← Back to variant description
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: 22-50245967-GAG-CAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50245967&ref=GAG&alt=CAC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "HDAC10",
"hgnc_id": 18128,
"hgvs_c": "c.1774_1776delCTCinsGTG",
"hgvs_p": "p.Leu592Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_032019.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "MAPK12",
"hgnc_id": 6874,
"hgvs_c": "n.6046_6048delCTCinsGTG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000497036.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000288871",
"hgnc_id": null,
"hgvs_c": "n.1358_1360delGAGinsCAC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000685176.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CAC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 669,
"aa_ref": "L",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2567,
"cdna_start": 2009,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1774,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032019.6",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1774_1776delCTCinsGTG",
"hgvs_p": "p.Leu592Val",
"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": "V",
"aa_end": null,
"aa_length": 669,
"aa_ref": "L",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2567,
"cdna_start": 2009,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1774,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000216271.10",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1774_1776delCTCinsGTG",
"hgvs_p": "p.Leu592Val",
"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": "V",
"aa_end": null,
"aa_length": 649,
"aa_ref": "L",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1950,
"cdna_start": 1716,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000349505.4",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1714_1716delCTCinsGTG",
"hgvs_p": "p.Leu572Val",
"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": 16,
"exon_rank_end": null,
"feature": "ENST00000415993.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.*1295_*1297delCTCinsGTG",
"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": 12,
"exon_rank_end": null,
"feature": "ENST00000429374.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.*958_*960delCTCinsGTG",
"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": 16,
"exon_rank_end": null,
"feature": "ENST00000415993.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.*1295_*1297delCTCinsGTG",
"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": 12,
"exon_rank_end": null,
"feature": "ENST00000429374.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.*958_*960delCTCinsGTG",
"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": "V",
"aa_end": null,
"aa_length": 668,
"aa_ref": "L",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 1977,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1771,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895908.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1771_1773delCTCinsGTG",
"hgvs_p": "p.Leu591Val",
"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": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "L",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": 2009,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1774,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895903.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1774_1776delCTCinsGTG",
"hgvs_p": "p.Leu592Val",
"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": "V",
"aa_end": null,
"aa_length": 661,
"aa_ref": "L",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 1966,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1750,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895906.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1750_1752delCTCinsGTG",
"hgvs_p": "p.Leu584Val",
"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": "V",
"aa_end": null,
"aa_length": 657,
"aa_ref": "L",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2620,
"cdna_start": 2062,
"cds_end": null,
"cds_length": 1974,
"cds_start": 1738,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895900.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1738_1740delCTCinsGTG",
"hgvs_p": "p.Leu580Val",
"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": "V",
"aa_end": null,
"aa_length": 649,
"aa_ref": "L",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 1949,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001159286.2",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1714_1716delCTCinsGTG",
"hgvs_p": "p.Leu572Val",
"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": "V",
"aa_end": null,
"aa_length": 647,
"aa_ref": "L",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 1970,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1708,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895901.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1708_1710delCTCinsGTG",
"hgvs_p": "p.Leu570Val",
"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": "V",
"aa_end": null,
"aa_length": 637,
"aa_ref": "L",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2448,
"cdna_start": 1890,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1678,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895907.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1678_1680delCTCinsGTG",
"hgvs_p": "p.Leu560Val",
"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": "V",
"aa_end": null,
"aa_length": 631,
"aa_ref": "L",
"aa_start": 554,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2427,
"cdna_start": 1872,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1660,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948609.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1660_1662delCTCinsGTG",
"hgvs_p": "p.Leu554Val",
"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": "V",
"aa_end": null,
"aa_length": 627,
"aa_ref": "L",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 1902,
"cds_end": null,
"cds_length": 1884,
"cds_start": 1648,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895902.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1648_1650delCTCinsGTG",
"hgvs_p": "p.Leu550Val",
"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": "V",
"aa_end": null,
"aa_length": 623,
"aa_ref": "L",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": 1865,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1636,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895905.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1636_1638delCTCinsGTG",
"hgvs_p": "p.Leu546Val",
"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": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "L",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1624,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000448072.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1624_1626delCTCinsGTG",
"hgvs_p": "p.Leu542Val",
"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": "V",
"aa_end": null,
"aa_length": 604,
"aa_ref": "L",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": 1814,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895904.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1579_1581delCTCinsGTG",
"hgvs_p": "p.Leu527Val",
"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": "V",
"aa_end": null,
"aa_length": 532,
"aa_ref": "L",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2142,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1363,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948608.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1363_1365delCTCinsGTG",
"hgvs_p": "p.Leu455Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618667.1",
"strand": false,
"transcript": "ENST00000948608.1",
"transcript_support_level": null
},
{
"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": 1922,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000454936.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.*348_*350delCTCinsGTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000406150.1",
"strand": false,
"transcript": "ENST00000454936.5",
"transcript_support_level": 2
},
{
"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": 1784,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000477814.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.1409_1411delCTCinsGTG",
"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": "ENST00000477814.5",
"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": 2091,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000483222.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.1790_1792delCTCinsGTG",
"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": "ENST00000483222.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6248,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000497036.5",
"gene_hgnc_id": 6874,
"gene_symbol": "MAPK12",
"hgvs_c": "n.6046_6048delCTCinsGTG",
"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": "ENST00000497036.5",
"transcript_support_level": 2
},
{
"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": 976,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000497952.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.798_800delCTCinsGTG",
"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": "ENST00000497952.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000498366.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.1852_1854delCTCinsGTG",
"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": "ENST00000498366.5",
"transcript_support_level": 5
},
{
"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": 2607,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000626012.2",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.*1386_*1388delCTCinsGTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000486864.1",
"strand": false,
"transcript": "ENST00000626012.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2405,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000685176.3",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288871",
"hgvs_c": "n.1358_1360delGAGinsCAC",
"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": "ENST00000685176.3",
"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": 1467,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000726335.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288871",
"hgvs_c": "n.312_314delGAGinsCAC",
"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": "ENST00000726335.1",
"transcript_support_level": null
},
{
"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": 1922,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000454936.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.*348_*350delCTCinsGTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000406150.1",
"strand": false,
"transcript": "ENST00000454936.5",
"transcript_support_level": 2
},
{
"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": 2607,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000626012.2",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.*1386_*1388delCTCinsGTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000486864.1",
"strand": false,
"transcript": "ENST00000626012.2",
"transcript_support_level": 5
},
{
"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": 885,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000496235.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.*10_*12delCTCinsGTG",
"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": "ENST00000496235.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.79,
"pos": 50245967,
"ref": "GAG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_032019.6"
}
]
}