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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: 16-3757375-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3757375&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 3757375,
"ref": "T",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_004380.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.3611A>T",
"hgvs_p": "p.Tyr1204Phe",
"transcript": "NM_004380.3",
"protein_id": "NP_004371.2",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 2442,
"cds_start": 3611,
"cds_end": null,
"cds_length": 7329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262367.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004380.3"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.3611A>T",
"hgvs_p": "p.Tyr1204Phe",
"transcript": "ENST00000262367.10",
"protein_id": "ENSP00000262367.5",
"transcript_support_level": 1,
"aa_start": 1204,
"aa_end": null,
"aa_length": 2442,
"cds_start": 3611,
"cds_end": null,
"cds_length": 7329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004380.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262367.10"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.3497A>T",
"hgvs_p": "p.Tyr1166Phe",
"transcript": "ENST00000382070.7",
"protein_id": "ENSP00000371502.3",
"transcript_support_level": 1,
"aa_start": 1166,
"aa_end": null,
"aa_length": 2404,
"cds_start": 3497,
"cds_end": null,
"cds_length": 7215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382070.7"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.3497A>T",
"hgvs_p": "p.Tyr1166Phe",
"transcript": "NM_001079846.1",
"protein_id": "NP_001073315.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 2404,
"cds_start": 3497,
"cds_end": null,
"cds_length": 7215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079846.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.2216A>T",
"hgvs_p": "p.Tyr739Phe",
"transcript": "ENST00000570939.2",
"protein_id": "ENSP00000461002.2",
"transcript_support_level": 5,
"aa_start": 739,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2216,
"cds_end": null,
"cds_length": 3316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570939.2"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.3605A>T",
"hgvs_p": "p.Tyr1202Phe",
"transcript": "XM_017022944.2",
"protein_id": "XP_016878433.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 2440,
"cds_start": 3605,
"cds_end": null,
"cds_length": 7323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022944.2"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.3566A>T",
"hgvs_p": "p.Tyr1189Phe",
"transcript": "XM_005255124.5",
"protein_id": "XP_005255181.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 2427,
"cds_start": 3566,
"cds_end": null,
"cds_length": 7284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255124.5"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.3560A>T",
"hgvs_p": "p.Tyr1187Phe",
"transcript": "XM_047433624.1",
"protein_id": "XP_047289580.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 2425,
"cds_start": 3560,
"cds_end": null,
"cds_length": 7278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433624.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.3452A>T",
"hgvs_p": "p.Tyr1151Phe",
"transcript": "XM_047433625.1",
"protein_id": "XP_047289581.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 2389,
"cds_start": 3452,
"cds_end": null,
"cds_length": 7170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433625.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.3611A>T",
"hgvs_p": "p.Tyr1204Phe",
"transcript": "XM_006720848.4",
"protein_id": "XP_006720911.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 2355,
"cds_start": 3611,
"cds_end": null,
"cds_length": 7068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720848.4"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.3194A>T",
"hgvs_p": "p.Tyr1065Phe",
"transcript": "XM_005255125.5",
"protein_id": "XP_005255182.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 2303,
"cds_start": 3194,
"cds_end": null,
"cds_length": 6912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255125.5"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.2858A>T",
"hgvs_p": "p.Tyr953Phe",
"transcript": "XM_011522381.3",
"protein_id": "XP_011520683.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 2191,
"cds_start": 2858,
"cds_end": null,
"cds_length": 6576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522381.3"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.3611A>T",
"hgvs_p": "p.Tyr1204Phe",
"transcript": "XM_011522382.4",
"protein_id": "XP_011520684.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3611,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522382.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.-86A>T",
"hgvs_p": null,
"transcript": "ENST00000573517.6",
"protein_id": "ENSP00000460474.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 195,
"cds_start": null,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573517.6"
}
],
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"dbsnp": "rs200346970",
"frequency_reference_population": 0.0001476392,
"hom_count_reference_population": 1,
"allele_count_reference_population": 238,
"gnomad_exomes_af": 0.000150018,
"gnomad_genomes_af": 0.000124821,
"gnomad_exomes_ac": 219,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22676512598991394,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5580000281333923,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.381,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.086,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.57,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.306636992163771,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004380.3",
"gene_symbol": "CREBBP",
"hgnc_id": 2348,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3611A>T",
"hgvs_p": "p.Tyr1204Phe"
}
],
"clinvar_disease": "Rubinstein-Taybi syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 O:1",
"phenotype_combined": "not specified|not provided|Rubinstein-Taybi syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}