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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: 15-74837386-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=74837386&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ULK3",
"hgnc_id": 19703,
"hgvs_c": "c.1418C>T",
"hgvs_p": "p.Ser473Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001411082.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 47,
"alphamissense_prediction": null,
"alphamissense_score": 0.0809,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.06348013877868652,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 472,
"aa_ref": "S",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2580,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1385,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001099436.4",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1385C>T",
"hgvs_p": "p.Ser462Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000440863.7",
"protein_coding": true,
"protein_id": "NP_001092906.3",
"strand": false,
"transcript": "NM_001099436.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 472,
"aa_ref": "S",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2580,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1385,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000440863.7",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1385C>T",
"hgvs_p": "p.Ser462Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001099436.4",
"protein_coding": true,
"protein_id": "ENSP00000400312.2",
"strand": false,
"transcript": "ENST00000440863.7",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 470,
"aa_ref": "S",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2611,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1379,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000569437.5",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Ser460Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456051.1",
"strand": false,
"transcript": "ENST00000569437.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000566479.5",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "n.1571C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000566479.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2951,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000570276.5",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "n.1807C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000570276.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 483,
"aa_ref": "S",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3045,
"cdna_start": 1901,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001411082.1",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1418C>T",
"hgvs_p": "p.Ser473Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398011.1",
"strand": false,
"transcript": "NM_001411082.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 483,
"aa_ref": "S",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1470,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000568667.5",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1418C>T",
"hgvs_p": "p.Ser473Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457853.1",
"strand": false,
"transcript": "ENST00000568667.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 478,
"aa_ref": "S",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2589,
"cdna_start": 1445,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1403,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000894355.1",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1403C>T",
"hgvs_p": "p.Ser468Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564414.1",
"strand": false,
"transcript": "ENST00000894355.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 478,
"aa_ref": "S",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1403,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000894356.1",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1403C>T",
"hgvs_p": "p.Ser468Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564415.1",
"strand": false,
"transcript": "ENST00000894356.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 478,
"aa_ref": "S",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2620,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1403,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967230.1",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1403C>T",
"hgvs_p": "p.Ser468Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637289.1",
"strand": false,
"transcript": "ENST00000967230.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 477,
"aa_ref": "S",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 1434,
"cds_start": 1400,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000894360.1",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1400C>T",
"hgvs_p": "p.Ser467Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564419.1",
"strand": false,
"transcript": "ENST00000894360.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 476,
"aa_ref": "S",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000894358.1",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1397C>T",
"hgvs_p": "p.Ser466Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564417.1",
"strand": false,
"transcript": "ENST00000894358.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 476,
"aa_ref": "S",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2589,
"cdna_start": 1447,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967232.1",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1397C>T",
"hgvs_p": "p.Ser466Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637291.1",
"strand": false,
"transcript": "ENST00000967232.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 471,
"aa_ref": "S",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2592,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000894350.1",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Ser461Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564409.1",
"strand": false,
"transcript": "ENST00000894350.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 471,
"aa_ref": "S",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2587,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000894351.1",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Ser461Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564410.1",
"strand": false,
"transcript": "ENST00000894351.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 471,
"aa_ref": "S",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2604,
"cdna_start": 1460,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000926382.1",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Ser461Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596441.1",
"strand": false,
"transcript": "ENST00000926382.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 470,
"aa_ref": "S",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1379,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001284364.3",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Ser460Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271293.2",
"strand": false,
"transcript": "NM_001284364.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 470,
"aa_ref": "S",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2568,
"cdna_start": 1424,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1379,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000926383.1",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Ser460Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596442.1",
"strand": false,
"transcript": "ENST00000926383.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 469,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1376,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000894348.1",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1376C>T",
"hgvs_p": "p.Ser459Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564407.1",
"strand": false,
"transcript": "ENST00000894348.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 469,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2565,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1376,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000894353.1",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1376C>T",
"hgvs_p": "p.Ser459Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564412.1",
"strand": false,
"transcript": "ENST00000894353.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 469,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2573,
"cdna_start": 1427,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1376,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967231.1",
"gene_hgnc_id": 19703,
"gene_symbol": "ULK3",
"hgvs_c": "c.1376C>T",
"hgvs_p": "p.Ser459Leu",
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