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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: 10-96019308-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=96019308&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 96019308,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001349008.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"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.3736A>C",
"hgvs_p": "p.Ser1246Arg",
"transcript": "NM_001349008.3",
"protein_id": "NP_001335937.1",
"transcript_support_level": null,
"aa_start": 1246,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3736,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 3842,
"cdna_end": null,
"cdna_length": 6157,
"mane_select": "ENST00000646931.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349008.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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.3736A>C",
"hgvs_p": "p.Ser1246Arg",
"transcript": "ENST00000646931.3",
"protein_id": "ENSP00000496666.2",
"transcript_support_level": null,
"aa_start": 1246,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3736,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 3842,
"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.792A>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.2698T>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": "S",
"aa_alt": "R",
"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.2836A>C",
"hgvs_p": "p.Ser946Arg",
"transcript": "ENST00000636965.1",
"protein_id": "ENSP00000490447.1",
"transcript_support_level": 5,
"aa_start": 946,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 2906,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636965.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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.628A>C",
"hgvs_p": "p.Ser210Arg",
"transcript": "NM_001159747.2",
"protein_id": "NP_001153219.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 401,
"cds_start": 628,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159747.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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.628A>C",
"hgvs_p": "p.Ser210Arg",
"transcript": "NM_001001732.4",
"protein_id": "NP_001001732.2",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 322,
"cds_start": 628,
"cds_end": null,
"cds_length": 969,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001732.4"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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.3736A>C",
"hgvs_p": "p.Ser1246Arg",
"transcript": "XM_024447995.2",
"protein_id": "XP_024303763.1",
"transcript_support_level": null,
"aa_start": 1246,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3736,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 3850,
"cdna_end": null,
"cdna_length": 6165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447995.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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.3712A>C",
"hgvs_p": "p.Ser1238Arg",
"transcript": "XM_024447996.2",
"protein_id": "XP_024303764.1",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1429,
"cds_start": 3712,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 3898,
"cdna_end": null,
"cdna_length": 6213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447996.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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.3622A>C",
"hgvs_p": "p.Ser1208Arg",
"transcript": "XM_024447998.2",
"protein_id": "XP_024303766.1",
"transcript_support_level": null,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3622,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 3728,
"cdna_end": null,
"cdna_length": 6043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447998.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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.3607A>C",
"hgvs_p": "p.Ser1203Arg",
"transcript": "XM_024447999.2",
"protein_id": "XP_024303767.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1394,
"cds_start": 3607,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 3713,
"cdna_end": null,
"cdna_length": 6028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447999.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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.3553A>C",
"hgvs_p": "p.Ser1185Arg",
"transcript": "XM_024448001.2",
"protein_id": "XP_024303769.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1376,
"cds_start": 3553,
"cds_end": null,
"cds_length": 4131,
"cdna_start": 3659,
"cdna_end": null,
"cdna_length": 5974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448001.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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.3736A>C",
"hgvs_p": "p.Ser1246Arg",
"transcript": "XM_024448002.2",
"protein_id": "XP_024303770.1",
"transcript_support_level": null,
"aa_start": 1246,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3736,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 3842,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448002.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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.3736A>C",
"hgvs_p": "p.Ser1246Arg",
"transcript": "XM_024448003.2",
"protein_id": "XP_024303771.1",
"transcript_support_level": null,
"aa_start": 1246,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3736,
"cds_end": null,
"cds_length": 3894,
"cdna_start": 3842,
"cdna_end": null,
"cdna_length": 4703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448003.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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.3259A>C",
"hgvs_p": "p.Ser1087Arg",
"transcript": "XM_024448004.2",
"protein_id": "XP_024303772.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 3365,
"cdna_end": null,
"cdna_length": 5680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448004.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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.3175A>C",
"hgvs_p": "p.Ser1059Arg",
"transcript": "XM_011539789.4",
"protein_id": "XP_011538091.2",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3175,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 3281,
"cdna_end": null,
"cdna_length": 5596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539789.4"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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.2905A>C",
"hgvs_p": "p.Ser969Arg",
"transcript": "XM_047425225.1",
"protein_id": "XP_047281181.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2905,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3023,
"cdna_end": null,
"cdna_length": 5338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425225.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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.2728A>C",
"hgvs_p": "p.Ser910Arg",
"transcript": "XM_047425226.1",
"protein_id": "XP_047281182.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 1101,
"cds_start": 2728,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 2826,
"cdna_end": null,
"cdna_length": 5141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425226.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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.2614A>C",
"hgvs_p": "p.Ser872Arg",
"transcript": "XM_047425227.1",
"protein_id": "XP_047281183.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2614,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 2890,
"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.3046-5545A>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.839A>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+69958T>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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