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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: 17-41727097-CGT-GCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=41727097&ref=CGT&alt=GCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "HAP1",
"hgnc_id": 4812,
"hgvs_c": "c.1417_1419delACGinsCGC",
"hgvs_p": "p.Thr473Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001367459.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 619,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3930,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_177977.3",
"gene_hgnc_id": 4812,
"gene_symbol": "HAP1",
"hgvs_c": "c.1321_1323delACGinsCGC",
"hgvs_p": "p.Thr441Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000347901.9",
"protein_coding": true,
"protein_id": "NP_817084.2",
"strand": false,
"transcript": "NM_177977.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 619,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3930,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000347901.9",
"gene_hgnc_id": 4812,
"gene_symbol": "HAP1",
"hgvs_c": "c.1321_1323delACGinsCGC",
"hgvs_p": "p.Thr441Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_177977.3",
"protein_coding": true,
"protein_id": "ENSP00000334002.4",
"strand": false,
"transcript": "ENST00000347901.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 671,
"aa_ref": "T",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4087,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000310778.5",
"gene_hgnc_id": 4812,
"gene_symbol": "HAP1",
"hgvs_c": "c.1477_1479delACGinsCGC",
"hgvs_p": "p.Thr493Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000309392.5",
"strand": false,
"transcript": "ENST00000310778.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "T",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5683,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393939.6",
"gene_hgnc_id": 4812,
"gene_symbol": "HAP1",
"hgvs_c": "c.1246_1248delACGinsCGC",
"hgvs_p": "p.Thr416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377513.2",
"strand": false,
"transcript": "ENST00000393939.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 664,
"aa_ref": "T",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4065,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1456,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885828.1",
"gene_hgnc_id": 4812,
"gene_symbol": "HAP1",
"hgvs_c": "c.1456_1458delACGinsCGC",
"hgvs_p": "p.Thr486Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555887.1",
"strand": false,
"transcript": "ENST00000885828.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 636,
"aa_ref": "T",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2188,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 1911,
"cds_start": 1417,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001367459.1",
"gene_hgnc_id": 4812,
"gene_symbol": "HAP1",
"hgvs_c": "c.1417_1419delACGinsCGC",
"hgvs_p": "p.Thr473Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354388.1",
"strand": false,
"transcript": "NM_001367459.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 624,
"aa_ref": "T",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2152,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 1875,
"cds_start": 1381,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001367460.1",
"gene_hgnc_id": 4812,
"gene_symbol": "HAP1",
"hgvs_c": "c.1381_1383delACGinsCGC",
"hgvs_p": "p.Thr461Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354389.1",
"strand": false,
"transcript": "NM_001367460.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 602,
"aa_ref": "T",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3883,
"cdna_start": 1284,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001079870.1",
"gene_hgnc_id": 4812,
"gene_symbol": "HAP1",
"hgvs_c": "c.1270_1272delACGinsCGC",
"hgvs_p": "p.Thr424Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073339.1",
"strand": false,
"transcript": "NM_001079870.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 602,
"aa_ref": "T",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3880,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000341193.9",
"gene_hgnc_id": 4812,
"gene_symbol": "HAP1",
"hgvs_c": "c.1270_1272delACGinsCGC",
"hgvs_p": "p.Thr424Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343170.5",
"strand": false,
"transcript": "ENST00000341193.9",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "T",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3859,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001079871.1",
"gene_hgnc_id": 4812,
"gene_symbol": "HAP1",
"hgvs_c": "c.1246_1248delACGinsCGC",
"hgvs_p": "p.Thr416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073340.1",
"strand": false,
"transcript": "NM_001079871.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 579,
"aa_ref": "T",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 1740,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001367461.1",
"gene_hgnc_id": 4812,
"gene_symbol": "HAP1",
"hgvs_c": "c.1246_1248delACGinsCGC",
"hgvs_p": "p.Thr416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354390.1",
"strand": false,
"transcript": "NM_001367461.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 470,
"aa_ref": "T",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1628,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001367462.1",
"gene_hgnc_id": 4812,
"gene_symbol": "HAP1",
"hgvs_c": "c.1246_1248delACGinsCGC",
"hgvs_p": "p.Thr416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354391.1",
"strand": false,
"transcript": "NM_001367462.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 4812,
"gene_symbol": "HAP1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.691,
"pos": 41727097,
"ref": "CGT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001367459.1"
}
]
}