← Back to variant description
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: 16-3729593-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3729593&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 3729593,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000262367.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.5454G>A",
"hgvs_p": "p.Val1818Val",
"transcript": "NM_004380.3",
"protein_id": "NP_004371.2",
"transcript_support_level": null,
"aa_start": 1818,
"aa_end": null,
"aa_length": 2442,
"cds_start": 5454,
"cds_end": null,
"cds_length": 7329,
"cdna_start": 6251,
"cdna_end": null,
"cdna_length": 10790,
"mane_select": "ENST00000262367.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.5454G>A",
"hgvs_p": "p.Val1818Val",
"transcript": "ENST00000262367.10",
"protein_id": "ENSP00000262367.5",
"transcript_support_level": 1,
"aa_start": 1818,
"aa_end": null,
"aa_length": 2442,
"cds_start": 5454,
"cds_end": null,
"cds_length": 7329,
"cdna_start": 6251,
"cdna_end": null,
"cdna_length": 10790,
"mane_select": "NM_004380.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.5340G>A",
"hgvs_p": "p.Val1780Val",
"transcript": "ENST00000382070.7",
"protein_id": "ENSP00000371502.3",
"transcript_support_level": 1,
"aa_start": 1780,
"aa_end": null,
"aa_length": 2404,
"cds_start": 5340,
"cds_end": null,
"cds_length": 7215,
"cdna_start": 5544,
"cdna_end": null,
"cdna_length": 7598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.5340G>A",
"hgvs_p": "p.Val1780Val",
"transcript": "NM_001079846.1",
"protein_id": "NP_001073315.1",
"transcript_support_level": null,
"aa_start": 1780,
"aa_end": null,
"aa_length": 2404,
"cds_start": 5340,
"cds_end": null,
"cds_length": 7215,
"cdna_start": 5544,
"cdna_end": null,
"cdna_length": 10083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.5448G>A",
"hgvs_p": "p.Val1816Val",
"transcript": "XM_017022944.2",
"protein_id": "XP_016878433.1",
"transcript_support_level": null,
"aa_start": 1816,
"aa_end": null,
"aa_length": 2440,
"cds_start": 5448,
"cds_end": null,
"cds_length": 7323,
"cdna_start": 6245,
"cdna_end": null,
"cdna_length": 10784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.5409G>A",
"hgvs_p": "p.Val1803Val",
"transcript": "XM_005255124.5",
"protein_id": "XP_005255181.1",
"transcript_support_level": null,
"aa_start": 1803,
"aa_end": null,
"aa_length": 2427,
"cds_start": 5409,
"cds_end": null,
"cds_length": 7284,
"cdna_start": 6206,
"cdna_end": null,
"cdna_length": 10745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.5403G>A",
"hgvs_p": "p.Val1801Val",
"transcript": "XM_047433624.1",
"protein_id": "XP_047289580.1",
"transcript_support_level": null,
"aa_start": 1801,
"aa_end": null,
"aa_length": 2425,
"cds_start": 5403,
"cds_end": null,
"cds_length": 7278,
"cdna_start": 6200,
"cdna_end": null,
"cdna_length": 10739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.5295G>A",
"hgvs_p": "p.Val1765Val",
"transcript": "XM_047433625.1",
"protein_id": "XP_047289581.1",
"transcript_support_level": null,
"aa_start": 1765,
"aa_end": null,
"aa_length": 2389,
"cds_start": 5295,
"cds_end": null,
"cds_length": 7170,
"cdna_start": 6092,
"cdna_end": null,
"cdna_length": 10631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.5193G>A",
"hgvs_p": "p.Val1731Val",
"transcript": "XM_006720848.4",
"protein_id": "XP_006720911.1",
"transcript_support_level": null,
"aa_start": 1731,
"aa_end": null,
"aa_length": 2355,
"cds_start": 5193,
"cds_end": null,
"cds_length": 7068,
"cdna_start": 5990,
"cdna_end": null,
"cdna_length": 10529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.5037G>A",
"hgvs_p": "p.Val1679Val",
"transcript": "XM_005255125.5",
"protein_id": "XP_005255182.1",
"transcript_support_level": null,
"aa_start": 1679,
"aa_end": null,
"aa_length": 2303,
"cds_start": 5037,
"cds_end": null,
"cds_length": 6912,
"cdna_start": 5834,
"cdna_end": null,
"cdna_length": 10373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.4701G>A",
"hgvs_p": "p.Val1567Val",
"transcript": "XM_011522381.3",
"protein_id": "XP_011520683.1",
"transcript_support_level": null,
"aa_start": 1567,
"aa_end": null,
"aa_length": 2191,
"cds_start": 4701,
"cds_end": null,
"cds_length": 6576,
"cdna_start": 6174,
"cdna_end": null,
"cdna_length": 10713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"dbsnp": "rs61754523",
"frequency_reference_population": 0.009433752,
"hom_count_reference_population": 105,
"allele_count_reference_population": 15228,
"gnomad_exomes_af": 0.00963362,
"gnomad_genomes_af": 0.00751589,
"gnomad_exomes_ac": 14083,
"gnomad_genomes_ac": 1145,
"gnomad_exomes_homalt": 99,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.226,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000262367.10",
"gene_symbol": "CREBBP",
"hgnc_id": 2348,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5454G>A",
"hgvs_p": "p.Val1818Val"
}
],
"clinvar_disease": "Inborn genetic diseases,Rubinstein-Taybi syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Rubinstein-Taybi syndrome|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}