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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: 6-133464837-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=133464837&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 133464837,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001301013.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Thr261Thr",
"transcript": "NM_004100.5",
"protein_id": "NP_004091.3",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 639,
"cds_start": 783,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": "ENST00000355286.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004100.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Thr261Thr",
"transcript": "ENST00000355286.12",
"protein_id": "ENSP00000347434.7",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 639,
"cds_start": 783,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": "NM_004100.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355286.12"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Thr261Thr",
"transcript": "NM_001301013.2",
"protein_id": "NP_001287942.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 645,
"cds_start": 783,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301013.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Thr261Thr",
"transcript": "ENST00000531901.5",
"protein_id": "ENSP00000432770.1",
"transcript_support_level": 2,
"aa_start": 261,
"aa_end": null,
"aa_length": 645,
"cds_start": 783,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531901.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Thr261Thr",
"transcript": "ENST00000883055.1",
"protein_id": "ENSP00000553114.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 645,
"cds_start": 783,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 5594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883055.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Thr261Thr",
"transcript": "ENST00000943593.1",
"protein_id": "ENSP00000613652.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 644,
"cds_start": 783,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943593.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Thr261Thr",
"transcript": "NM_172105.4",
"protein_id": "NP_742103.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 639,
"cds_start": 783,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172105.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Thr261Thr",
"transcript": "ENST00000883053.1",
"protein_id": "ENSP00000553112.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 639,
"cds_start": 783,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 5703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883053.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Thr261Thr",
"transcript": "ENST00000883058.1",
"protein_id": "ENSP00000553117.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 639,
"cds_start": 783,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883058.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Thr261Thr",
"transcript": "ENST00000883059.1",
"protein_id": "ENSP00000553118.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 639,
"cds_start": 783,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 3062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883059.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Thr261Thr",
"transcript": "ENST00000883063.1",
"protein_id": "ENSP00000553122.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 639,
"cds_start": 783,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 3258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883063.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.714G>A",
"hgvs_p": "p.Thr238Thr",
"transcript": "ENST00000883056.1",
"protein_id": "ENSP00000553115.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 622,
"cds_start": 714,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883056.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.714G>A",
"hgvs_p": "p.Thr238Thr",
"transcript": "ENST00000883057.1",
"protein_id": "ENSP00000553116.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 622,
"cds_start": 714,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 5641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883057.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.714G>A",
"hgvs_p": "p.Thr238Thr",
"transcript": "ENST00000883064.1",
"protein_id": "ENSP00000553123.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 622,
"cds_start": 714,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883064.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.714G>A",
"hgvs_p": "p.Thr238Thr",
"transcript": "NM_001370458.1",
"protein_id": "NP_001357387.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 616,
"cds_start": 714,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370458.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.714G>A",
"hgvs_p": "p.Thr238Thr",
"transcript": "NM_172103.4",
"protein_id": "NP_742101.2",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 616,
"cds_start": 714,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172103.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.714G>A",
"hgvs_p": "p.Thr238Thr",
"transcript": "ENST00000431403.3",
"protein_id": "ENSP00000404558.3",
"transcript_support_level": 5,
"aa_start": 238,
"aa_end": null,
"aa_length": 616,
"cds_start": 714,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431403.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.714G>A",
"hgvs_p": "p.Thr238Thr",
"transcript": "ENST00000525849.7",
"protein_id": "ENSP00000433219.1",
"transcript_support_level": 5,
"aa_start": 238,
"aa_end": null,
"aa_length": 616,
"cds_start": 714,
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"cdna_start": 1172,
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"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525849.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.714G>A",
"hgvs_p": "p.Thr238Thr",
"transcript": "ENST00000883054.1",
"protein_id": "ENSP00000553113.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 616,
"cds_start": 714,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 5729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883054.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.714G>A",
"hgvs_p": "p.Thr238Thr",
"transcript": "ENST00000883062.1",
"protein_id": "ENSP00000553121.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 616,
"cds_start": 714,
"cds_end": null,
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"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 2996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883062.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.699G>A",
"hgvs_p": "p.Thr233Thr",
"transcript": "ENST00000883060.1",
"protein_id": "ENSP00000553119.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 611,
"cds_start": 699,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 2958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883060.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.699G>A",
"hgvs_p": "p.Thr233Thr",
"transcript": "ENST00000883061.1",
"protein_id": "ENSP00000553120.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 611,
"cds_start": 699,
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:5 B:2",
"phenotype_combined": "not specified|Cardiovascular phenotype|Dilated cardiomyopathy 1J|Autosomal dominant nonsyndromic hearing loss 10|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
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}
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}