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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: 19-10350910-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10350910&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10350910,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000525621.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3488A>G",
"hgvs_p": "p.Glu1163Gly",
"transcript": "NM_003331.5",
"protein_id": "NP_003322.3",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3488,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 3866,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": "ENST00000525621.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3488A>G",
"hgvs_p": "p.Glu1163Gly",
"transcript": "ENST00000525621.6",
"protein_id": "ENSP00000431885.1",
"transcript_support_level": 1,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3488,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 3866,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": "NM_003331.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2933A>G",
"hgvs_p": "p.Glu978Gly",
"transcript": "ENST00000524462.5",
"protein_id": "ENSP00000433203.1",
"transcript_support_level": 1,
"aa_start": 978,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2933,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 3079,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3698A>G",
"hgvs_p": "p.Glu1233Gly",
"transcript": "NM_001385204.1",
"protein_id": "NP_001372133.1",
"transcript_support_level": null,
"aa_start": 1233,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3698,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 4076,
"cdna_end": null,
"cdna_length": 4453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3569A>G",
"hgvs_p": "p.Glu1190Gly",
"transcript": "NM_001385203.1",
"protein_id": "NP_001372132.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3569,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3947,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3488A>G",
"hgvs_p": "p.Glu1163Gly",
"transcript": "NM_001406461.1",
"protein_id": "NP_001393390.1",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3488,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 3776,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3488A>G",
"hgvs_p": "p.Glu1163Gly",
"transcript": "ENST00000531836.7",
"protein_id": "ENSP00000436175.2",
"transcript_support_level": 4,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3488,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 3776,
"cdna_end": null,
"cdna_length": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3485A>G",
"hgvs_p": "p.Glu1162Gly",
"transcript": "NM_001385200.1",
"protein_id": "NP_001372129.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3485,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 3863,
"cdna_end": null,
"cdna_length": 4240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3470A>G",
"hgvs_p": "p.Glu1157Gly",
"transcript": "NM_001385207.1",
"protein_id": "NP_001372136.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1181,
"cds_start": 3470,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 3848,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3446A>G",
"hgvs_p": "p.Glu1149Gly",
"transcript": "ENST00000699360.1",
"protein_id": "ENSP00000514331.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3446,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 3860,
"cdna_end": null,
"cdna_length": 4201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3404A>G",
"hgvs_p": "p.Glu1135Gly",
"transcript": "NM_001385202.1",
"protein_id": "NP_001372131.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3404,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 3782,
"cdna_end": null,
"cdna_length": 4159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3398A>G",
"hgvs_p": "p.Glu1133Gly",
"transcript": "NM_001385205.1",
"protein_id": "NP_001372134.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1157,
"cds_start": 3398,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 3776,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3377A>G",
"hgvs_p": "p.Glu1126Gly",
"transcript": "NM_001385197.1",
"protein_id": "NP_001372126.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3377,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3755,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3377A>G",
"hgvs_p": "p.Glu1126Gly",
"transcript": "ENST00000525976.6",
"protein_id": "ENSP00000434831.2",
"transcript_support_level": 3,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3377,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3791,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3362A>G",
"hgvs_p": "p.Glu1121Gly",
"transcript": "NM_001385206.1",
"protein_id": "NP_001372135.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3362,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 3740,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3338A>G",
"hgvs_p": "p.Glu1113Gly",
"transcript": "NM_001385198.1",
"protein_id": "NP_001372127.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 3716,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3302A>G",
"hgvs_p": "p.Glu1101Gly",
"transcript": "NM_001385199.1",
"protein_id": "NP_001372128.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3302,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 3590,
"cdna_end": null,
"cdna_length": 3967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3290A>G",
"hgvs_p": "p.Glu1097Gly",
"transcript": "NM_001385201.1",
"protein_id": "NP_001372130.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3290,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 3668,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.557A>G",
"hgvs_p": "p.Glu186Gly",
"transcript": "ENST00000699365.1",
"protein_id": "ENSP00000514334.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 210,
"cds_start": 557,
"cds_end": null,
"cds_length": 633,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3191A>G",
"hgvs_p": "p.Glu1064Gly",
"transcript": "XM_011528246.4",
"protein_id": "XP_011526548.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1088,
"cds_start": 3191,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 3610,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3191A>G",
"hgvs_p": "p.Glu1064Gly",
"transcript": "XM_011528247.2",
"protein_id": "XP_011526549.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1088,
"cds_start": 3191,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 3317,
"cdna_end": null,
"cdna_length": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2162A>G",
"hgvs_p": "p.Glu721Gly",
"transcript": "XM_011528249.3",
"protein_id": "XP_011526551.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 745,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2323,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
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{
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"clinvar_submissions_summary": "B:4",
"phenotype_combined": "Immunodeficiency 35|not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}