_016865857.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 654,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 9163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1109G>A",
"hgvs_p": "p.Arg370His",
"transcript": "XM_017010369.3",
"protein_id": "XP_016865858.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
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"cds_start": 1109,
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"cdna_start": 1567,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1127G>A",
"hgvs_p": "p.Arg376His",
"transcript": "XM_005266851.6",
"protein_id": "XP_005266908.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 645,
"cds_start": 1127,
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"cdna_start": 1585,
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"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353His",
"transcript": "XM_047418275.1",
"protein_id": "XP_047274231.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 631,
"cds_start": 1058,
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"cdna_start": 1490,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "XM_017010371.3",
"protein_id": "XP_016865860.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 626,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 9105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347His",
"transcript": "XM_047418276.1",
"protein_id": "XP_047274232.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 625,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1472,
"cdna_end": null,
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"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1109G>A",
"hgvs_p": "p.Arg370His"
}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 10,Cardiovascular phenotype,Dilated cardiomyopathy 1J,EYA4-related disorder,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:3",
"phenotype_combined": "not specified|Autosomal dominant nonsyndromic hearing loss 10|Dilated cardiomyopathy 1J|Cardiovascular phenotype|EYA4-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}