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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: 19-10350838-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10350838&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10350838,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000525621.6",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3560G>A",
"hgvs_p": "p.Cys1187Tyr",
"transcript": "NM_003331.5",
"protein_id": "NP_003322.3",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3560,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 3938,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": "ENST00000525621.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3560G>A",
"hgvs_p": "p.Cys1187Tyr",
"transcript": "ENST00000525621.6",
"protein_id": "ENSP00000431885.1",
"transcript_support_level": 1,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3560,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 3938,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": "NM_003331.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3005G>A",
"hgvs_p": "p.Cys1002Tyr",
"transcript": "ENST00000524462.5",
"protein_id": "ENSP00000433203.1",
"transcript_support_level": 1,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1002,
"cds_start": 3005,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 3151,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3770G>A",
"hgvs_p": "p.Cys1257Tyr",
"transcript": "NM_001385204.1",
"protein_id": "NP_001372133.1",
"transcript_support_level": null,
"aa_start": 1257,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3770,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 4148,
"cdna_end": null,
"cdna_length": 4453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3641G>A",
"hgvs_p": "p.Cys1214Tyr",
"transcript": "NM_001385203.1",
"protein_id": "NP_001372132.1",
"transcript_support_level": null,
"aa_start": 1214,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3641,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 4019,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3560G>A",
"hgvs_p": "p.Cys1187Tyr",
"transcript": "NM_001406461.1",
"protein_id": "NP_001393390.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3560,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 3848,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3560G>A",
"hgvs_p": "p.Cys1187Tyr",
"transcript": "ENST00000531836.7",
"protein_id": "ENSP00000436175.2",
"transcript_support_level": 4,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3560,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 3848,
"cdna_end": null,
"cdna_length": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3557G>A",
"hgvs_p": "p.Cys1186Tyr",
"transcript": "NM_001385200.1",
"protein_id": "NP_001372129.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3557,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 3935,
"cdna_end": null,
"cdna_length": 4240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3542G>A",
"hgvs_p": "p.Cys1181Tyr",
"transcript": "NM_001385207.1",
"protein_id": "NP_001372136.1",
"transcript_support_level": null,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1181,
"cds_start": 3542,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 3920,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3518G>A",
"hgvs_p": "p.Cys1173Tyr",
"transcript": "ENST00000699360.1",
"protein_id": "ENSP00000514331.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3518,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 3932,
"cdna_end": null,
"cdna_length": 4201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3476G>A",
"hgvs_p": "p.Cys1159Tyr",
"transcript": "NM_001385202.1",
"protein_id": "NP_001372131.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3476,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 3854,
"cdna_end": null,
"cdna_length": 4159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3470G>A",
"hgvs_p": "p.Cys1157Tyr",
"transcript": "NM_001385205.1",
"protein_id": "NP_001372134.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1157,
"cds_start": 3470,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 3848,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3449G>A",
"hgvs_p": "p.Cys1150Tyr",
"transcript": "NM_001385197.1",
"protein_id": "NP_001372126.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3449,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3827,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3449G>A",
"hgvs_p": "p.Cys1150Tyr",
"transcript": "ENST00000525976.6",
"protein_id": "ENSP00000434831.2",
"transcript_support_level": 3,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3449,
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"cds_length": 3453,
"cdna_start": 3863,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3434G>A",
"hgvs_p": "p.Cys1145Tyr",
"transcript": "NM_001385206.1",
"protein_id": "NP_001372135.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3434,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 3812,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3410G>A",
"hgvs_p": "p.Cys1137Tyr",
"transcript": "NM_001385198.1",
"protein_id": "NP_001372127.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3410,
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"cdna_start": 3788,
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"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3374G>A",
"hgvs_p": "p.Cys1125Tyr",
"transcript": "NM_001385199.1",
"protein_id": "NP_001372128.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3374,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 3662,
"cdna_end": null,
"cdna_length": 3967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3362G>A",
"hgvs_p": "p.Cys1121Tyr",
"transcript": "NM_001385201.1",
"protein_id": "NP_001372130.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3362,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 3740,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.629G>A",
"hgvs_p": "p.Cys210Tyr",
"transcript": "ENST00000699365.1",
"protein_id": "ENSP00000514334.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 210,
"cds_start": 629,
"cds_end": null,
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"cdna_start": 763,
"cdna_end": null,
"cdna_length": 1024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3263G>A",
"hgvs_p": "p.Cys1088Tyr",
"transcript": "XM_011528246.4",
"protein_id": "XP_011526548.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1088,
"cds_start": 3263,
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"cdna_start": 3682,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.3263G>A",
"hgvs_p": "p.Cys1088Tyr",
"transcript": "XM_011528247.2",
"protein_id": "XP_011526549.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1088,
"cds_start": 3263,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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.2234G>A",
"hgvs_p": "p.Cys745Tyr",
"transcript": "XM_011528249.3",
"protein_id": "XP_011526551.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 745,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2395,
"cdna_end": null,
"cdna_length": 2700,
"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": 24,
"exon_rank_end": null,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
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{
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Immunodeficiency 35",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}