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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: 19-10352442-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10352442&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TYK2",
"hgnc_id": 12440,
"hgvs_c": "c.3520C>A",
"hgvs_p": "p.Pro1174Thr",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001385204.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.9509,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7758725881576538,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1187,
"aa_ref": "P",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4243,
"cdna_start": 3688,
"cds_end": null,
"cds_length": 3564,
"cds_start": 3310,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_003331.5",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Pro1104Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000525621.6",
"protein_coding": true,
"protein_id": "NP_003322.3",
"strand": false,
"transcript": "NM_003331.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1187,
"aa_ref": "P",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4243,
"cdna_start": 3688,
"cds_end": null,
"cds_length": 3564,
"cds_start": 3310,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000525621.6",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Pro1104Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003331.5",
"protein_coding": true,
"protein_id": "ENSP00000431885.1",
"strand": false,
"transcript": "ENST00000525621.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "P",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3456,
"cdna_start": 2901,
"cds_end": null,
"cds_length": 3009,
"cds_start": 2755,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000524462.5",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.2755C>A",
"hgvs_p": "p.Pro919Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433203.1",
"strand": false,
"transcript": "ENST00000524462.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1257,
"aa_ref": "P",
"aa_start": 1174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4453,
"cdna_start": 3898,
"cds_end": null,
"cds_length": 3774,
"cds_start": 3520,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001385204.1",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3520C>A",
"hgvs_p": "p.Pro1174Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372133.1",
"strand": false,
"transcript": "NM_001385204.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1214,
"aa_ref": "P",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4324,
"cdna_start": 3769,
"cds_end": null,
"cds_length": 3645,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001385203.1",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3391C>A",
"hgvs_p": "p.Pro1131Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372132.1",
"strand": false,
"transcript": "NM_001385203.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1187,
"aa_ref": "P",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4153,
"cdna_start": 3598,
"cds_end": null,
"cds_length": 3564,
"cds_start": 3310,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001406461.1",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Pro1104Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393390.1",
"strand": false,
"transcript": "NM_001406461.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1187,
"aa_ref": "P",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4158,
"cdna_start": 3598,
"cds_end": null,
"cds_length": 3564,
"cds_start": 3310,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000531836.7",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Pro1104Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436175.2",
"strand": false,
"transcript": "ENST00000531836.7",
"transcript_support_level": 4
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1187,
"aa_ref": "P",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4049,
"cdna_start": 3493,
"cds_end": null,
"cds_length": 3564,
"cds_start": 3310,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000955974.1",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Pro1104Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626033.1",
"strand": false,
"transcript": "ENST00000955974.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "P",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4240,
"cdna_start": 3685,
"cds_end": null,
"cds_length": 3561,
"cds_start": 3307,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001385200.1",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3307C>A",
"hgvs_p": "p.Pro1103Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372129.1",
"strand": false,
"transcript": "NM_001385200.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1181,
"aa_ref": "P",
"aa_start": 1098,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4225,
"cdna_start": 3670,
"cds_end": null,
"cds_length": 3546,
"cds_start": 3292,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001385207.1",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3292C>A",
"hgvs_p": "p.Pro1098Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372136.1",
"strand": false,
"transcript": "NM_001385207.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1179,
"aa_ref": "P",
"aa_start": 1096,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4224,
"cdna_start": 3664,
"cds_end": null,
"cds_length": 3540,
"cds_start": 3286,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000907163.1",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3286C>A",
"hgvs_p": "p.Pro1096Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577222.1",
"strand": false,
"transcript": "ENST00000907163.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1173,
"aa_ref": "P",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4201,
"cdna_start": 3682,
"cds_end": null,
"cds_length": 3522,
"cds_start": 3268,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000699360.1",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3268C>A",
"hgvs_p": "p.Pro1090Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514331.1",
"strand": false,
"transcript": "ENST00000699360.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "P",
"aa_start": 1076,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4159,
"cdna_start": 3604,
"cds_end": null,
"cds_length": 3480,
"cds_start": 3226,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001385202.1",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3226C>A",
"hgvs_p": "p.Pro1076Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372131.1",
"strand": false,
"transcript": "NM_001385202.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1157,
"aa_ref": "P",
"aa_start": 1074,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4153,
"cdna_start": 3598,
"cds_end": null,
"cds_length": 3474,
"cds_start": 3220,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001385205.1",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3220C>A",
"hgvs_p": "p.Pro1074Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372134.1",
"strand": false,
"transcript": "NM_001385205.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "P",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4132,
"cdna_start": 3688,
"cds_end": null,
"cds_length": 3453,
"cds_start": 3310,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001385197.1",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Pro1104Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372126.1",
"strand": false,
"transcript": "NM_001385197.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "P",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4168,
"cdna_start": 3724,
"cds_end": null,
"cds_length": 3453,
"cds_start": 3310,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000525976.6",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Pro1104Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434831.2",
"strand": false,
"transcript": "ENST00000525976.6",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1145,
"aa_ref": "P",
"aa_start": 1062,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4117,
"cdna_start": 3562,
"cds_end": null,
"cds_length": 3438,
"cds_start": 3184,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001385206.1",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3184C>A",
"hgvs_p": "p.Pro1062Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372135.1",
"strand": false,
"transcript": "NM_001385206.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "P",
"aa_start": 1042,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3967,
"cdna_start": 3412,
"cds_end": null,
"cds_length": 3378,
"cds_start": 3124,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001385199.1",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3124C>A",
"hgvs_p": "p.Pro1042Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372128.1",
"strand": false,
"transcript": "NM_001385199.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1121,
"aa_ref": "P",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4045,
"cdna_start": 3490,
"cds_end": null,
"cds_length": 3366,
"cds_start": 3112,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001385201.1",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3112C>A",
"hgvs_p": "p.Pro1038Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372130.1",
"strand": false,
"transcript": "NM_001385201.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1108,
"aa_ref": "P",
"aa_start": 1062,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4039,
"cdna_start": 3590,
"cds_end": null,
"cds_length": 3327,
"cds_start": 3184,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000907161.1",
"gene_hgnc_id": 12440,
"gene_symbol": "TYK2",
"hgvs_c": "c.3184C>A",
"hgvs_p": "p.Pro1062Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577220.1",
"strand": false,
"transcript": "ENST00000907161.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1076,
"aa_ref": "P",
"aa_start": 993,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3875,
"cdna_start": 3320,
"cds_end": null,
"cds_length": 3231,
"cds_start": 2977,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000955978.1",
"gene_hgnc_id": 12440,
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