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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: 22-50245698-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50245698&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HDAC10",
"hgnc_id": 18128,
"hgvs_c": "c.1963G>C",
"hgvs_p": "p.Glu655Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_032019.6",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "MAPK12",
"hgnc_id": 6874,
"hgvs_c": "n.6144G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000497036.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000288871",
"hgnc_id": null,
"hgvs_c": "n.1089C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000685176.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0681,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04509398341178894,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 669,
"aa_ref": "E",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2567,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_032019.6",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1963G>C",
"hgvs_p": "p.Glu655Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000216271.10",
"protein_coding": true,
"protein_id": "NP_114408.3",
"strand": false,
"transcript": "NM_032019.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 669,
"aa_ref": "E",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2567,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000216271.10",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1963G>C",
"hgvs_p": "p.Glu655Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032019.6",
"protein_coding": true,
"protein_id": "ENSP00000216271.5",
"strand": false,
"transcript": "ENST00000216271.10",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 649,
"aa_ref": "E",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1950,
"cdna_start": 1903,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1903,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000349505.4",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1903G>C",
"hgvs_p": "p.Glu635Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343540.4",
"strand": false,
"transcript": "ENST00000349505.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2375,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000415993.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.*1484G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000397517.1",
"strand": false,
"transcript": "ENST00000415993.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000429374.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.*1147G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000407640.1",
"strand": false,
"transcript": "ENST00000429374.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2375,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000415993.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.*1484G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000397517.1",
"strand": false,
"transcript": "ENST00000415993.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000429374.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.*1147G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000407640.1",
"strand": false,
"transcript": "ENST00000429374.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 668,
"aa_ref": "E",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 2164,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1960,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000895908.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1960G>C",
"hgvs_p": "p.Glu654Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565967.1",
"strand": false,
"transcript": "ENST00000895908.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 664,
"aa_ref": "E",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": 2181,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1948,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000895903.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1948G>C",
"hgvs_p": "p.Glu650Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565962.1",
"strand": false,
"transcript": "ENST00000895903.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 661,
"aa_ref": "E",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1939,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000895906.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1939G>C",
"hgvs_p": "p.Glu647Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565965.1",
"strand": false,
"transcript": "ENST00000895906.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 657,
"aa_ref": "E",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2620,
"cdna_start": 2249,
"cds_end": null,
"cds_length": 1974,
"cds_start": 1927,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000895900.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1927G>C",
"hgvs_p": "p.Glu643Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565959.1",
"strand": false,
"transcript": "ENST00000895900.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 649,
"aa_ref": "E",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 2136,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1903,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001159286.2",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1903G>C",
"hgvs_p": "p.Glu635Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001152758.1",
"strand": false,
"transcript": "NM_001159286.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 647,
"aa_ref": "E",
"aa_start": 633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 2157,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1897,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000895901.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1897G>C",
"hgvs_p": "p.Glu633Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565960.1",
"strand": false,
"transcript": "ENST00000895901.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 637,
"aa_ref": "E",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2448,
"cdna_start": 2077,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1867,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000895907.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1867G>C",
"hgvs_p": "p.Glu623Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565966.1",
"strand": false,
"transcript": "ENST00000895907.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 631,
"aa_ref": "E",
"aa_start": 617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2427,
"cdna_start": 2059,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1849,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000948609.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1849G>C",
"hgvs_p": "p.Glu617Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618668.1",
"strand": false,
"transcript": "ENST00000948609.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 627,
"aa_ref": "E",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 2089,
"cds_end": null,
"cds_length": 1884,
"cds_start": 1837,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000895902.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1837G>C",
"hgvs_p": "p.Glu613Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565961.1",
"strand": false,
"transcript": "ENST00000895902.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 623,
"aa_ref": "E",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1825,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000895905.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1825G>C",
"hgvs_p": "p.Glu609Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565964.1",
"strand": false,
"transcript": "ENST00000895905.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 619,
"aa_ref": "E",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 2021,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000448072.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1813G>C",
"hgvs_p": "p.Glu605Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397542.1",
"strand": false,
"transcript": "ENST00000448072.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 604,
"aa_ref": "E",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": 2001,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1768,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000895904.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1768G>C",
"hgvs_p": "p.Glu590Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565963.1",
"strand": false,
"transcript": "ENST00000895904.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 532,
"aa_ref": "E",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2142,
"cdna_start": 1774,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000948608.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1552G>C",
"hgvs_p": "p.Glu518Gln",
"intron_rank": null,
"intron_rank_end": null,
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