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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: 14-99726707-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=99726707&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 99726707,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006668.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP46A1",
"gene_hgnc_id": 2641,
"hgvs_c": "c.1483C>A",
"hgvs_p": "p.Pro495Thr",
"transcript": "NM_006668.2",
"protein_id": "NP_006659.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 500,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261835.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006668.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP46A1",
"gene_hgnc_id": 2641,
"hgvs_c": "c.1483C>A",
"hgvs_p": "p.Pro495Thr",
"transcript": "ENST00000261835.8",
"protein_id": "ENSP00000261835.3",
"transcript_support_level": 1,
"aa_start": 495,
"aa_end": null,
"aa_length": 500,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006668.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261835.8"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP46A1",
"gene_hgnc_id": 2641,
"hgvs_c": "c.1732C>A",
"hgvs_p": "p.Pro578Thr",
"transcript": "ENST00000900096.1",
"protein_id": "ENSP00000570155.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 583,
"cds_start": 1732,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900096.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP46A1",
"gene_hgnc_id": 2641,
"hgvs_c": "c.1453C>A",
"hgvs_p": "p.Pro485Thr",
"transcript": "ENST00000900093.1",
"protein_id": "ENSP00000570152.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 490,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900093.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP46A1",
"gene_hgnc_id": 2641,
"hgvs_c": "c.1372C>A",
"hgvs_p": "p.Pro458Thr",
"transcript": "ENST00000900095.1",
"protein_id": "ENSP00000570154.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 463,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900095.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP46A1",
"gene_hgnc_id": 2641,
"hgvs_c": "c.1372C>A",
"hgvs_p": "p.Pro458Thr",
"transcript": "ENST00000941881.1",
"protein_id": "ENSP00000611940.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 463,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941881.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP46A1",
"gene_hgnc_id": 2641,
"hgvs_c": "c.1246C>A",
"hgvs_p": "p.Pro416Thr",
"transcript": "ENST00000900094.1",
"protein_id": "ENSP00000570153.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 421,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900094.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP46A1",
"gene_hgnc_id": 2641,
"hgvs_c": "c.1216C>A",
"hgvs_p": "p.Pro406Thr",
"transcript": "ENST00000900097.1",
"protein_id": "ENSP00000570156.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 411,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900097.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP46A1",
"gene_hgnc_id": 2641,
"hgvs_c": "c.1192C>A",
"hgvs_p": "p.Pro398Thr",
"transcript": "ENST00000380228.6",
"protein_id": "ENSP00000369577.3",
"transcript_support_level": 2,
"aa_start": 398,
"aa_end": null,
"aa_length": 403,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380228.6"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP46A1",
"gene_hgnc_id": 2641,
"hgvs_c": "c.1453C>A",
"hgvs_p": "p.Pro485Thr",
"transcript": "XM_011536364.2",
"protein_id": "XP_011534666.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 490,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536364.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP46A1",
"gene_hgnc_id": 2641,
"hgvs_c": "c.1369C>A",
"hgvs_p": "p.Pro457Thr",
"transcript": "XM_017020933.3",
"protein_id": "XP_016876422.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 462,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020933.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP46A1",
"gene_hgnc_id": 2641,
"hgvs_c": "c.1048C>A",
"hgvs_p": "p.Pro350Thr",
"transcript": "XM_005267274.6",
"protein_id": "XP_005267331.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 355,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267274.6"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP46A1",
"gene_hgnc_id": 2641,
"hgvs_c": "c.1024C>A",
"hgvs_p": "p.Pro342Thr",
"transcript": "XM_011536365.3",
"protein_id": "XP_011534667.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 347,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536365.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP46A1",
"gene_hgnc_id": 2641,
"hgvs_c": "n.1660C>A",
"hgvs_p": null,
"transcript": "ENST00000554176.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000554176.5"
}
],
"gene_symbol": "CYP46A1",
"gene_hgnc_id": 2641,
"dbsnp": "rs779999297",
"frequency_reference_population": 0.00025998938,
"hom_count_reference_population": 0,
"allele_count_reference_population": 399,
"gnomad_exomes_af": 0.000261092,
"gnomad_genomes_af": 0.000249961,
"gnomad_exomes_ac": 361,
"gnomad_genomes_ac": 38,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.062038421630859375,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.126,
"revel_prediction": "Benign",
"alphamissense_score": 0.0863,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.612,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_006668.2",
"gene_symbol": "CYP46A1",
"hgnc_id": 2641,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1483C>A",
"hgvs_p": "p.Pro495Thr"
}
],
"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
}