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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: 16-3780733-GT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3780733&ref=GT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 3780733,
"ref": "GT",
"alt": "G",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "ENST00000262367.10",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1821delA",
"hgvs_p": "p.Lys607fs",
"transcript": "NM_004380.3",
"protein_id": "NP_004371.2",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 2442,
"cds_start": 1821,
"cds_end": null,
"cds_length": 7329,
"cdna_start": 2618,
"cdna_end": null,
"cdna_length": 10790,
"mane_select": "ENST00000262367.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1821delA",
"hgvs_p": "p.Lys607fs",
"transcript": "ENST00000262367.10",
"protein_id": "ENSP00000262367.5",
"transcript_support_level": 1,
"aa_start": 607,
"aa_end": null,
"aa_length": 2442,
"cds_start": 1821,
"cds_end": null,
"cds_length": 7329,
"cdna_start": 2618,
"cdna_end": null,
"cdna_length": 10790,
"mane_select": "NM_004380.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1707delA",
"hgvs_p": "p.Lys569fs",
"transcript": "ENST00000382070.7",
"protein_id": "ENSP00000371502.3",
"transcript_support_level": 1,
"aa_start": 569,
"aa_end": null,
"aa_length": 2404,
"cds_start": 1707,
"cds_end": null,
"cds_length": 7215,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 7598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1707delA",
"hgvs_p": "p.Lys569fs",
"transcript": "NM_001079846.1",
"protein_id": "NP_001073315.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 2404,
"cds_start": 1707,
"cds_end": null,
"cds_length": 7215,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 10083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.426delA",
"hgvs_p": "p.Lys142fs",
"transcript": "ENST00000570939.2",
"protein_id": "ENSP00000461002.2",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 1104,
"cds_start": 426,
"cds_end": null,
"cds_length": 3316,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.132delA",
"hgvs_p": "p.Lys44fs",
"transcript": "ENST00000572134.1",
"protein_id": "ENSP00000458254.1",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 253,
"cds_start": 132,
"cds_end": null,
"cds_length": 762,
"cdna_start": 134,
"cdna_end": null,
"cdna_length": 846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1821delA",
"hgvs_p": "p.Lys607fs",
"transcript": "XM_017022944.2",
"protein_id": "XP_016878433.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 2440,
"cds_start": 1821,
"cds_end": null,
"cds_length": 7323,
"cdna_start": 2618,
"cdna_end": null,
"cdna_length": 10784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1821delA",
"hgvs_p": "p.Lys607fs",
"transcript": "XM_005255124.5",
"protein_id": "XP_005255181.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 2427,
"cds_start": 1821,
"cds_end": null,
"cds_length": 7284,
"cdna_start": 2618,
"cdna_end": null,
"cdna_length": 10745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1821delA",
"hgvs_p": "p.Lys607fs",
"transcript": "XM_047433624.1",
"protein_id": "XP_047289580.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 2425,
"cds_start": 1821,
"cds_end": null,
"cds_length": 7278,
"cdna_start": 2618,
"cdna_end": null,
"cdna_length": 10739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1707delA",
"hgvs_p": "p.Lys569fs",
"transcript": "XM_047433625.1",
"protein_id": "XP_047289581.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 2389,
"cds_start": 1707,
"cds_end": null,
"cds_length": 7170,
"cdna_start": 2504,
"cdna_end": null,
"cdna_length": 10631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1821delA",
"hgvs_p": "p.Lys607fs",
"transcript": "XM_006720848.4",
"protein_id": "XP_006720911.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 2355,
"cds_start": 1821,
"cds_end": null,
"cds_length": 7068,
"cdna_start": 2618,
"cdna_end": null,
"cdna_length": 10529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1821delA",
"hgvs_p": "p.Lys607fs",
"transcript": "XM_005255125.5",
"protein_id": "XP_005255182.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 2303,
"cds_start": 1821,
"cds_end": null,
"cds_length": 6912,
"cdna_start": 2618,
"cdna_end": null,
"cdna_length": 10373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1068delA",
"hgvs_p": "p.Lys356fs",
"transcript": "XM_011522381.3",
"protein_id": "XP_011520683.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 2191,
"cds_start": 1068,
"cds_end": null,
"cds_length": 6576,
"cdna_start": 2541,
"cdna_end": null,
"cdna_length": 10713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1821delA",
"hgvs_p": "p.Lys607fs",
"transcript": "XM_011522382.4",
"protein_id": "XP_011520684.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1286,
"cds_start": 1821,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 2618,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"dbsnp": "rs587783467",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.825,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000262367.10",
"gene_symbol": "CREBBP",
"hgnc_id": 2348,
"effects": [
"frameshift_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1821delA",
"hgvs_p": "p.Lys607fs"
}
],
"clinvar_disease": "Rubinstein-Taybi syndrome due to CREBBP mutations",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Rubinstein-Taybi syndrome due to CREBBP mutations",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}