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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: 6-8413698-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=8413698&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 8413698,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001370476.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1057T>C",
"hgvs_p": "p.Tyr353His",
"transcript": "NM_001370476.2",
"protein_id": "NP_001357405.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 401,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": "ENST00000644923.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1057T>C",
"hgvs_p": "p.Tyr353His",
"transcript": "ENST00000644923.2",
"protein_id": "ENSP00000496368.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 401,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": "NM_001370476.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1057T>C",
"hgvs_p": "p.Tyr353His",
"transcript": "ENST00000379660.4",
"protein_id": "ENSP00000368981.4",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 401,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.961T>C",
"hgvs_p": "p.Tyr321His",
"transcript": "ENST00000710437.1",
"protein_id": "ENSP00000518269.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 369,
"cds_start": 961,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 3520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1057T>C",
"hgvs_p": "p.Tyr353His",
"transcript": "NM_001142540.2",
"protein_id": "NP_001136012.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 401,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1057T>C",
"hgvs_p": "p.Tyr353His",
"transcript": "NM_001142541.3",
"protein_id": "NP_001136013.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 401,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 3470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1057T>C",
"hgvs_p": "p.Tyr353His",
"transcript": "NM_015948.5",
"protein_id": "NP_057032.2",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 401,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 3832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.961T>C",
"hgvs_p": "p.Tyr321His",
"transcript": "NM_001370478.2",
"protein_id": "NP_001357407.2",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 369,
"cds_start": 961,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.961T>C",
"hgvs_p": "p.Tyr321His",
"transcript": "NM_001370479.2",
"protein_id": "NP_001357408.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 369,
"cds_start": 961,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 3520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.961T>C",
"hgvs_p": "p.Tyr321His",
"transcript": "ENST00000648987.1",
"protein_id": "ENSP00000498054.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 369,
"cds_start": 961,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.868T>C",
"hgvs_p": "p.Tyr290His",
"transcript": "NM_001370477.1",
"protein_id": "NP_001357406.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 338,
"cds_start": 868,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1387T>C",
"hgvs_p": "p.Tyr463His",
"transcript": "XM_047418840.1",
"protein_id": "XP_047274796.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 511,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 3786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1294T>C",
"hgvs_p": "p.Tyr432His",
"transcript": "XM_047418841.1",
"protein_id": "XP_047274797.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 480,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1430,
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"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1057T>C",
"hgvs_p": "p.Tyr353His",
"transcript": "XM_017010910.2",
"protein_id": "XP_016866399.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 401,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 3967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1057T>C",
"hgvs_p": "p.Tyr353His",
"transcript": "XM_017010911.2",
"protein_id": "XP_016866400.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 401,
"cds_start": 1057,
"cds_end": null,
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"cdna_start": 1605,
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"cdna_length": 3868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.970T>C",
"hgvs_p": "p.Tyr324His",
"transcript": "XM_006715103.4",
"protein_id": "XP_006715166.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 372,
"cds_start": 970,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 3542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.964T>C",
"hgvs_p": "p.Tyr322His",
"transcript": "XM_017010912.3",
"protein_id": "XP_016866401.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 370,
"cds_start": 964,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 3495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.964T>C",
"hgvs_p": "p.Tyr322His",
"transcript": "XM_017010913.2",
"protein_id": "XP_016866402.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 370,
"cds_start": 964,
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"cdna_start": 1611,
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"cdna_length": 3874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.961T>C",
"hgvs_p": "p.Tyr321His",
"transcript": "XM_011514648.2",
"protein_id": "XP_011512950.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 369,
"cds_start": 961,
"cds_end": null,
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"cdna_start": 1393,
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"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.961T>C",
"hgvs_p": "p.Tyr321His",
"transcript": "XM_047418842.1",
"protein_id": "XP_047274798.1",
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"aa_end": null,
"aa_length": 369,
"cds_start": 961,
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"cdna_start": 1161,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.961T>C",
"hgvs_p": "p.Tyr321His",
"transcript": "XM_047418843.1",
"protein_id": "XP_047274799.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 369,
"cds_start": 961,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1673,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.961T>C",
"hgvs_p": "p.Tyr321His",
"transcript": "XM_047418844.1",
"protein_id": "XP_047274800.1",
"transcript_support_level": null,
"aa_start": 321,
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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
}