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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: 11-18544782-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=18544782&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UEVLD",
"hgnc_id": 30866,
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Tyr301His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001040697.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2074,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4483169615268707,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 471,
"aa_ref": "Y",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4207,
"cdna_start": 981,
"cds_end": null,
"cds_length": 1416,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001040697.4",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Tyr301His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396197.8",
"protein_coding": true,
"protein_id": "NP_001035787.1",
"strand": false,
"transcript": "NM_001040697.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 471,
"aa_ref": "Y",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4207,
"cdna_start": 981,
"cds_end": null,
"cds_length": 1416,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000396197.8",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Tyr301His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001040697.4",
"protein_coding": true,
"protein_id": "ENSP00000379500.2",
"strand": false,
"transcript": "ENST00000396197.8",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 379,
"aa_ref": "Y",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2503,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1140,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000543987.5",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Tyr301His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442974.1",
"strand": false,
"transcript": "ENST00000543987.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 357,
"aa_ref": "Y",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 867,
"cds_end": null,
"cds_length": 1074,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000320750.10",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.835T>C",
"hgvs_p": "p.Tyr279His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000323353.6",
"strand": false,
"transcript": "ENST00000320750.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 510,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1018,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000966334.1",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.1018T>C",
"hgvs_p": "p.Tyr340His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636393.1",
"strand": false,
"transcript": "ENST00000966334.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 469,
"aa_ref": "Y",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3045,
"cdna_start": 937,
"cds_end": null,
"cds_length": 1410,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000854036.1",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.895T>C",
"hgvs_p": "p.Tyr299His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524095.1",
"strand": false,
"transcript": "ENST00000854036.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 466,
"aa_ref": "Y",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4119,
"cdna_start": 900,
"cds_end": null,
"cds_length": 1401,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000966333.1",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.886T>C",
"hgvs_p": "p.Tyr296His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636392.1",
"strand": false,
"transcript": "ENST00000966333.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 449,
"aa_ref": "Y",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4141,
"cdna_start": 915,
"cds_end": null,
"cds_length": 1350,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001261382.3",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.835T>C",
"hgvs_p": "p.Tyr279His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248311.1",
"strand": false,
"transcript": "NM_001261382.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 449,
"aa_ref": "Y",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1848,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1350,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000379387.8",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.835T>C",
"hgvs_p": "p.Tyr279His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368697.4",
"strand": false,
"transcript": "ENST00000379387.8",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 449,
"aa_ref": "Y",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2827,
"cdna_start": 964,
"cds_end": null,
"cds_length": 1350,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000966335.1",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Tyr301His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636394.1",
"strand": false,
"transcript": "ENST00000966335.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 428,
"aa_ref": "Y",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1944,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1287,
"cds_start": 772,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000854039.1",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.772T>C",
"hgvs_p": "p.Tyr258His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524098.1",
"strand": false,
"transcript": "ENST00000854039.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 414,
"aa_ref": "Y",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1245,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000854035.1",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Tyr244His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524094.1",
"strand": false,
"transcript": "ENST00000854035.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 392,
"aa_ref": "Y",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3957,
"cdna_start": 729,
"cds_end": null,
"cds_length": 1179,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000966332.1",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.664T>C",
"hgvs_p": "p.Tyr222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636391.1",
"strand": false,
"transcript": "ENST00000966332.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 386,
"aa_ref": "Y",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2586,
"cdna_start": 658,
"cds_end": null,
"cds_length": 1161,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854038.1",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.646T>C",
"hgvs_p": "p.Tyr216His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524097.1",
"strand": false,
"transcript": "ENST00000854038.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 379,
"aa_ref": "Y",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4083,
"cdna_start": 981,
"cds_end": null,
"cds_length": 1140,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_018314.6",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Tyr301His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060784.3",
"strand": false,
"transcript": "NM_018314.6",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 371,
"aa_ref": "Y",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2736,
"cdna_start": 628,
"cds_end": null,
"cds_length": 1116,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854037.1",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Tyr201His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524096.1",
"strand": false,
"transcript": "ENST00000854037.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 366,
"aa_ref": "Y",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3872,
"cdna_start": 646,
"cds_end": null,
"cds_length": 1101,
"cds_start": 586,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854034.1",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.586T>C",
"hgvs_p": "p.Tyr196His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524093.1",
"strand": false,
"transcript": "ENST00000854034.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 357,
"aa_ref": "Y",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4017,
"cdna_start": 915,
"cds_end": null,
"cds_length": 1074,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001261383.3",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.835T>C",
"hgvs_p": "p.Tyr279His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248312.1",
"strand": false,
"transcript": "NM_001261383.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 341,
"aa_ref": "Y",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3958,
"cdna_start": 732,
"cds_end": null,
"cds_length": 1026,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001261384.3",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.511T>C",
"hgvs_p": "p.Tyr171His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248313.1",
"strand": false,
"transcript": "NM_001261384.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 341,
"aa_ref": "Y",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4052,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1026,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001261385.3",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.787T>C",
"hgvs_p": "p.Tyr263His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248314.1",
"strand": false,
"transcript": "NM_001261385.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 341,
"aa_ref": "Y",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1026,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000535484.5",
"gene_hgnc_id": 30866,
"gene_symbol": "UEVLD",
"hgvs_c": "c.787T>C",
"hgvs_p": "p.Tyr263His",
"intron_rank": null,
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}