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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: 6-113948991-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=113948991&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 113948991,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001527.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Leu277Leu",
"transcript": "NM_001527.4",
"protein_id": "NP_001518.3",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 488,
"cds_start": 829,
"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": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Leu277Leu",
"transcript": "ENST00000519065.6",
"protein_id": "ENSP00000430432.1",
"transcript_support_level": 1,
"aa_start": 277,
"aa_end": null,
"aa_length": 488,
"cds_start": 829,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Leu277Leu",
"transcript": "ENST00000916847.1",
"protein_id": "ENSP00000586906.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 501,
"cds_start": 829,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Leu285Leu",
"transcript": "ENST00000869750.1",
"protein_id": "ENSP00000539809.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 496,
"cds_start": 853,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Leu281Leu",
"transcript": "ENST00000916850.1",
"protein_id": "ENSP00000586909.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 492,
"cds_start": 841,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.823C>T",
"hgvs_p": "p.Leu275Leu",
"transcript": "ENST00000916845.1",
"protein_id": "ENSP00000586904.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 486,
"cds_start": 823,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Leu277Leu",
"transcript": "ENST00000916846.1",
"protein_id": "ENSP00000586905.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 484,
"cds_start": 829,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Leu273Leu",
"transcript": "ENST00000916849.1",
"protein_id": "ENSP00000586908.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 484,
"cds_start": 817,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Leu271Leu",
"transcript": "ENST00000869751.1",
"protein_id": "ENSP00000539810.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 482,
"cds_start": 811,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Leu277Leu",
"transcript": "ENST00000869752.1",
"protein_id": "ENSP00000539811.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 482,
"cds_start": 829,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Leu277Leu",
"transcript": "ENST00000916851.1",
"protein_id": "ENSP00000586910.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 468,
"cds_start": 829,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Leu",
"transcript": "ENST00000368632.6",
"protein_id": "ENSP00000357621.2",
"transcript_support_level": 2,
"aa_start": 247,
"aa_end": null,
"aa_length": 458,
"cds_start": 739,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Leu",
"transcript": "ENST00000519108.5",
"protein_id": "ENSP00000430008.1",
"transcript_support_level": 2,
"aa_start": 247,
"aa_end": null,
"aa_length": 458,
"cds_start": 739,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Leu246Leu",
"transcript": "ENST00000916848.1",
"protein_id": "ENSP00000586907.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 457,
"cds_start": 736,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Leu119Leu",
"transcript": "ENST00000952494.1",
"protein_id": "ENSP00000622553.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 330,
"cds_start": 355,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Leu",
"transcript": "XM_047418692.1",
"protein_id": "XP_047274648.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 458,
"cds_start": 739,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "n.253C>T",
"hgvs_p": null,
"transcript": "ENST00000520746.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000520746.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "n.1002C>T",
"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": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "n.1097C>T",
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC2",
"gene_hgnc_id": 4853,
"hgvs_c": "n.1027C>T",
"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": "rs1582482024",
"frequency_reference_population": 0.0000013684028,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013684,
"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": -0.33000001311302185,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.56,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001527.4",
"gene_symbol": "HDAC2",
"hgnc_id": 4853,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Leu277Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}