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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: 6-133481470-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=133481470&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 133481470,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000355286.12",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.978C>T",
"hgvs_p": "p.Phe326Phe",
"transcript": "NM_004100.5",
"protein_id": "NP_004091.3",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 639,
"cds_start": 978,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": "ENST00000355286.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.978C>T",
"hgvs_p": "p.Phe326Phe",
"transcript": "ENST00000355286.12",
"protein_id": "ENSP00000347434.7",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 639,
"cds_start": 978,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": "NM_004100.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.996C>T",
"hgvs_p": "p.Phe332Phe",
"transcript": "NM_001301013.2",
"protein_id": "NP_001287942.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 645,
"cds_start": 996,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.996C>T",
"hgvs_p": "p.Phe332Phe",
"transcript": "ENST00000531901.5",
"protein_id": "ENSP00000432770.1",
"transcript_support_level": 2,
"aa_start": 332,
"aa_end": null,
"aa_length": 645,
"cds_start": 996,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.978C>T",
"hgvs_p": "p.Phe326Phe",
"transcript": "NM_172105.4",
"protein_id": "NP_742103.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 639,
"cds_start": 978,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.909C>T",
"hgvs_p": "p.Phe303Phe",
"transcript": "NM_001370458.1",
"protein_id": "NP_001357387.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 616,
"cds_start": 909,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.909C>T",
"hgvs_p": "p.Phe303Phe",
"transcript": "NM_172103.4",
"protein_id": "NP_742101.2",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 616,
"cds_start": 909,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.909C>T",
"hgvs_p": "p.Phe303Phe",
"transcript": "ENST00000431403.3",
"protein_id": "ENSP00000404558.3",
"transcript_support_level": 5,
"aa_start": 303,
"aa_end": null,
"aa_length": 616,
"cds_start": 909,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.909C>T",
"hgvs_p": "p.Phe303Phe",
"transcript": "ENST00000525849.7",
"protein_id": "ENSP00000433219.1",
"transcript_support_level": 5,
"aa_start": 303,
"aa_end": null,
"aa_length": 616,
"cds_start": 909,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.834C>T",
"hgvs_p": "p.Phe278Phe",
"transcript": "NM_001370459.1",
"protein_id": "NP_001357388.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 591,
"cds_start": 834,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 5557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.834C>T",
"hgvs_p": "p.Phe278Phe",
"transcript": "ENST00000355167.8",
"protein_id": "ENSP00000347294.4",
"transcript_support_level": 5,
"aa_start": 278,
"aa_end": null,
"aa_length": 591,
"cds_start": 834,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 5494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.816C>T",
"hgvs_p": "p.Phe272Phe",
"transcript": "NM_001301012.2",
"protein_id": "NP_001287941.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 585,
"cds_start": 816,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.816C>T",
"hgvs_p": "p.Phe272Phe",
"transcript": "ENST00000452339.6",
"protein_id": "ENSP00000395916.2",
"transcript_support_level": 2,
"aa_start": 272,
"aa_end": null,
"aa_length": 585,
"cds_start": 816,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.816C>T",
"hgvs_p": "p.Phe272Phe",
"transcript": "ENST00000706301.1",
"protein_id": "ENSP00000516341.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 585,
"cds_start": 816,
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"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.834C>T",
"hgvs_p": "p.Phe278Phe",
"transcript": "ENST00000430974.6",
"protein_id": "ENSP00000388670.2",
"transcript_support_level": 2,
"aa_start": 278,
"aa_end": null,
"aa_length": 570,
"cds_start": 834,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Phe167Phe",
"transcript": "ENST00000684773.1",
"protein_id": "ENSP00000506812.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 414,
"cds_start": 501,
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"cds_length": 1245,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 1786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.996C>T",
"hgvs_p": "p.Phe332Phe",
"transcript": "XM_017010368.3",
"protein_id": "XP_016865857.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 654,
"cds_start": 996,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 9163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.978C>T",
"hgvs_p": "p.Phe326Phe",
"transcript": "XM_017010369.3",
"protein_id": "XP_016865858.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 648,
"cds_start": 978,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 9171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.996C>T",
"hgvs_p": "p.Phe332Phe",
"transcript": "XM_005266851.6",
"protein_id": "XP_005266908.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 645,
"cds_start": 996,
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"cdna_start": 1454,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.927C>T",
"hgvs_p": "p.Phe309Phe",
"transcript": "XM_047418275.1",
"protein_id": "XP_047274231.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 631,
"cds_start": 927,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1359,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.912C>T",
"hgvs_p": "p.Phe304Phe",
"transcript": "XM_017010371.3",
"protein_id": "XP_016865860.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 626,
"cds_start": 912,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 9105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.909C>T",
"hgvs_p": "p.Phe303Phe",
"transcript": "XM_047418276.1",
"protein_id": "XP_047274232.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 625,
"cds_start": 909,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 9076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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,
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}
],
"clinvar_disease": "Cardiovascular phenotype,Dilated cardiomyopathy 1J",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Dilated cardiomyopathy 1J|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}