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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: X-47976348-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47976348&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 47976348,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006962.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF182",
"gene_hgnc_id": 13001,
"hgvs_c": "c.1682G>A",
"hgvs_p": "p.Arg561Gln",
"transcript": "NM_001007088.2",
"protein_id": "NP_001007089.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 620,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376943.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007088.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF182",
"gene_hgnc_id": 13001,
"hgvs_c": "c.1682G>A",
"hgvs_p": "p.Arg561Gln",
"transcript": "ENST00000376943.8",
"protein_id": "ENSP00000366142.4",
"transcript_support_level": 1,
"aa_start": 561,
"aa_end": null,
"aa_length": 620,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001007088.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376943.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF182",
"gene_hgnc_id": 13001,
"hgvs_c": "c.1739G>A",
"hgvs_p": "p.Arg580Gln",
"transcript": "NM_001178099.2",
"protein_id": "NP_001171570.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 639,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178099.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF182",
"gene_hgnc_id": 13001,
"hgvs_c": "c.1739G>A",
"hgvs_p": "p.Arg580Gln",
"transcript": "NM_006962.2",
"protein_id": "NP_008893.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 639,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006962.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF182",
"gene_hgnc_id": 13001,
"hgvs_c": "c.1739G>A",
"hgvs_p": "p.Arg580Gln",
"transcript": "ENST00000396965.5",
"protein_id": "ENSP00000380165.1",
"transcript_support_level": 2,
"aa_start": 580,
"aa_end": null,
"aa_length": 639,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396965.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF182",
"gene_hgnc_id": 13001,
"hgvs_c": "c.1682G>A",
"hgvs_p": "p.Arg561Gln",
"transcript": "ENST00000897864.1",
"protein_id": "ENSP00000567923.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 620,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897864.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF182",
"gene_hgnc_id": 13001,
"hgvs_c": "c.1682G>A",
"hgvs_p": "p.Arg561Gln",
"transcript": "ENST00000897865.1",
"protein_id": "ENSP00000567924.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 620,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897865.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF182",
"gene_hgnc_id": 13001,
"hgvs_c": "c.1682G>A",
"hgvs_p": "p.Arg561Gln",
"transcript": "ENST00000934376.1",
"protein_id": "ENSP00000604435.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 620,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934376.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF182",
"gene_hgnc_id": 13001,
"hgvs_c": "c.1682G>A",
"hgvs_p": "p.Arg561Gln",
"transcript": "ENST00000934377.1",
"protein_id": "ENSP00000604436.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 620,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934377.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF182",
"gene_hgnc_id": 13001,
"hgvs_c": "c.1682G>A",
"hgvs_p": "p.Arg561Gln",
"transcript": "ENST00000960814.1",
"protein_id": "ENSP00000630873.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 620,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960814.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF81",
"gene_hgnc_id": 13156,
"hgvs_c": "c.278-26180C>T",
"hgvs_p": null,
"transcript": "ENST00000376950.4",
"protein_id": "ENSP00000366149.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 102,
"cds_start": null,
"cds_end": null,
"cds_length": 311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376950.4"
}
],
"gene_symbol": "ZNF182",
"gene_hgnc_id": 13001,
"dbsnp": "rs782476080",
"frequency_reference_population": 0.000016453623,
"hom_count_reference_population": 4,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000164536,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12729081511497498,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
"alphamissense_score": 0.5574,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.589,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_006962.2",
"gene_symbol": "ZNF182",
"hgnc_id": 13001,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1739G>A",
"hgvs_p": "p.Arg580Gln"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000376950.4",
"gene_symbol": "ZNF81",
"hgnc_id": 13156,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown,XL",
"hgvs_c": "c.278-26180C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}