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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: 14-99715894-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=99715894&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYP46A1",
"hgnc_id": 2641,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Cys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_006668.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 25,
"alphamissense_prediction": null,
"alphamissense_score": 0.1541,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4761807322502136,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 898,
"cds_end": null,
"cds_length": 1503,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_006668.2",
"gene_hgnc_id": 2641,
"gene_symbol": "CYP46A1",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261835.8",
"protein_coding": true,
"protein_id": "NP_006659.1",
"strand": true,
"transcript": "NM_006668.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 898,
"cds_end": null,
"cds_length": 1503,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000261835.8",
"gene_hgnc_id": 2641,
"gene_symbol": "CYP46A1",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006668.2",
"protein_coding": true,
"protein_id": "ENSP00000261835.3",
"strand": true,
"transcript": "ENST00000261835.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 583,
"aa_ref": "R",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2401,
"cdna_start": 855,
"cds_end": null,
"cds_length": 1752,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000900096.1",
"gene_hgnc_id": 2641,
"gene_symbol": "CYP46A1",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570155.1",
"strand": true,
"transcript": "ENST00000900096.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 490,
"aa_ref": "R",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2232,
"cdna_start": 946,
"cds_end": null,
"cds_length": 1473,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000900093.1",
"gene_hgnc_id": 2641,
"gene_symbol": "CYP46A1",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570152.1",
"strand": true,
"transcript": "ENST00000900093.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1392,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900095.1",
"gene_hgnc_id": 2641,
"gene_symbol": "CYP46A1",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Arg223Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570154.1",
"strand": true,
"transcript": "ENST00000900095.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1392,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000941881.1",
"gene_hgnc_id": 2641,
"gene_symbol": "CYP46A1",
"hgvs_c": "c.697C>T",
"hgvs_p": "p.Arg233Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611940.1",
"strand": true,
"transcript": "ENST00000941881.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": 661,
"cds_end": null,
"cds_length": 1266,
"cds_start": 541,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900094.1",
"gene_hgnc_id": 2641,
"gene_symbol": "CYP46A1",
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Arg181Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570153.1",
"strand": true,
"transcript": "ENST00000900094.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 411,
"aa_ref": "R",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1881,
"cdna_start": 612,
"cds_end": null,
"cds_length": 1236,
"cds_start": 541,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900097.1",
"gene_hgnc_id": 2641,
"gene_symbol": "CYP46A1",
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Arg181Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570156.1",
"strand": true,
"transcript": "ENST00000900097.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 403,
"aa_ref": "R",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1597,
"cdna_start": 737,
"cds_end": null,
"cds_length": 1212,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000380228.6",
"gene_hgnc_id": 2641,
"gene_symbol": "CYP46A1",
"hgvs_c": "c.487C>T",
"hgvs_p": "p.Arg163Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369577.3",
"strand": true,
"transcript": "ENST00000380228.6",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 682,
"cdna_start": 37,
"cds_end": null,
"cds_length": 495,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000556313.1",
"gene_hgnc_id": 2641,
"gene_symbol": "CYP46A1",
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451602.1",
"strand": true,
"transcript": "ENST00000556313.1",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 490,
"aa_ref": "R",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2167,
"cdna_start": 898,
"cds_end": null,
"cds_length": 1473,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011536364.2",
"gene_hgnc_id": 2641,
"gene_symbol": "CYP46A1",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534666.1",
"strand": true,
"transcript": "XM_011536364.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 462,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2240,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1389,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017020933.3",
"gene_hgnc_id": 2641,
"gene_symbol": "CYP46A1",
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Arg222Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876422.1",
"strand": true,
"transcript": "XM_017020933.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 355,
"aa_ref": "R",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1741,
"cdna_start": 442,
"cds_end": null,
"cds_length": 1068,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005267274.6",
"gene_hgnc_id": 2641,
"gene_symbol": "CYP46A1",
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005267331.1",
"strand": true,
"transcript": "XM_005267274.6",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 1044,
"cds_start": 319,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011536365.3",
"gene_hgnc_id": 2641,
"gene_symbol": "CYP46A1",
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Arg107Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534667.1",
"strand": true,
"transcript": "XM_011536365.3",
"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": 2253,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000554176.5",
"gene_hgnc_id": 2641,
"gene_symbol": "CYP46A1",
"hgvs_c": "n.985C>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": "ENST00000554176.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 622,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000554917.5",
"gene_hgnc_id": 2641,
"gene_symbol": "CYP46A1",
"hgvs_c": "n.83C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000452151.1",
"strand": true,
"transcript": "ENST00000554917.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs764924761",
"effect": "missense_variant",
"frequency_reference_population": 0.000015493019,
"gene_hgnc_id": 2641,
"gene_symbol": "CYP46A1",
"gnomad_exomes_ac": 20,
"gnomad_exomes_af": 0.0000136832,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 5,
"gnomad_genomes_af": 0.0000328991,
"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": 1.439,
"pos": 99715894,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.411,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_006668.2"
}
]
}