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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: 6-113953298-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=113953298&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "HDAC2",
"hgnc_id": 4853,
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Phe206Phe",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001527.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS2",
"acmg_score": -8,
"allele_count_reference_population": 12,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "6",
"clinvar_classification": "Likely benign",
"clinvar_disease": "HDAC2-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4300000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 488,
"aa_ref": "F",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9737,
"cdna_start": 858,
"cds_end": null,
"cds_length": 1467,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001527.4",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Phe206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000519065.6",
"protein_coding": true,
"protein_id": "NP_001518.3",
"strand": false,
"transcript": "NM_001527.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 488,
"aa_ref": "F",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9737,
"cdna_start": 858,
"cds_end": null,
"cds_length": 1467,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000519065.6",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Phe206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001527.4",
"protein_coding": true,
"protein_id": "ENSP00000430432.1",
"strand": false,
"transcript": "ENST00000519065.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 501,
"aa_ref": "F",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2127,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1506,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916847.1",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Phe206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586906.1",
"strand": false,
"transcript": "ENST00000916847.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 496,
"aa_ref": "F",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2103,
"cdna_start": 908,
"cds_end": null,
"cds_length": 1491,
"cds_start": 642,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000869750.1",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "c.642T>C",
"hgvs_p": "p.Phe214Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539809.1",
"strand": false,
"transcript": "ENST00000869750.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 492,
"aa_ref": "F",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2060,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1479,
"cds_start": 630,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916850.1",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "c.630T>C",
"hgvs_p": "p.Phe210Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586909.1",
"strand": false,
"transcript": "ENST00000916850.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 486,
"aa_ref": "F",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2124,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1461,
"cds_start": 612,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916845.1",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "c.612T>C",
"hgvs_p": "p.Phe204Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586904.1",
"strand": false,
"transcript": "ENST00000916845.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 484,
"aa_ref": "F",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1455,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916846.1",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Phe206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586905.1",
"strand": false,
"transcript": "ENST00000916846.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 484,
"aa_ref": "F",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2038,
"cdna_start": 862,
"cds_end": null,
"cds_length": 1455,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916849.1",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Phe206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586908.1",
"strand": false,
"transcript": "ENST00000916849.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 482,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2060,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1449,
"cds_start": 600,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000869751.1",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "c.600T>C",
"hgvs_p": "p.Phe200Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539810.1",
"strand": false,
"transcript": "ENST00000869751.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 482,
"aa_ref": "F",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 855,
"cds_end": null,
"cds_length": 1449,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000869752.1",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Phe206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539811.1",
"strand": false,
"transcript": "ENST00000869752.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 468,
"aa_ref": "F",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1979,
"cdna_start": 849,
"cds_end": null,
"cds_length": 1407,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916851.1",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Phe206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586910.1",
"strand": false,
"transcript": "ENST00000916851.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 458,
"aa_ref": "F",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2084,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1377,
"cds_start": 528,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000368632.6",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "c.528T>C",
"hgvs_p": "p.Phe176Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357621.2",
"strand": false,
"transcript": "ENST00000368632.6",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 458,
"aa_ref": "F",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2000,
"cdna_start": 811,
"cds_end": null,
"cds_length": 1377,
"cds_start": 528,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000519108.5",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "c.528T>C",
"hgvs_p": "p.Phe176Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430008.1",
"strand": false,
"transcript": "ENST00000519108.5",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 457,
"aa_ref": "F",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1374,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916848.1",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Phe206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586907.1",
"strand": false,
"transcript": "ENST00000916848.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 458,
"aa_ref": "F",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9471,
"cdna_start": 592,
"cds_end": null,
"cds_length": 1377,
"cds_start": 528,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047418692.1",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "c.528T>C",
"hgvs_p": "p.Phe176Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274648.1",
"strand": false,
"transcript": "XM_047418692.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 330,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1553,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952494.1",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "c.166-4038T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622553.1",
"strand": false,
"transcript": "ENST00000952494.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4810,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000523334.1",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "n.711T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000523334.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 9765,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NR_033441.2",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "n.886T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_033441.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 9695,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NR_073443.2",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "n.816T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_073443.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 826,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000518756.1",
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"hgvs_c": "n.*102T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000518756.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs754914702",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000007448734,
"gene_hgnc_id": 4853,
"gene_symbol": "HDAC2",
"gnomad_exomes_ac": 10,
"gnomad_exomes_af": 0.00000685502,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131382,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "HDAC2-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.811,
"pos": 113953298,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001527.4"
}
]
}