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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: 17-39905964-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39905964&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 39905964,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000418519.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Gly304Trp",
"transcript": "NM_001165958.2",
"protein_id": "NP_001159430.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 416,
"cds_start": 910,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 1584,
"mane_select": "ENST00000418519.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Gly304Trp",
"transcript": "ENST00000418519.6",
"protein_id": "ENSP00000415049.1",
"transcript_support_level": 5,
"aa_start": 304,
"aa_end": null,
"aa_length": 416,
"cds_start": 910,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 1584,
"mane_select": "NM_001165958.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Gly304Trp",
"transcript": "ENST00000360317.7",
"protein_id": "ENSP00000353465.3",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 416,
"cds_start": 910,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Gly291Trp",
"transcript": "ENST00000394179.5",
"protein_id": "ENSP00000377733.2",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 403,
"cds_start": 871,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 1427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "c.844G>T",
"hgvs_p": "p.Gly282Trp",
"transcript": "ENST00000394175.6",
"protein_id": "ENSP00000377729.2",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 394,
"cds_start": 844,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "n.1651G>T",
"hgvs_p": null,
"transcript": "ENST00000479136.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Gly304Trp",
"transcript": "NM_001388420.1",
"protein_id": "NP_001375349.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 416,
"cds_start": 910,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "c.883G>T",
"hgvs_p": "p.Gly295Trp",
"transcript": "NM_001165959.2",
"protein_id": "NP_001159431.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 407,
"cds_start": 883,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "c.883G>T",
"hgvs_p": "p.Gly295Trp",
"transcript": "NM_001388421.1",
"protein_id": "NP_001375350.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 407,
"cds_start": 883,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 2760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "c.883G>T",
"hgvs_p": "p.Gly295Trp",
"transcript": "ENST00000520542.5",
"protein_id": "ENSP00000430157.1",
"transcript_support_level": 2,
"aa_start": 295,
"aa_end": null,
"aa_length": 407,
"cds_start": 883,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Gly291Trp",
"transcript": "NM_001042471.2",
"protein_id": "NP_001035936.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 403,
"cds_start": 871,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Gly291Trp",
"transcript": "NM_001369402.2",
"protein_id": "NP_001356331.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 403,
"cds_start": 871,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 2748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Gly291Trp",
"transcript": "NM_001388422.1",
"protein_id": "NP_001375351.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 403,
"cds_start": 871,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Gly291Trp",
"transcript": "ENST00000309481.11",
"protein_id": "ENSP00000312584.7",
"transcript_support_level": 2,
"aa_start": 291,
"aa_end": null,
"aa_length": 403,
"cds_start": 871,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "c.844G>T",
"hgvs_p": "p.Gly282Trp",
"transcript": "NM_001388423.1",
"protein_id": "NP_001375352.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 394,
"cds_start": 844,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 1509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "c.844G>T",
"hgvs_p": "p.Gly282Trp",
"transcript": "NM_018530.3",
"protein_id": "NP_061000.2",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 394,
"cds_start": 844,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 2163,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "c.598G>T",
"hgvs_p": "p.Gly200Trp",
"transcript": "NM_001388424.1",
"protein_id": "NP_001375353.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 312,
"cds_start": 598,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "n.4098G>T",
"hgvs_p": null,
"transcript": "ENST00000477054.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "n.*65G>T",
"hgvs_p": null,
"transcript": "ENST00000522564.5",
"protein_id": "ENSP00000428217.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "n.*183G>T",
"hgvs_p": null,
"transcript": "ENST00000523371.5",
"protein_id": "ENSP00000429265.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "n.*147G>T",
"hgvs_p": null,
"transcript": "ENST00000524039.5",
"protein_id": "ENSP00000428712.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "n.1004G>T",
"hgvs_p": null,
"transcript": "NR_170970.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMB",
"gene_hgnc_id": 23690,
"hgvs_c": "n.2105G>T",
"hgvs_p": null,
"transcript": "NR_170971.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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}
],
"message": null
}