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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: 6-24554547-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=24554547&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 24554547,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014809.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2942G>A",
"hgvs_p": "p.Cys981Tyr",
"transcript": "NM_014809.4",
"protein_id": "NP_055624.2",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2942,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 3503,
"cdna_end": null,
"cdna_length": 6838,
"mane_select": "ENST00000378214.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2942G>A",
"hgvs_p": "p.Cys981Tyr",
"transcript": "ENST00000378214.8",
"protein_id": "ENSP00000367459.3",
"transcript_support_level": 1,
"aa_start": 981,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2942,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 3503,
"cdna_end": null,
"cdna_length": 6838,
"mane_select": "NM_014809.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.1175G>A",
"hgvs_p": "p.Cys392Tyr",
"transcript": "ENST00000616673.4",
"protein_id": "ENSP00000483665.1",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 483,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 5315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2857+2060G>A",
"hgvs_p": null,
"transcript": "ENST00000537886.5",
"protein_id": "ENSP00000439700.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1011,
"cds_start": -4,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2942G>A",
"hgvs_p": "p.Cys981Tyr",
"transcript": "NM_001168375.2",
"protein_id": "NP_001161847.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2942,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 3612,
"cdna_end": null,
"cdna_length": 6947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2942G>A",
"hgvs_p": "p.Cys981Tyr",
"transcript": "NM_001350403.2",
"protein_id": "NP_001337332.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2942,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 3204,
"cdna_end": null,
"cdna_length": 6539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2924G>A",
"hgvs_p": "p.Cys975Tyr",
"transcript": "NM_001350404.2",
"protein_id": "NP_001337333.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2924,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 3343,
"cdna_end": null,
"cdna_length": 6678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2915G>A",
"hgvs_p": "p.Cys972Tyr",
"transcript": "NM_001168374.2",
"protein_id": "NP_001161846.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2915,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 3594,
"cdna_end": null,
"cdna_length": 6929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2915G>A",
"hgvs_p": "p.Cys972Tyr",
"transcript": "ENST00000535378.5",
"protein_id": "ENSP00000442403.1",
"transcript_support_level": 2,
"aa_start": 972,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2915,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 3558,
"cdna_end": null,
"cdna_length": 6896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2843G>A",
"hgvs_p": "p.Cys948Tyr",
"transcript": "NM_001350405.2",
"protein_id": "NP_001337334.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2843,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 3513,
"cdna_end": null,
"cdna_length": 6848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2807G>A",
"hgvs_p": "p.Cys936Tyr",
"transcript": "NM_001168376.2",
"protein_id": "NP_001161848.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2807,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 3452,
"cdna_end": null,
"cdna_length": 6787,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2807G>A",
"hgvs_p": "p.Cys936Tyr",
"transcript": "NM_001350406.2",
"protein_id": "NP_001337335.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2807,
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"cds_length": 3084,
"cdna_start": 3044,
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"cdna_length": 6379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2807G>A",
"hgvs_p": "p.Cys936Tyr",
"transcript": "ENST00000430948.6",
"protein_id": "ENSP00000401086.2",
"transcript_support_level": 2,
"aa_start": 936,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2807,
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"cdna_start": 3282,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2486G>A",
"hgvs_p": "p.Cys829Tyr",
"transcript": "NM_001350409.2",
"protein_id": "NP_001337338.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2486G>A",
"hgvs_p": "p.Cys829Tyr",
"transcript": "NM_001350410.2",
"protein_id": "NP_001337339.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 920,
"cds_start": 2486,
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"cdna_start": 3307,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.1175G>A",
"hgvs_p": "p.Cys392Tyr",
"transcript": "NM_001252328.2",
"protein_id": "NP_001239257.1",
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2915G>A",
"hgvs_p": "p.Cys972Tyr",
"transcript": "XM_017011541.2",
"protein_id": "XP_016867030.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2915,
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"cdna_start": 3703,
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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": false,
"consequences": [
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],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2942G>A",
"hgvs_p": "p.Cys981Tyr",
"transcript": "XM_047419602.1",
"protein_id": "XP_047275558.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
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"cds_start": 2942,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2843G>A",
"hgvs_p": "p.Cys948Tyr",
"transcript": "XM_017011544.2",
"protein_id": "XP_016867033.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2843G>A",
"hgvs_p": "p.Cys948Tyr",
"transcript": "XM_047419603.1",
"protein_id": "XP_047275559.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2857+2060G>A",
"hgvs_p": null,
"transcript": "NM_001168377.2",
"protein_id": "NP_001161849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2857+2060G>A",
"hgvs_p": null,
"transcript": "NM_001350407.2",
"protein_id": "NP_001337336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 978,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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"inheritance_mode": "AR",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}