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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: 6-33267978-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33267978&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33267978,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000445902.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS52",
"gene_hgnc_id": 10518,
"hgvs_c": "c.820C>G",
"hgvs_p": "p.Leu274Val",
"transcript": "NM_022553.6",
"protein_id": "NP_072047.4",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 723,
"cds_start": 820,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 2936,
"mane_select": "ENST00000445902.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS52",
"gene_hgnc_id": 10518,
"hgvs_c": "c.820C>G",
"hgvs_p": "p.Leu274Val",
"transcript": "ENST00000445902.3",
"protein_id": "ENSP00000409952.2",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 723,
"cds_start": 820,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 2936,
"mane_select": "NM_022553.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS52",
"gene_hgnc_id": 10518,
"hgvs_c": "c.619C>G",
"hgvs_p": "p.Leu207Val",
"transcript": "NM_001289174.2",
"protein_id": "NP_001276103.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 656,
"cds_start": 619,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 3332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS52",
"gene_hgnc_id": 10518,
"hgvs_c": "c.445C>G",
"hgvs_p": "p.Leu149Val",
"transcript": "NM_001289175.1",
"protein_id": "NP_001276104.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 598,
"cds_start": 445,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS52",
"gene_hgnc_id": 10518,
"hgvs_c": "c.445C>G",
"hgvs_p": "p.Leu149Val",
"transcript": "NM_001289176.1",
"protein_id": "NP_001276105.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 534,
"cds_start": 445,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS52",
"gene_hgnc_id": 10518,
"hgvs_c": "c.619C>G",
"hgvs_p": "p.Leu207Val",
"transcript": "XM_011514797.2",
"protein_id": "XP_011513099.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 656,
"cds_start": 619,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS52",
"gene_hgnc_id": 10518,
"hgvs_c": "c.619C>G",
"hgvs_p": "p.Leu207Val",
"transcript": "XM_011514798.3",
"protein_id": "XP_011513100.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 656,
"cds_start": 619,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS52",
"gene_hgnc_id": 10518,
"hgvs_c": "c.619C>G",
"hgvs_p": "p.Leu207Val",
"transcript": "XM_011514799.2",
"protein_id": "XP_011513101.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 656,
"cds_start": 619,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS52",
"gene_hgnc_id": 10518,
"hgvs_c": "c.820C>G",
"hgvs_p": "p.Leu274Val",
"transcript": "XM_017011179.3",
"protein_id": "XP_016866668.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 396,
"cds_start": 820,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS52",
"gene_hgnc_id": 10518,
"hgvs_c": "n.817C>G",
"hgvs_p": null,
"transcript": "ENST00000463486.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS52",
"gene_hgnc_id": 10518,
"hgvs_c": "n.953C>G",
"hgvs_p": null,
"transcript": "ENST00000464425.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS52",
"gene_hgnc_id": 10518,
"hgvs_c": "n.873C>G",
"hgvs_p": null,
"transcript": "ENST00000478934.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS52",
"gene_hgnc_id": 10518,
"hgvs_c": "n.66C>G",
"hgvs_p": null,
"transcript": "ENST00000495755.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS52",
"gene_hgnc_id": 10518,
"hgvs_c": "c.*949C>G",
"hgvs_p": null,
"transcript": "ENST00000482399.5",
"protein_id": "ENSP00000436612.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 88,
"cds_start": -4,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VPS52",
"gene_hgnc_id": 10518,
"dbsnp": "rs213199",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7422711253166199,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.385,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1828,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.38,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000445902.3",
"gene_symbol": "VPS52",
"hgnc_id": 10518,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.820C>G",
"hgvs_p": "p.Leu274Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}