← 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: X-72464626-TGGAG-AC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=72464626&ref=TGGAG&alt=AC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 72464626,
"ref": "TGGAG",
"alt": "AC",
"effect": "missense_variant,disruptive_inframe_deletion",
"transcript": "NM_001410725.1",
"consequences": [
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "NM_018486.3",
"protein_id": "NP_060956.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 377,
"cds_start": 839,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373573.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018486.3"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000373573.9",
"protein_id": "ENSP00000362674.3",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 377,
"cds_start": 839,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018486.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373573.9"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285547",
"gene_hgnc_id": null,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000648922.1",
"protein_id": "ENSP00000497072.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 555,
"cds_start": 839,
"cds_end": null,
"cds_length": 1670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648922.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000373568.7",
"protein_id": "ENSP00000362669.3",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 417,
"cds_start": 839,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373568.7"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000648452.1",
"protein_id": "ENSP00000497268.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 414,
"cds_start": 839,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648452.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "NM_001410725.1",
"protein_id": "NP_001397654.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 403,
"cds_start": 839,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410725.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000647886.1",
"protein_id": "ENSP00000497188.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 403,
"cds_start": 839,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647886.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000881225.1",
"protein_id": "ENSP00000551284.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 392,
"cds_start": 839,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881225.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.761_765delCTCCAinsGT",
"hgvs_p": "p.Thr254_Pro255delinsSer",
"transcript": "ENST00000881229.1",
"protein_id": "ENSP00000551288.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 377,
"cds_start": 761,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881229.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000925427.1",
"protein_id": "ENSP00000595486.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 376,
"cds_start": 839,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925427.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.833_837delCTCCAinsGT",
"hgvs_p": "p.Thr278_Pro279delinsSer",
"transcript": "ENST00000647980.1",
"protein_id": "ENSP00000498002.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 375,
"cds_start": 833,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647980.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000647594.1",
"protein_id": "ENSP00000496814.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 373,
"cds_start": 839,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647594.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000647859.1",
"protein_id": "ENSP00000497530.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 373,
"cds_start": 839,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647859.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.761_765delCTCCAinsGT",
"hgvs_p": "p.Thr254_Pro255delinsSer",
"transcript": "NM_001410727.1",
"protein_id": "NP_001397656.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 351,
"cds_start": 761,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410727.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.761_765delCTCCAinsGT",
"hgvs_p": "p.Thr254_Pro255delinsSer",
"transcript": "ENST00000373583.6",
"protein_id": "ENSP00000362685.2",
"transcript_support_level": 5,
"aa_start": 254,
"aa_end": null,
"aa_length": 351,
"cds_start": 761,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373583.6"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000648298.1",
"protein_id": "ENSP00000496866.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 350,
"cds_start": 839,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648298.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000415409.6",
"protein_id": "ENSP00000396424.2",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 344,
"cds_start": 839,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415409.6"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000648870.1",
"protein_id": "ENSP00000497599.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 337,
"cds_start": 839,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648870.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.539_543delCTCCAinsGT",
"hgvs_p": "p.Thr180_Pro181delinsSer",
"transcript": "ENST00000648139.1",
"protein_id": "ENSP00000496818.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 317,
"cds_start": 539,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648139.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.566_570delCTCCAinsGT",
"hgvs_p": "p.Thr189_Pro190delinsSer",
"transcript": "NM_001410728.1",
"protein_id": "NP_001397657.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 312,
"cds_start": 566,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410728.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.566_570delCTCCAinsGT",
"hgvs_p": "p.Thr189_Pro190delinsSer",
"transcript": "ENST00000647654.1",
"protein_id": "ENSP00000497568.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 312,
"cds_start": 566,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647654.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "NM_001410729.1",
"protein_id": "NP_001397658.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 307,
"cds_start": 839,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410729.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.617_621delCTCCAinsGT",
"hgvs_p": "p.Thr206_Pro207delinsSer",
"transcript": "ENST00000881230.1",
"protein_id": "ENSP00000551289.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 303,
"cds_start": 617,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881230.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.584_588delCTCCAinsGT",
"hgvs_p": "p.Thr195_Pro196delinsSer",
"transcript": "ENST00000881227.1",
"protein_id": "ENSP00000551286.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 292,
"cds_start": 584,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881227.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.566_570delCTCCAinsGT",
"hgvs_p": "p.Thr189_Pro190delinsSer",
"transcript": "NM_001166418.2",
"protein_id": "NP_001159890.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 286,
"cds_start": 566,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166418.2"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.566_570delCTCCAinsGT",
"hgvs_p": "p.Thr189_Pro190delinsSer",
"transcript": "ENST00000373589.9",
"protein_id": "ENSP00000362691.4",
"transcript_support_level": 2,
"aa_start": 189,
"aa_end": null,
"aa_length": 286,
"cds_start": 566,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373589.9"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.566_570delCTCCAinsGT",
"hgvs_p": "p.Thr189_Pro190delinsSer",
"transcript": "ENST00000881226.1",
"protein_id": "ENSP00000551285.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 285,
"cds_start": 566,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881226.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.560_564delCTCCAinsGT",
