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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: 1-27993504-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=27993504&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 27993504,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001990.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Gly400Asp",
"transcript": "NM_001990.4",
"protein_id": "NP_001981.2",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 573,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373871.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001990.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Gly400Asp",
"transcript": "ENST00000373871.8",
"protein_id": "ENSP00000362978.3",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 573,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001990.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373871.8"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Gly354Asp",
"transcript": "ENST00000373863.3",
"protein_id": "ENSP00000362970.3",
"transcript_support_level": 1,
"aa_start": 354,
"aa_end": null,
"aa_length": 536,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373863.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "n.1409G>A",
"hgvs_p": null,
"transcript": "ENST00000471498.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471498.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Gly400Asp",
"transcript": "ENST00000898704.1",
"protein_id": "ENSP00000568763.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 576,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898704.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Gly400Asp",
"transcript": "ENST00000931307.1",
"protein_id": "ENSP00000601366.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 576,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931307.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Gly400Asp",
"transcript": "ENST00000898701.1",
"protein_id": "ENSP00000568760.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 573,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898701.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Gly400Asp",
"transcript": "ENST00000898706.1",
"protein_id": "ENSP00000568765.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 573,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898706.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Gly400Asp",
"transcript": "ENST00000954597.1",
"protein_id": "ENSP00000624656.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 573,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954597.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Gly399Asp",
"transcript": "ENST00000898702.1",
"protein_id": "ENSP00000568761.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 572,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898702.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Gly399Asp",
"transcript": "ENST00000898703.1",
"protein_id": "ENSP00000568762.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 572,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898703.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Gly354Asp",
"transcript": "NM_001282560.2",
"protein_id": "NP_001269489.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 536,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282560.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Gly354Asp",
"transcript": "ENST00000898700.1",
"protein_id": "ENSP00000568759.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 530,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898700.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Gly354Asp",
"transcript": "NM_001282561.2",
"protein_id": "NP_001269490.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 527,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282561.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Gly354Asp",
"transcript": "ENST00000540618.5",
"protein_id": "ENSP00000442558.1",
"transcript_support_level": 2,
"aa_start": 354,
"aa_end": null,
"aa_length": 527,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540618.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Gly354Asp",
"transcript": "ENST00000931306.1",
"protein_id": "ENSP00000601365.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 527,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931306.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Gly354Asp",
"transcript": "ENST00000931308.1",
"protein_id": "ENSP00000601367.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 527,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931308.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1052G>A",
"hgvs_p": "p.Gly351Asp",
"transcript": "ENST00000898705.1",
"protein_id": "ENSP00000568764.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 524,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898705.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Gly347Asp",
"transcript": "NM_001282562.2",
"protein_id": "NP_001269491.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 520,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282562.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Gly243Asp",
"transcript": "ENST00000373864.5",
"protein_id": "ENSP00000362971.1",
"transcript_support_level": 5,
"aa_start": 243,
"aa_end": null,
"aa_length": 416,
"cds_start": 728,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373864.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1205G>A",
"hgvs_p": "p.Gly402Asp",
"transcript": "XM_011540999.3",
"protein_id": "XP_011539301.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 584,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540999.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA3",
"gene_hgnc_id": 3521,
"hgvs_c": "c.1205G>A",
"hgvs_p": "p.Gly402Asp",
"transcript": "XM_024453987.2",
"protein_id": "XP_024309755.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 584,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"feature": "XM_024453987.2"
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{
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],
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],
"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
}