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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: 16-3778699-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3778699&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 3778699,
"ref": "C",
"alt": "T",
"effect": "splice_donor_variant,intron_variant",
"transcript": "NM_004380.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1941+1G>A",
"hgvs_p": null,
"transcript": "NM_004380.3",
"protein_id": "NP_004371.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2442,
"cds_start": -4,
"cds_end": null,
"cds_length": 7329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10790,
"mane_select": "ENST00000262367.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1941+1G>A",
"hgvs_p": null,
"transcript": "ENST00000262367.10",
"protein_id": "ENSP00000262367.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2442,
"cds_start": -4,
"cds_end": null,
"cds_length": 7329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10790,
"mane_select": "NM_004380.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1827+1G>A",
"hgvs_p": null,
"transcript": "ENST00000382070.7",
"protein_id": "ENSP00000371502.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2404,
"cds_start": -4,
"cds_end": null,
"cds_length": 7215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1827+1G>A",
"hgvs_p": null,
"transcript": "NM_001079846.1",
"protein_id": "NP_001073315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2404,
"cds_start": -4,
"cds_end": null,
"cds_length": 7215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.546+1G>A",
"hgvs_p": null,
"transcript": "ENST00000570939.2",
"protein_id": "ENSP00000461002.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1104,
"cds_start": -4,
"cds_end": null,
"cds_length": 3316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.252+1G>A",
"hgvs_p": null,
"transcript": "ENST00000572134.1",
"protein_id": "ENSP00000458254.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": -4,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "n.103+1G>A",
"hgvs_p": null,
"transcript": "ENST00000634839.1",
"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": 339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1941+1G>A",
"hgvs_p": null,
"transcript": "XM_017022944.2",
"protein_id": "XP_016878433.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2440,
"cds_start": -4,
"cds_end": null,
"cds_length": 7323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1941+1G>A",
"hgvs_p": null,
"transcript": "XM_005255124.5",
"protein_id": "XP_005255181.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2427,
"cds_start": -4,
"cds_end": null,
"cds_length": 7284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1941+1G>A",
"hgvs_p": null,
"transcript": "XM_047433624.1",
"protein_id": "XP_047289580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2425,
"cds_start": -4,
"cds_end": null,
"cds_length": 7278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1827+1G>A",
"hgvs_p": null,
"transcript": "XM_047433625.1",
"protein_id": "XP_047289581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2389,
"cds_start": -4,
"cds_end": null,
"cds_length": 7170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1941+1G>A",
"hgvs_p": null,
"transcript": "XM_006720848.4",
"protein_id": "XP_006720911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2355,
"cds_start": -4,
"cds_end": null,
"cds_length": 7068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1941+1G>A",
"hgvs_p": null,
"transcript": "XM_005255125.5",
"protein_id": "XP_005255182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2303,
"cds_start": -4,
"cds_end": null,
"cds_length": 6912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1188+1G>A",
"hgvs_p": null,
"transcript": "XM_011522381.3",
"protein_id": "XP_011520683.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2191,
"cds_start": -4,
"cds_end": null,
"cds_length": 6576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.1941+1G>A",
"hgvs_p": null,
"transcript": "XM_011522382.4",
"protein_id": "XP_011520684.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1286,
"cds_start": -4,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"dbsnp": "rs1555483834",
"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": 0.4300000071525574,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9520000219345093,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.774,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 1,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999986675681007,
"dbscsnv_ada_prediction": "Pathogenic",
"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": "NM_004380.3",
"gene_symbol": "CREBBP",
"hgnc_id": 2348,
"effects": [
"splice_donor_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1941+1G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Rubinstein-Taybi syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Rubinstein-Taybi syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}