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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: 11-118113399-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118113399&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMPRSS4",
"hgnc_id": 11878,
"hgvs_c": "c.874G>T",
"hgvs_p": "p.Ala292Ser",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_019894.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.2595,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9787269830703735,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "A",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5516,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1314,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_019894.4",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.874G>T",
"hgvs_p": "p.Ala292Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000437212.8",
"protein_coding": true,
"protein_id": "NP_063947.2",
"strand": true,
"transcript": "NM_019894.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "A",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5516,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1314,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000437212.8",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.874G>T",
"hgvs_p": "p.Ala292Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019894.4",
"protein_coding": true,
"protein_id": "ENSP00000416037.3",
"strand": true,
"transcript": "ENST00000437212.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "A",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 1299,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000522824.5",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Ala287Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430547.1",
"strand": true,
"transcript": "ENST00000522824.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 1600,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000714375.1",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "n.874G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519642.1",
"strand": true,
"transcript": "ENST00000714375.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2206,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000714378.1",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "n.874G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519645.1",
"strand": true,
"transcript": "ENST00000714378.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1347,
"cds_start": 907,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000951076.1",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.907G>T",
"hgvs_p": "p.Ala303Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621135.1",
"strand": true,
"transcript": "ENST00000951076.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 446,
"aa_ref": "A",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2796,
"cdna_start": 1111,
"cds_end": null,
"cds_length": 1341,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000896311.1",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.901G>T",
"hgvs_p": "p.Ala301Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566370.1",
"strand": true,
"transcript": "ENST00000896311.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 435,
"aa_ref": "A",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5510,
"cdna_start": 1093,
"cds_end": null,
"cds_length": 1308,
"cds_start": 868,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001173551.2",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.868G>T",
"hgvs_p": "p.Ala290Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001167022.2",
"strand": true,
"transcript": "NM_001173551.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 435,
"aa_ref": "A",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5550,
"cdna_start": 1133,
"cds_end": null,
"cds_length": 1308,
"cds_start": 868,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000534111.5",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.868G>T",
"hgvs_p": "p.Ala290Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435184.1",
"strand": true,
"transcript": "ENST00000534111.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 433,
"aa_ref": "A",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2075,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 1302,
"cds_start": 868,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000896313.1",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.868G>T",
"hgvs_p": "p.Ala290Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566372.1",
"strand": true,
"transcript": "ENST00000896313.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "A",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5501,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1299,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001083947.2",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Ala287Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001077416.2",
"strand": true,
"transcript": "NM_001083947.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 412,
"aa_ref": "A",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5520,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 1239,
"cds_start": 799,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001290094.2",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.799G>T",
"hgvs_p": "p.Ala267Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277023.2",
"strand": true,
"transcript": "NM_001290094.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 402,
"aa_ref": "A",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1977,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1209,
"cds_start": 868,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000896314.1",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.868G>T",
"hgvs_p": "p.Ala290Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566373.1",
"strand": true,
"transcript": "ENST00000896314.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 399,
"aa_ref": "A",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3417,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 1200,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000616579.4",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Ala254Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478147.1",
"strand": true,
"transcript": "ENST00000616579.4",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 397,
"aa_ref": "A",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5396,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1194,
"cds_start": 754,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001173552.2",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.754G>T",
"hgvs_p": "p.Ala252Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001167023.2",
"strand": true,
"transcript": "NM_001173552.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 397,
"aa_ref": "A",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1194,
"cds_start": 754,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000523251.5",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.754G>T",
"hgvs_p": "p.Ala252Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429209.1",
"strand": true,
"transcript": "ENST00000523251.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 397,
"aa_ref": "A",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 1194,
"cds_start": 868,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000896312.1",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.868G>T",
"hgvs_p": "p.Ala290Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566371.1",
"strand": true,
"transcript": "ENST00000896312.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 384,
"aa_ref": "A",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": 888,
"cds_end": null,
"cds_length": 1155,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000522151.6",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.715G>T",
"hgvs_p": "p.Ala239Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428407.2",
"strand": true,
"transcript": "ENST00000522151.6",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 290,
"aa_ref": "A",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5431,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 873,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001290096.2",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.433G>T",
"hgvs_p": "p.Ala145Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277025.2",
"strand": true,
"transcript": "NM_001290096.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 290,
"aa_ref": "A",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 873,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000522307.5",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.433G>T",
"hgvs_p": "p.Ala145Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428814.1",
"strand": true,
"transcript": "ENST00000522307.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 61,
"aa_ref": "A",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 725,
"cdna_start": 108,
"cds_end": null,
"cds_length": 186,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000524218.1",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Ala36Ser",
"intron_rank": null,
"intron_rank_end": null,
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