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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: 16-15039970-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15039970&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 15039970,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_173474.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTAN1",
"gene_hgnc_id": 29909,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Pro213Leu",
"transcript": "NM_173474.4",
"protein_id": "NP_775745.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 310,
"cds_start": 638,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000287706.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173474.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTAN1",
"gene_hgnc_id": 29909,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Pro213Leu",
"transcript": "ENST00000287706.8",
"protein_id": "ENSP00000287706.3",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 310,
"cds_start": 638,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173474.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287706.8"
},
{
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.1399+9914G>A",
"hgvs_p": null,
"transcript": "ENST00000535621.6",
"protein_id": "ENSP00000437835.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": null,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535621.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTAN1",
"gene_hgnc_id": 29909,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000566419.1",
"protein_id": "ENSP00000454883.1",
"transcript_support_level": 3,
"aa_start": 186,
"aa_end": null,
"aa_length": 222,
"cds_start": 557,
"cds_end": null,
"cds_length": 670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566419.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTAN1",
"gene_hgnc_id": 29909,
"hgvs_c": "c.323C>T",
"hgvs_p": "p.Pro108Leu",
"transcript": "NM_001270766.2",
"protein_id": "NP_001257695.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 205,
"cds_start": 323,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270766.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTAN1",
"gene_hgnc_id": 29909,
"hgvs_c": "c.323C>T",
"hgvs_p": "p.Pro108Leu",
"transcript": "NM_001270767.2",
"protein_id": "NP_001257696.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 205,
"cds_start": 323,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270767.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTAN1",
"gene_hgnc_id": 29909,
"hgvs_c": "c.323C>T",
"hgvs_p": "p.Pro108Leu",
"transcript": "ENST00000622833.4",
"protein_id": "ENSP00000483643.1",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 205,
"cds_start": 323,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622833.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTAN1",
"gene_hgnc_id": 29909,
"hgvs_c": "c.323C>T",
"hgvs_p": "p.Pro108Leu",
"transcript": "ENST00000624579.3",
"protein_id": "ENSP00000485340.1",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 205,
"cds_start": 323,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000624579.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTAN1",
"gene_hgnc_id": 29909,
"hgvs_c": "c.323C>T",
"hgvs_p": "p.Pro108Leu",
"transcript": "ENST00000568320.5",
"protein_id": "ENSP00000455396.1",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 145,
"cds_start": 323,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568320.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTAN1",
"gene_hgnc_id": 29909,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Pro130Leu",
"transcript": "XM_011522355.3",
"protein_id": "XP_011520657.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 227,
"cds_start": 389,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522355.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTAN1",
"gene_hgnc_id": 29909,
"hgvs_c": "c.323C>T",
"hgvs_p": "p.Pro108Leu",
"transcript": "XM_047433587.1",
"protein_id": "XP_047289543.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 205,
"cds_start": 323,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433587.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTAN1",
"gene_hgnc_id": 29909,
"hgvs_c": "c.323C>T",
"hgvs_p": "p.Pro108Leu",
"transcript": "XM_047433588.1",
"protein_id": "XP_047289544.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 205,
"cds_start": 323,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433588.1"
},
{
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.1399+9914G>A",
"hgvs_p": null,
"transcript": "ENST00000850604.1",
"protein_id": "ENSP00000520891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 502,
"cds_start": null,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850604.1"
},
{
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.1399+9914G>A",
"hgvs_p": null,
"transcript": "NM_001285449.2",
"protein_id": "NP_001272378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": null,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001285449.2"
},
{
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.1396+9914G>A",
"hgvs_p": null,
"transcript": "NM_001324020.2",
"protein_id": "NP_001310949.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": null,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324020.2"
},
{
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.1399+9914G>A",
"hgvs_p": null,
"transcript": "ENST00000850603.1",
"protein_id": "ENSP00000520890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850603.1"
},
{
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.1399+9914G>A",
"hgvs_p": null,
"transcript": "ENST00000850605.1",
"protein_id": "ENSP00000520892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": null,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850605.1"
},
{
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.1318+9914G>A",
"hgvs_p": null,
"transcript": "NM_001324021.2",
"protein_id": "NP_001310950.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": null,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324021.2"
},
{
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.1426+9914G>A",
"hgvs_p": null,
"transcript": "XM_047433791.1",
"protein_id": "XP_047289747.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": null,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433791.1"
},
{
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.1354+9914G>A",
"hgvs_p": null,
"transcript": "XM_017023065.2",
"protein_id": "XP_016878554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023065.2"
},
{
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.1354+9914G>A",
"hgvs_p": null,
"transcript": "XM_024450195.2",
"protein_id": "XP_024305963.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450195.2"
},
{
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.1354+9914G>A",
"hgvs_p": null,
"transcript": "XM_024450194.2",
"protein_id": "XP_024305962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": null,
"cds_end": null,
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{
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{
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}