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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: 10-96019219-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=96019219&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 96019219,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001349008.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3647T>C",
"hgvs_p": "p.Val1216Ala",
"transcript": "NM_001349008.3",
"protein_id": "NP_001335937.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3647,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 3753,
"cdna_end": null,
"cdna_length": 6157,
"mane_select": "ENST00000646931.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349008.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3647T>C",
"hgvs_p": "p.Val1216Ala",
"transcript": "ENST00000646931.3",
"protein_id": "ENSP00000496666.2",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3647,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 3753,
"cdna_end": null,
"cdna_length": 6157,
"mane_select": "NM_001349008.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646931.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "n.703T>C",
"hgvs_p": null,
"transcript": "ENST00000344386.4",
"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": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000344386.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.2787A>G",
"hgvs_p": null,
"transcript": "ENST00000458228.6",
"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": 3286,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000458228.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2747T>C",
"hgvs_p": "p.Val916Ala",
"transcript": "ENST00000636965.1",
"protein_id": "ENSP00000490447.1",
"transcript_support_level": 5,
"aa_start": 916,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2747,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 2817,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636965.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Val180Ala",
"transcript": "NM_001159747.2",
"protein_id": "NP_001153219.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 401,
"cds_start": 539,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159747.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Val180Ala",
"transcript": "NM_001001732.4",
"protein_id": "NP_001001732.2",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 322,
"cds_start": 539,
"cds_end": null,
"cds_length": 969,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001732.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3647T>C",
"hgvs_p": "p.Val1216Ala",
"transcript": "XM_024447995.2",
"protein_id": "XP_024303763.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3647,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 3761,
"cdna_end": null,
"cdna_length": 6165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447995.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3623T>C",
"hgvs_p": "p.Val1208Ala",
"transcript": "XM_024447996.2",
"protein_id": "XP_024303764.1",
"transcript_support_level": null,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1429,
"cds_start": 3623,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 6213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447996.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3533T>C",
"hgvs_p": "p.Val1178Ala",
"transcript": "XM_024447998.2",
"protein_id": "XP_024303766.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3533,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 3639,
"cdna_end": null,
"cdna_length": 6043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447998.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3518T>C",
"hgvs_p": "p.Val1173Ala",
"transcript": "XM_024447999.2",
"protein_id": "XP_024303767.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1394,
"cds_start": 3518,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 3624,
"cdna_end": null,
"cdna_length": 6028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447999.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3464T>C",
"hgvs_p": "p.Val1155Ala",
"transcript": "XM_024448001.2",
"protein_id": "XP_024303769.1",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1376,
"cds_start": 3464,
"cds_end": null,
"cds_length": 4131,
"cdna_start": 3570,
"cdna_end": null,
"cdna_length": 5974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448001.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3647T>C",
"hgvs_p": "p.Val1216Ala",
"transcript": "XM_024448002.2",
"protein_id": "XP_024303770.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3647,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 3753,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448002.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3647T>C",
"hgvs_p": "p.Val1216Ala",
"transcript": "XM_024448003.2",
"protein_id": "XP_024303771.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3647,
"cds_end": null,
"cds_length": 3894,
"cdna_start": 3753,
"cdna_end": null,
"cdna_length": 4703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448003.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3170T>C",
"hgvs_p": "p.Val1057Ala",
"transcript": "XM_024448004.2",
"protein_id": "XP_024303772.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 3276,
"cdna_end": null,
"cdna_length": 5680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448004.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3086T>C",
"hgvs_p": "p.Val1029Ala",
"transcript": "XM_011539789.4",
"protein_id": "XP_011538091.2",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3086,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 3192,
"cdna_end": null,
"cdna_length": 5596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539789.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2816T>C",
"hgvs_p": "p.Val939Ala",
"transcript": "XM_047425225.1",
"protein_id": "XP_047281181.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2816,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 2934,
"cdna_end": null,
"cdna_length": 5338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425225.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2639T>C",
"hgvs_p": "p.Val880Ala",
"transcript": "XM_047425226.1",
"protein_id": "XP_047281182.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1101,
"cds_start": 2639,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 2737,
"cdna_end": null,
"cdna_length": 5141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425226.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2525T>C",
"hgvs_p": "p.Val842Ala",
"transcript": "XM_047425227.1",
"protein_id": "XP_047281183.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2525,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 2801,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425227.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3046-5634T>C",
"hgvs_p": null,
"transcript": "XM_024448005.2",
"protein_id": "XP_024303773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1156,
"cds_start": null,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448005.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "n.750T>C",
"hgvs_p": null,
"transcript": "ENST00000410012.7",
"protein_id": null,
"transcript_support_level": 2,
"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": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000410012.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.275+70047A>G",
"hgvs_p": null,
"transcript": "ENST00000416301.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}