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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: 6-113944330-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=113944330&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 113944330,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001527.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.His391Arg",
"transcript": "NM_001527.4",
"protein_id": "NP_001518.3",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 488,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000519065.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001527.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.His391Arg",
"transcript": "ENST00000519065.6",
"protein_id": "ENSP00000430432.1",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 488,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001527.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519065.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.1211A>G",
"hgvs_p": "p.His404Arg",
"transcript": "ENST00000916847.1",
"protein_id": "ENSP00000586906.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 501,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916847.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.1196A>G",
"hgvs_p": "p.His399Arg",
"transcript": "ENST00000869750.1",
"protein_id": "ENSP00000539809.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 496,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869750.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.His395Arg",
"transcript": "ENST00000916850.1",
"protein_id": "ENSP00000586909.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 492,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916850.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.1166A>G",
"hgvs_p": "p.His389Arg",
"transcript": "ENST00000916845.1",
"protein_id": "ENSP00000586904.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 486,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916845.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.His391Arg",
"transcript": "ENST00000916846.1",
"protein_id": "ENSP00000586905.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 484,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916846.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.His387Arg",
"transcript": "ENST00000916849.1",
"protein_id": "ENSP00000586908.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 484,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916849.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.1154A>G",
"hgvs_p": "p.His385Arg",
"transcript": "ENST00000869751.1",
"protein_id": "ENSP00000539810.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 482,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869751.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.1154A>G",
"hgvs_p": "p.His385Arg",
"transcript": "ENST00000869752.1",
"protein_id": "ENSP00000539811.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 482,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869752.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.1112A>G",
"hgvs_p": "p.His371Arg",
"transcript": "ENST00000916851.1",
"protein_id": "ENSP00000586910.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 468,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916851.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.1082A>G",
"hgvs_p": "p.His361Arg",
"transcript": "ENST00000368632.6",
"protein_id": "ENSP00000357621.2",
"transcript_support_level": 2,
"aa_start": 361,
"aa_end": null,
"aa_length": 458,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368632.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.1082A>G",
"hgvs_p": "p.His361Arg",
"transcript": "ENST00000519108.5",
"protein_id": "ENSP00000430008.1",
"transcript_support_level": 2,
"aa_start": 361,
"aa_end": null,
"aa_length": 458,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519108.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.1079A>G",
"hgvs_p": "p.His360Arg",
"transcript": "ENST00000916848.1",
"protein_id": "ENSP00000586907.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 457,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916848.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.698A>G",
"hgvs_p": "p.His233Arg",
"transcript": "ENST00000952494.1",
"protein_id": "ENSP00000622553.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 330,
"cds_start": 698,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952494.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.1082A>G",
"hgvs_p": "p.His361Arg",
"transcript": "XM_047418692.1",
"protein_id": "XP_047274648.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 458,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418692.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "n.4175A>G",
"hgvs_p": null,
"transcript": "ENST00000523334.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000523334.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "n.1440A>G",
"hgvs_p": null,
"transcript": "NR_033441.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_033441.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "n.1370A>G",
"hgvs_p": null,
"transcript": "NR_073443.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_073443.2"
}
],
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"dbsnp": "rs1261159949",
"frequency_reference_population": 0.0000013691016,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013691,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1268264651298523,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.101,
"revel_prediction": "Benign",
"alphamissense_score": 0.0914,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.85,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001527.4",
"gene_symbol": "HDAC2",
"hgnc_id": 4853,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.His391Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}