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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: 2-201285014-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201285014&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201285014,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000673742.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "NM_001372051.1",
"protein_id": "NP_001358980.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 479,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": "ENST00000673742.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "ENST00000673742.1",
"protein_id": "ENSP00000501268.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 479,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": "NM_001372051.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1178A>G",
"hgvs_p": "p.Tyr393Cys",
"transcript": "ENST00000358485.8",
"protein_id": "ENSP00000351273.4",
"transcript_support_level": 1,
"aa_start": 393,
"aa_end": null,
"aa_length": 538,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 2930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Tyr351Cys",
"transcript": "ENST00000264275.9",
"protein_id": "ENSP00000264275.5",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 496,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.956A>G",
"hgvs_p": "p.Tyr319Cys",
"transcript": "ENST00000323492.11",
"protein_id": "ENSP00000325722.7",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 464,
"cds_start": 956,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.*306A>G",
"hgvs_p": null,
"transcript": "ENST00000339403.6",
"protein_id": "ENSP00000512271.1",
"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": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.*306A>G",
"hgvs_p": null,
"transcript": "ENST00000339403.6",
"protein_id": "ENSP00000512271.1",
"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": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1178A>G",
"hgvs_p": "p.Tyr393Cys",
"transcript": "NM_001080125.2",
"protein_id": "NP_001073594.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 538,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 2929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "NM_001400642.1",
"protein_id": "NP_001387571.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 523,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "ENST00000696085.1",
"protein_id": "ENSP00000512381.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 523,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 2749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Tyr351Cys",
"transcript": "NM_001228.5",
"protein_id": "NP_001219.2",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 496,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Tyr345Cys",
"transcript": "NM_001400645.1",
"protein_id": "NP_001387574.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 490,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "NM_001400648.1",
"protein_id": "NP_001387577.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 479,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "NM_001400651.1",
"protein_id": "NP_001387580.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 479,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "NM_001400653.1",
"protein_id": "NP_001387582.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 479,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "NM_001400654.1",
"protein_id": "NP_001387583.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 479,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 2675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "NM_001400655.1",
"protein_id": "NP_001387584.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 479,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "NM_001400656.1",
"protein_id": "NP_001387585.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 479,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "NM_001400657.1",
"protein_id": "NP_001387586.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 479,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "NM_033355.4",
"protein_id": "NP_203519.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 479,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "ENST00000413726.6",
"protein_id": "ENSP00000397528.2",
"transcript_support_level": 5,
"aa_start": 334,
"aa_end": null,
"aa_length": 479,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "ENST00000432109.6",
"protein_id": "ENSP00000412523.2",
"transcript_support_level": 5,
"aa_start": 334,
"aa_end": null,
"aa_length": 479,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 1629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
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"phenotype_combined": "Autoimmune lymphoproliferative syndrome type 2B",
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}
],
"message": null
}