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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: 10-95346408-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95346408&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 95346408,
"ref": "T",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000371247.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2427A>T",
"hgvs_p": "p.Leu809Leu",
"transcript": "NM_001034954.3",
"protein_id": "NP_001030126.2",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 1292,
"cds_start": 2427,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 2610,
"cdna_end": null,
"cdna_length": 7348,
"mane_select": "ENST00000371247.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2427A>T",
"hgvs_p": "p.Leu809Leu",
"transcript": "ENST00000371247.7",
"protein_id": "ENSP00000360293.2",
"transcript_support_level": 5,
"aa_start": 809,
"aa_end": null,
"aa_length": 1292,
"cds_start": 2427,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 2610,
"cdna_end": null,
"cdna_length": 7348,
"mane_select": "NM_001034954.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2427A>T",
"hgvs_p": "p.Leu809Leu",
"transcript": "ENST00000361941.7",
"protein_id": "ENSP00000355136.3",
"transcript_support_level": 1,
"aa_start": 809,
"aa_end": null,
"aa_length": 1292,
"cds_start": 2427,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 2454,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2289A>T",
"hgvs_p": "p.Leu763Leu",
"transcript": "ENST00000371227.8",
"protein_id": "ENSP00000360271.3",
"transcript_support_level": 1,
"aa_start": 763,
"aa_end": null,
"aa_length": 1266,
"cds_start": 2289,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 2479,
"cdna_end": null,
"cdna_length": 7279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2493A>T",
"hgvs_p": "p.Leu831Leu",
"transcript": "ENST00000277982.9",
"protein_id": "ENSP00000277982.5",
"transcript_support_level": 1,
"aa_start": 831,
"aa_end": null,
"aa_length": 1151,
"cds_start": 2493,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 2520,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.1980A>T",
"hgvs_p": "p.Leu660Leu",
"transcript": "ENST00000371245.7",
"protein_id": "ENSP00000360291.2",
"transcript_support_level": 1,
"aa_start": 660,
"aa_end": null,
"aa_length": 905,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2007,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.1773A>T",
"hgvs_p": "p.Leu591Leu",
"transcript": "ENST00000371249.6",
"protein_id": "ENSP00000360295.2",
"transcript_support_level": 1,
"aa_start": 591,
"aa_end": null,
"aa_length": 816,
"cds_start": 1773,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 5927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.1668A>T",
"hgvs_p": "p.Leu556Leu",
"transcript": "ENST00000306402.10",
"protein_id": "ENSP00000302556.6",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 781,
"cds_start": 1668,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 5858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3303A>T",
"hgvs_p": "p.Leu1101Leu",
"transcript": "NM_001384452.1",
"protein_id": "NP_001371381.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1628,
"cds_start": 3303,
"cds_end": null,
"cds_length": 4887,
"cdna_start": 3486,
"cdna_end": null,
"cdna_length": 8356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3276A>T",
"hgvs_p": "p.Leu1092Leu",
"transcript": "NM_001384448.1",
"protein_id": "NP_001371377.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1619,
"cds_start": 3276,
"cds_end": null,
"cds_length": 4860,
"cdna_start": 3459,
"cdna_end": null,
"cdna_length": 8329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3276A>T",
"hgvs_p": "p.Leu1092Leu",
"transcript": "ENST00000649575.2",
"protein_id": "ENSP00000497106.2",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1619,
"cds_start": 3276,
"cds_end": null,
"cds_length": 4860,
"cdna_start": 3480,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3237A>T",
"hgvs_p": "p.Leu1079Leu",
"transcript": "NM_001384447.1",
"protein_id": "NP_001371376.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1606,
"cds_start": 3237,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 3420,
"cdna_end": null,
"cdna_length": 8290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3303A>T",
"hgvs_p": "p.Leu1101Leu",
"transcript": "NM_001384449.1",
"protein_id": "NP_001371378.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1584,
"cds_start": 3303,
"cds_end": null,
"cds_length": 4755,
"cdna_start": 3486,
"cdna_end": null,
"cdna_length": 8224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3237A>T",
"hgvs_p": "p.Leu1079Leu",
"transcript": "NM_001384450.1",
"protein_id": "NP_001371379.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1562,
"cds_start": 3237,
"cds_end": null,
"cds_length": 4689,
"cdna_start": 3420,
"cdna_end": null,
"cdna_length": 8158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3303A>T",
"hgvs_p": "p.Leu1101Leu",
"transcript": "NM_001384453.1",
"protein_id": "NP_001371382.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1326,
"cds_start": 3303,
"cds_end": null,
"cds_length": 3981,
"cdna_start": 3486,
"cdna_end": null,
"cdna_length": 7450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3303A>T",
"hgvs_p": "p.Leu1101Leu",
"transcript": "NM_001384454.1",
"protein_id": "NP_001371383.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1326,
"cds_start": 3303,
"cds_end": null,
"cds_length": 3981,
"cdna_start": 3608,
"cdna_end": null,
"cdna_length": 7572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2427A>T",
"hgvs_p": "p.Leu809Leu",
"transcript": "NM_001419685.1",
"protein_id": "NP_001406614.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 1312,
"cds_start": 2427,
"cds_end": null,
"cds_length": 3939,
"cdna_start": 2610,
"cdna_end": null,
"cdna_length": 7408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3237A>T",
"hgvs_p": "p.Leu1079Leu",
"transcript": "NM_001384451.1",
"protein_id": "NP_001371380.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3237,
"cds_end": null,
"cds_length": 3915,
"cdna_start": 3420,
"cdna_end": null,
"cdna_length": 7384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.3207A>T",
"hgvs_p": "p.Leu1069Leu",
"transcript": "ENST00000607232.5",
"protein_id": "ENSP00000475901.1",
"transcript_support_level": 5,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3207,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3374,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2364A>T",
"hgvs_p": "p.Leu788Leu",
"transcript": "NM_001419702.1",
"protein_id": "NP_001406631.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 1291,
"cds_start": 2364,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 2547,
"cdna_end": null,
"cdna_length": 7345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2289A>T",
"hgvs_p": "p.Leu763Leu",
"transcript": "NM_001290294.2",
"protein_id": "NP_001277223.2",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 1266,
"cds_start": 2289,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 2472,
"cdna_end": null,
"cdna_length": 7270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS1",
"gene_hgnc_id": 14565,
"hgvs_c": "c.2493A>T",
"hgvs_p": "p.Leu831Leu",
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}
],
"message": null
}