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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: 7-149847902-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=149847902&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF862",
"hgnc_id": 34519,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Trp",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001099220.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 21,
"alphamissense_prediction": null,
"alphamissense_score": 0.455,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "7",
"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": 0.24348106980323792,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1169,
"aa_ref": "R",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6942,
"cdna_start": 646,
"cds_end": null,
"cds_length": 3510,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001099220.3",
"gene_hgnc_id": 34519,
"gene_symbol": "ZNF862",
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000223210.5",
"protein_coding": true,
"protein_id": "NP_001092690.1",
"strand": true,
"transcript": "NM_001099220.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1169,
"aa_ref": "R",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6942,
"cdna_start": 646,
"cds_end": null,
"cds_length": 3510,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000223210.5",
"gene_hgnc_id": 34519,
"gene_symbol": "ZNF862",
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001099220.3",
"protein_coding": true,
"protein_id": "ENSP00000223210.4",
"strand": true,
"transcript": "ENST00000223210.5",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 92,
"aa_ref": "R",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 594,
"cdna_start": 472,
"cds_end": null,
"cds_length": 279,
"cds_start": 157,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000460379.1",
"gene_hgnc_id": 34519,
"gene_symbol": "ZNF862",
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417450.1",
"strand": true,
"transcript": "ENST00000460379.1",
"transcript_support_level": 4
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1183,
"aa_ref": "R",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6917,
"cdna_start": 621,
"cds_end": null,
"cds_length": 3552,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_006716085.4",
"gene_hgnc_id": 34519,
"gene_symbol": "ZNF862",
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716148.1",
"strand": true,
"transcript": "XM_006716085.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1183,
"aa_ref": "R",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7778,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 3552,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011516463.1",
"gene_hgnc_id": 34519,
"gene_symbol": "ZNF862",
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514765.1",
"strand": true,
"transcript": "XM_011516463.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1176,
"aa_ref": "R",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12201,
"cdna_start": 5905,
"cds_end": null,
"cds_length": 3531,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011516464.2",
"gene_hgnc_id": 34519,
"gene_symbol": "ZNF862",
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Arg144Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514766.1",
"strand": true,
"transcript": "XM_011516464.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8914,
"cdna_start": 2618,
"cds_end": null,
"cds_length": 3489,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017012519.2",
"gene_hgnc_id": 34519,
"gene_symbol": "ZNF862",
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868008.1",
"strand": true,
"transcript": "XM_017012519.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1085,
"aa_ref": "R",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6768,
"cdna_start": 472,
"cds_end": null,
"cds_length": 3258,
"cds_start": 157,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_024446866.1",
"gene_hgnc_id": 34519,
"gene_symbol": "ZNF862",
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024302634.1",
"strand": true,
"transcript": "XM_024446866.1",
"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": 1033,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000488265.1",
"gene_hgnc_id": 34519,
"gene_symbol": "ZNF862",
"hgvs_c": "n.-225C>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": "ENST00000488265.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs573806805",
"effect": "missense_variant",
"frequency_reference_population": 0.000013067503,
"gene_hgnc_id": 34519,
"gene_symbol": "ZNF862",
"gnomad_exomes_ac": 17,
"gnomad_exomes_af": 0.0000116853,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000262784,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.896,
"pos": 149847902,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.144,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001099220.3"
}
]
}