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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: 6-133468590-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=133468590&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 133468590,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000355286.12",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.829G>C",
"hgvs_p": "p.Gly277Arg",
"transcript": "NM_004100.5",
"protein_id": "NP_004091.3",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 639,
"cds_start": 829,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": "ENST00000355286.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.829G>C",
"hgvs_p": "p.Gly277Arg",
"transcript": "ENST00000355286.12",
"protein_id": "ENSP00000347434.7",
"transcript_support_level": 1,
"aa_start": 277,
"aa_end": null,
"aa_length": 639,
"cds_start": 829,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": "NM_004100.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.829G>C",
"hgvs_p": "p.Gly277Arg",
"transcript": "NM_001301013.2",
"protein_id": "NP_001287942.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 645,
"cds_start": 829,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.829G>C",
"hgvs_p": "p.Gly277Arg",
"transcript": "ENST00000531901.5",
"protein_id": "ENSP00000432770.1",
"transcript_support_level": 2,
"aa_start": 277,
"aa_end": null,
"aa_length": 645,
"cds_start": 829,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.829G>C",
"hgvs_p": "p.Gly277Arg",
"transcript": "NM_172105.4",
"protein_id": "NP_742103.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 639,
"cds_start": 829,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"transcript": "NM_001370458.1",
"protein_id": "NP_001357387.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 616,
"cds_start": 760,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"transcript": "NM_172103.4",
"protein_id": "NP_742101.2",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 616,
"cds_start": 760,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"transcript": "ENST00000431403.3",
"protein_id": "ENSP00000404558.3",
"transcript_support_level": 5,
"aa_start": 254,
"aa_end": null,
"aa_length": 616,
"cds_start": 760,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"transcript": "ENST00000525849.7",
"protein_id": "ENSP00000433219.1",
"transcript_support_level": 5,
"aa_start": 254,
"aa_end": null,
"aa_length": 616,
"cds_start": 760,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Gly223Arg",
"transcript": "NM_001370459.1",
"protein_id": "NP_001357388.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 591,
"cds_start": 667,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 5557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Gly223Arg",
"transcript": "ENST00000355167.8",
"protein_id": "ENSP00000347294.4",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 591,
"cds_start": 667,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1105,
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"cdna_length": 5494,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Gly223Arg",
"transcript": "NM_001301012.2",
"protein_id": "NP_001287941.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 585,
"cds_start": 667,
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"cdna_start": 1125,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Gly223Arg",
"transcript": "ENST00000452339.6",
"protein_id": "ENSP00000395916.2",
"transcript_support_level": 2,
"aa_start": 223,
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"aa_length": 585,
"cds_start": 667,
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"cdna_start": 1223,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 9,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Gly223Arg",
"transcript": "ENST00000706301.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Gly223Arg",
"transcript": "ENST00000430974.6",
"protein_id": "ENSP00000388670.2",
"transcript_support_level": 2,
"aa_start": 223,
"aa_end": null,
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"cds_start": 667,
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"cdna_start": 1131,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.352G>C",
"hgvs_p": "p.Gly118Arg",
"transcript": "ENST00000684773.1",
"protein_id": "ENSP00000506812.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.829G>C",
"hgvs_p": "p.Gly277Arg",
"transcript": "XM_017010368.3",
"protein_id": "XP_016865857.1",
"transcript_support_level": null,
"aa_start": 277,
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"aa_length": 654,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.829G>C",
"hgvs_p": "p.Gly277Arg",
"transcript": "XM_017010369.3",
"protein_id": "XP_016865858.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 648,
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"cdna_start": 1287,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 11,
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.829G>C",
"hgvs_p": "p.Gly277Arg",
"transcript": "XM_005266851.6",
"protein_id": "XP_005266908.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 11,
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"intron_rank": null,
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"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"transcript": "XM_047418275.1",
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},
{
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"strand": true,
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],
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"intron_rank": null,
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"gene_symbol": "EYA4",
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"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"transcript": "XM_017010371.3",
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"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.760G>C",
"hgvs_p": "p.Gly254Arg",
"transcript": "XM_047418276.1",
"protein_id": "XP_047274232.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 625,
"cds_start": 760,
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"cdna_start": 1192,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.829G>C",
"hgvs_p": "p.Gly277Arg",
"transcript": "XM_047418277.1",
"protein_id": "XP_047274233.1",
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"acmg_criteria": "PM2,PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 4,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000355286.12",
"gene_symbol": "EYA4",
"hgnc_id": 3522,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.829G>C",
"hgvs_p": "p.Gly277Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}