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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: 11-118099072-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118099072&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"PP3_Moderate",
"BP6_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMPRSS4",
"hgnc_id": 11878,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Ala44Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -6,
"transcript": "NM_019894.4",
"verdict": "Likely_benign"
},
{
"benign_score": 8,
"criteria": [
"PP3_Moderate",
"BP6_Very_Strong"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "LOC105369517",
"hgnc_id": null,
"hgvs_c": "n.-94G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -6,
"transcript": "XR_007062901.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BP6_Very_Strong",
"acmg_score": -6,
"allele_count_reference_population": 782,
"alphamissense_prediction": null,
"alphamissense_score": 0.092,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "11",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.02609577775001526,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 437,
"aa_ref": "A",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5516,
"cdna_start": 356,
"cds_end": null,
"cds_length": 1314,
"cds_start": 131,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_019894.4",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Ala44Val",
"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": "V",
"aa_end": null,
"aa_length": 437,
"aa_ref": "A",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5516,
"cdna_start": 356,
"cds_end": null,
"cds_length": 1314,
"cds_start": 131,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000437212.8",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Ala44Val",
"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": "V",
"aa_end": null,
"aa_length": 432,
"aa_ref": "A",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 340,
"cds_end": null,
"cds_length": 1299,
"cds_start": 131,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000522824.5",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Ala44Val",
"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": 3,
"exon_rank_end": null,
"feature": "ENST00000714375.1",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "n.131C>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": 3,
"exon_rank_end": null,
"feature": "ENST00000714378.1",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "n.131C>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": "V",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 361,
"cds_end": null,
"cds_length": 1347,
"cds_start": 131,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000951076.1",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Ala44Val",
"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": "V",
"aa_end": null,
"aa_length": 446,
"aa_ref": "A",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2796,
"cdna_start": 335,
"cds_end": null,
"cds_length": 1341,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896311.1",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Ala42Val",
"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": "V",
"aa_end": null,
"aa_length": 435,
"aa_ref": "A",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5510,
"cdna_start": 350,
"cds_end": null,
"cds_length": 1308,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001173551.2",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Ala42Val",
"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": "V",
"aa_end": null,
"aa_length": 435,
"aa_ref": "A",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5550,
"cdna_start": 390,
"cds_end": null,
"cds_length": 1308,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000534111.5",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Ala42Val",
"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": "V",
"aa_end": null,
"aa_length": 433,
"aa_ref": "A",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2075,
"cdna_start": 354,
"cds_end": null,
"cds_length": 1302,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896313.1",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Ala42Val",
"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": "V",
"aa_end": null,
"aa_length": 432,
"aa_ref": "A",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5501,
"cdna_start": 356,
"cds_end": null,
"cds_length": 1299,
"cds_start": 131,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001083947.2",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Ala44Val",
"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": "V",
"aa_end": null,
"aa_length": 412,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5520,
"cdna_start": 360,
"cds_end": null,
"cds_length": 1239,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001290094.2",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"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": "V",
"aa_end": null,
"aa_length": 402,
"aa_ref": "A",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1977,
"cdna_start": 353,
"cds_end": null,
"cds_length": 1209,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896314.1",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Ala42Val",
"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": "V",
"aa_end": null,
"aa_length": 397,
"aa_ref": "A",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 407,
"cds_end": null,
"cds_length": 1194,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896312.1",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Ala42Val",
"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": "V",
"aa_end": null,
"aa_length": 384,
"aa_ref": "A",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": 298,
"cds_end": null,
"cds_length": 1155,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000522151.6",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Ala42Val",
"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": "V",
"aa_end": null,
"aa_length": 179,
"aa_ref": "A",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1172,
"cdna_start": 413,
"cds_end": null,
"cds_length": 540,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000517544.2",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Ala42Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429833.2",
"strand": true,
"transcript": "ENST00000517544.2",
"transcript_support_level": 3
},
{
"aa_alt": "V",
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"aa_length": 494,
"aa_ref": "A",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 356,
"cds_end": null,
"cds_length": 1485,
"cds_start": 131,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005271613.5",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Ala44Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005271670.1",
"strand": true,
"transcript": "XM_005271613.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 492,
"aa_ref": "A",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1732,
"cdna_start": 350,
"cds_end": null,
"cds_length": 1479,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005271614.4",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Ala42Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005271671.1",
"strand": true,
"transcript": "XM_005271614.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 489,
"aa_ref": "A",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": 356,
"cds_end": null,
"cds_length": 1470,
"cds_start": 131,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011542901.3",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Ala44Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541203.1",
"strand": true,
"transcript": "XM_011542901.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 487,
"aa_ref": "A",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 350,
"cds_end": null,
"cds_length": 1464,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047427259.1",
"gene_hgnc_id": 11878,
"gene_symbol": "TMPRSS4",
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Ala42Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283215.1",
"strand": true,
"transcript": "XM_047427259.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 430,
"aa_ref": "A",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5495,
"cdna_start": 350,
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