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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: 19-10350923-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10350923&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10350923,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000525621.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"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.3475C>T",
"hgvs_p": "p.Arg1159Cys",
"transcript": "NM_003331.5",
"protein_id": "NP_003322.3",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3475,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 3853,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": "ENST00000525621.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.3475C>T",
"hgvs_p": "p.Arg1159Cys",
"transcript": "ENST00000525621.6",
"protein_id": "ENSP00000431885.1",
"transcript_support_level": 1,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3475,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 3853,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": "NM_003331.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.2920C>T",
"hgvs_p": "p.Arg974Cys",
"transcript": "ENST00000524462.5",
"protein_id": "ENSP00000433203.1",
"transcript_support_level": 1,
"aa_start": 974,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2920,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 3066,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.3685C>T",
"hgvs_p": "p.Arg1229Cys",
"transcript": "NM_001385204.1",
"protein_id": "NP_001372133.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3685,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 4063,
"cdna_end": null,
"cdna_length": 4453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.3556C>T",
"hgvs_p": "p.Arg1186Cys",
"transcript": "NM_001385203.1",
"protein_id": "NP_001372132.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3556,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3934,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.3475C>T",
"hgvs_p": "p.Arg1159Cys",
"transcript": "NM_001406461.1",
"protein_id": "NP_001393390.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3475,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 3763,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.3475C>T",
"hgvs_p": "p.Arg1159Cys",
"transcript": "ENST00000531836.7",
"protein_id": "ENSP00000436175.2",
"transcript_support_level": 4,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3475,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 3763,
"cdna_end": null,
"cdna_length": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.3472C>T",
"hgvs_p": "p.Arg1158Cys",
"transcript": "NM_001385200.1",
"protein_id": "NP_001372129.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3472,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 3850,
"cdna_end": null,
"cdna_length": 4240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.3457C>T",
"hgvs_p": "p.Arg1153Cys",
"transcript": "NM_001385207.1",
"protein_id": "NP_001372136.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1181,
"cds_start": 3457,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 3835,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.3433C>T",
"hgvs_p": "p.Arg1145Cys",
"transcript": "ENST00000699360.1",
"protein_id": "ENSP00000514331.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3433,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 3847,
"cdna_end": null,
"cdna_length": 4201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.3391C>T",
"hgvs_p": "p.Arg1131Cys",
"transcript": "NM_001385202.1",
"protein_id": "NP_001372131.1",
"transcript_support_level": null,
"aa_start": 1131,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3391,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 3769,
"cdna_end": null,
"cdna_length": 4159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.3385C>T",
"hgvs_p": "p.Arg1129Cys",
"transcript": "NM_001385205.1",
"protein_id": "NP_001372134.1",
"transcript_support_level": null,
"aa_start": 1129,
"aa_end": null,
"aa_length": 1157,
"cds_start": 3385,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 3763,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.3364C>T",
"hgvs_p": "p.Arg1122Cys",
"transcript": "NM_001385197.1",
"protein_id": "NP_001372126.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3364,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3742,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.3364C>T",
"hgvs_p": "p.Arg1122Cys",
"transcript": "ENST00000525976.6",
"protein_id": "ENSP00000434831.2",
"transcript_support_level": 3,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3364,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3778,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.3349C>T",
"hgvs_p": "p.Arg1117Cys",
"transcript": "NM_001385206.1",
"protein_id": "NP_001372135.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3349,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 3727,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.3325C>T",
"hgvs_p": "p.Arg1109Cys",
"transcript": "NM_001385198.1",
"protein_id": "NP_001372127.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3325,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 3703,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.3289C>T",
"hgvs_p": "p.Arg1097Cys",
"transcript": "NM_001385199.1",
"protein_id": "NP_001372128.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3289,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 3577,
"cdna_end": null,
"cdna_length": 3967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.3277C>T",
"hgvs_p": "p.Arg1093Cys",
"transcript": "NM_001385201.1",
"protein_id": "NP_001372130.1",
"transcript_support_level": null,
"aa_start": 1093,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3277,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 3655,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.544C>T",
"hgvs_p": "p.Arg182Cys",
"transcript": "ENST00000699365.1",
"protein_id": "ENSP00000514334.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 210,
"cds_start": 544,
"cds_end": null,
"cds_length": 633,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 1024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "ENST00000530560.5",
"protein_id": "ENSP00000465291.1",
"transcript_support_level": 3,
"aa_start": 128,
"aa_end": null,
"aa_length": 142,
"cds_start": 383,
"cds_end": null,
"cds_length": 429,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.3178C>T",
"hgvs_p": "p.Arg1060Cys",
"transcript": "XM_011528246.4",
"protein_id": "XP_011526548.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1088,
"cds_start": 3178,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 3597,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.3178C>T",
"hgvs_p": "p.Arg1060Cys",
"transcript": "XM_011528247.2",
"protein_id": "XP_011526549.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1088,
"cds_start": 3178,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 3304,
"cdna_end": null,
"cdna_length": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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,
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}
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}