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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: 16-88485962-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=88485962&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ZFPM1",
"hgnc_id": 19762,
"hgvs_c": "c.64A>T",
"hgvs_p": "p.Arg22*",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_153813.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.04,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": -0.03999999910593033,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5432,
"cdna_start": 423,
"cds_end": null,
"cds_length": 3021,
"cds_start": 64,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_153813.3",
"gene_hgnc_id": 19762,
"gene_symbol": "ZFPM1",
"hgvs_c": "c.64A>T",
"hgvs_p": "p.Arg22*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000319555.8",
"protein_coding": true,
"protein_id": "NP_722520.2",
"strand": true,
"transcript": "NM_153813.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5432,
"cdna_start": 423,
"cds_end": null,
"cds_length": 3021,
"cds_start": 64,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000319555.8",
"gene_hgnc_id": 19762,
"gene_symbol": "ZFPM1",
"hgvs_c": "c.64A>T",
"hgvs_p": "p.Arg22*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_153813.3",
"protein_coding": true,
"protein_id": "ENSP00000326630.2",
"strand": true,
"transcript": "ENST00000319555.8",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 158,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 563,
"cdna_start": 78,
"cds_end": null,
"cds_length": 477,
"cds_start": 64,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000569086.5",
"gene_hgnc_id": 19762,
"gene_symbol": "ZFPM1",
"hgvs_c": "c.64A>T",
"hgvs_p": "p.Arg22*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482796.1",
"strand": true,
"transcript": "ENST00000569086.5",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 151,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 502,
"cdna_start": 76,
"cds_end": null,
"cds_length": 456,
"cds_start": 64,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000562437.2",
"gene_hgnc_id": 19762,
"gene_symbol": "ZFPM1",
"hgvs_c": "c.64A>T",
"hgvs_p": "p.Arg22*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480412.1",
"strand": true,
"transcript": "ENST00000562437.2",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 117,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 808,
"cdna_start": 76,
"cds_end": null,
"cds_length": 354,
"cds_start": 64,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000563351.5",
"gene_hgnc_id": 19762,
"gene_symbol": "ZFPM1",
"hgvs_c": "c.64A>T",
"hgvs_p": "p.Arg22*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484216.1",
"strand": true,
"transcript": "ENST00000563351.5",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1052,
"aa_ref": "R",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8955,
"cdna_start": 3946,
"cds_end": null,
"cds_length": 3159,
"cds_start": 202,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011522912.3",
"gene_hgnc_id": 19762,
"gene_symbol": "ZFPM1",
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Arg68*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521214.1",
"strand": true,
"transcript": "XM_011522912.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1039,
"aa_ref": "R",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5203,
"cdna_start": 194,
"cds_end": null,
"cds_length": 3120,
"cds_start": 163,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011522914.3",
"gene_hgnc_id": 19762,
"gene_symbol": "ZFPM1",
"hgvs_c": "c.163A>T",
"hgvs_p": "p.Arg55*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521216.1",
"strand": true,
"transcript": "XM_011522914.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 977,
"aa_ref": "P",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5069,
"cdna_start": 194,
"cds_end": null,
"cds_length": 2934,
"cds_start": 111,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047433667.1",
"gene_hgnc_id": 19762,
"gene_symbol": "ZFPM1",
"hgvs_c": "c.111A>T",
"hgvs_p": "p.Pro37Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289623.1",
"strand": true,
"transcript": "XM_047433667.1",
"transcript_support_level": null
},
{
"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": 497,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000562417.1",
"gene_hgnc_id": 19762,
"gene_symbol": "ZFPM1",
"hgvs_c": "n.97A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000562417.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs3751673",
"effect": "stop_gained",
"frequency_reference_population": null,
"gene_hgnc_id": 19762,
"gene_symbol": "ZFPM1",
"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": -1.008,
"pos": 88485962,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_153813.3"
}
]
}