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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: 17-44087517-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44087517&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44087517,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000682912.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Asp593Asp",
"transcript": "NM_005474.5",
"protein_id": "NP_005465.2",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1122,
"cds_start": 1779,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 2106,
"cdna_end": null,
"cdna_length": 5319,
"mane_select": "ENST00000682912.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Asp593Asp",
"transcript": "ENST00000682912.1",
"protein_id": "ENSP00000507606.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1122,
"cds_start": 1779,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 2106,
"cdna_end": null,
"cdna_length": 5319,
"mane_select": "NM_005474.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Asp593Asp",
"transcript": "ENST00000586802.5",
"protein_id": "ENSP00000468004.1",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 1122,
"cds_start": 1779,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 3662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Asp593Asp",
"transcript": "ENST00000336057.9",
"protein_id": "ENSP00000337290.4",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 1037,
"cds_start": 1779,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 2083,
"cdna_end": null,
"cdna_length": 5040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Asp594Asp",
"transcript": "NM_001015053.2",
"protein_id": "NP_001015053.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 1123,
"cds_start": 1782,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 2109,
"cdna_end": null,
"cdna_length": 5322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Asp594Asp",
"transcript": "ENST00000225983.10",
"protein_id": "ENSP00000225983.5",
"transcript_support_level": 5,
"aa_start": 594,
"aa_end": null,
"aa_length": 1123,
"cds_start": 1782,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 2106,
"cdna_end": null,
"cdna_length": 5326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Asp593Asp",
"transcript": "NM_001382393.1",
"protein_id": "NP_001369322.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1122,
"cds_start": 1779,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 2356,
"cdna_end": null,
"cdna_length": 5569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Asp593Asp",
"transcript": "ENST00000715273.1",
"protein_id": "ENSP00000520442.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1122,
"cds_start": 1779,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 2108,
"cdna_end": null,
"cdna_length": 5321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Asp594Asp",
"transcript": "XM_047435047.1",
"protein_id": "XP_047291003.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 1123,
"cds_start": 1782,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 2359,
"cdna_end": null,
"cdna_length": 5572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1767C>T",
"hgvs_p": "p.Asp589Asp",
"transcript": "XM_047435048.1",
"protein_id": "XP_047291004.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 1118,
"cds_start": 1767,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 5307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1767C>T",
"hgvs_p": "p.Asp589Asp",
"transcript": "XM_047435049.1",
"protein_id": "XP_047291005.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 1118,
"cds_start": 1767,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 2344,
"cdna_end": null,
"cdna_length": 5557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1764C>T",
"hgvs_p": "p.Asp588Asp",
"transcript": "XM_047435050.1",
"protein_id": "XP_047291006.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 1117,
"cds_start": 1764,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 5304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1764C>T",
"hgvs_p": "p.Asp588Asp",
"transcript": "XM_047435051.1",
"protein_id": "XP_047291007.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 1117,
"cds_start": 1764,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 2341,
"cdna_end": null,
"cdna_length": 5554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1755C>T",
"hgvs_p": "p.Asp585Asp",
"transcript": "XM_011524149.3",
"protein_id": "XP_011522451.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 1114,
"cds_start": 1755,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 2082,
"cdna_end": null,
"cdna_length": 5295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1752C>T",
"hgvs_p": "p.Asp584Asp",
"transcript": "XM_047435052.1",
"protein_id": "XP_047291008.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 1113,
"cds_start": 1752,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 5292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1752C>T",
"hgvs_p": "p.Asp584Asp",
"transcript": "XM_047435053.1",
"protein_id": "XP_047291009.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 1113,
"cds_start": 1752,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 2041,
"cdna_end": null,
"cdna_length": 5254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1737C>T",
"hgvs_p": "p.Asp579Asp",
"transcript": "XM_047435054.1",
"protein_id": "XP_047291010.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 1108,
"cds_start": 1737,
"cds_end": null,
"cds_length": 3327,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 5277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1656C>T",
"hgvs_p": "p.Asp552Asp",
"transcript": "XM_047435055.1",
"protein_id": "XP_047291011.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 1081,
"cds_start": 1656,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 2340,
"cdna_end": null,
"cdna_length": 5553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1656C>T",
"hgvs_p": "p.Asp552Asp",
"transcript": "XM_047435056.1",
"protein_id": "XP_047291012.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 1081,
"cds_start": 1656,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 4986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Asp594Asp",
"transcript": "XM_047435057.1",
"protein_id": "XP_047291013.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 694,
"cds_start": 1782,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 2109,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "n.759C>T",
"hgvs_p": null,
"transcript": "ENST00000592385.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"dbsnp": "rs228757",
"frequency_reference_population": 0.000017996348,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000178139,
"gnomad_genomes_af": 0.0000197498,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7400000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.837,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000682912.1",
"gene_symbol": "HDAC5",
"hgnc_id": 14068,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Asp593Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}