"hgvs_p": "p.Thr187_Pro188delinsSer",
"transcript": "ENST00000881228.1",
"protein_id": "ENSP00000551287.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 284,
"cds_start": 560,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881228.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.539_543delCTCCAinsGT",
"hgvs_p": "p.Thr180_Pro181delinsSer",
"transcript": "NM_001441234.1",
"protein_id": "NP_001428163.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 277,
"cds_start": 539,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441234.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.539_543delCTCCAinsGT",
"hgvs_p": "p.Thr180_Pro181delinsSer",
"transcript": "ENST00000958736.1",
"protein_id": "ENSP00000628795.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 276,
"cds_start": 539,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958736.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.488_492delCTCCAinsGT",
"hgvs_p": "p.Thr163_Pro164delinsSer",
"transcript": "ENST00000958735.1",
"protein_id": "ENSP00000628794.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 260,
"cds_start": 488,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958735.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.566_570delCTCCAinsGT",
"hgvs_p": "p.Thr189_Pro190delinsSer",
"transcript": "ENST00000649752.1",
"protein_id": "ENSP00000497267.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 259,
"cds_start": 566,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649752.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.266_270delCTCCAinsGT",
"hgvs_p": "p.Thr89_Pro90delinsSer",
"transcript": "ENST00000650604.1",
"protein_id": "ENSP00000497105.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 186,
"cds_start": 266,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650604.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.236_240delCTCCAinsGT",
"hgvs_p": "p.Thr79_Pro80delinsSer",
"transcript": "ENST00000648459.1",
"protein_id": "ENSP00000498072.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 176,
"cds_start": 236,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648459.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.83_87delCTCCAinsGT",
"hgvs_p": "p.Thr28_Pro29delinsSer",
"transcript": "ENST00000648276.1",
"protein_id": "ENSP00000497619.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 167,
"cds_start": 83,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648276.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.761_765delCTCCAinsGT",
"hgvs_p": "p.Thr254_Pro255delinsSer",
"transcript": "XM_017029640.3",
"protein_id": "XP_016885129.2",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 377,
"cds_start": 761,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029640.3"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.539_543delCTCCAinsGT",
"hgvs_p": "p.Thr180_Pro181delinsSer",
"transcript": "XM_017029643.3",
"protein_id": "XP_016885132.2",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 303,
"cds_start": 539,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029643.3"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.488_492delCTCCAinsGT",
"hgvs_p": "p.Thr163_Pro164delinsSer",
"transcript": "XM_017029644.3",
"protein_id": "XP_016885133.2",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 286,
"cds_start": 488,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029644.3"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.488_492delCTCCAinsGT",
"hgvs_p": "p.Thr163_Pro164delinsSer",
"transcript": "XM_047442255.1",
"protein_id": "XP_047298211.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 260,
"cds_start": 488,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442255.1"
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.254_258delCTCCAinsGT",
"hgvs_p": "p.Thr85_Pro86delinsSer",
"transcript": "XM_047442257.1",
"protein_id": "XP_047298213.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 208,
"cds_start": 254,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442257.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.209+24303_209+24307delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000650076.1",
"protein_id": "ENSP00000497022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650076.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*94_*98delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000436675.6",
"protein_id": "ENSP00000416489.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000436675.6"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.925_929delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000478743.2",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000478743.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*400_*404delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000647606.1",
"protein_id": "ENSP00000497286.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000647606.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285547",
"gene_hgnc_id": null,
"hgvs_c": "n.*592_*596delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000647613.1",
"protein_id": "ENSP00000497911.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000647613.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.926_930delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000647641.1",
"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": "ENST00000647641.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.894_898delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000647718.1",
"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": "retained_intron",
"feature": "ENST00000647718.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.622_626delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000648285.1",
"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": "retained_intron",
"feature": "ENST00000648285.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.776_780delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000648504.1",
"protein_id": "ENSP00000497668.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000648504.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.464_468delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000648711.1",
"protein_id": "ENSP00000498040.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000648711.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*443_*447delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000648731.1",
"protein_id": "ENSP00000497907.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000648731.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.839_843delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000648834.1",
"protein_id": "ENSP00000497764.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000648834.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*443_*447delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000648850.1",
"protein_id": "ENSP00000497384.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000648850.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.763_767delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000648855.1",
"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": "retained_intron",
"feature": "ENST00000648855.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.839_843delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000648939.1",
"protein_id": "ENSP00000497442.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000648939.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.839_843delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000649097.1",
"protein_id": "ENSP00000497551.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000649097.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*396_*400delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000649116.1",
"protein_id": "ENSP00000497925.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000649116.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*201_*205delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000649181.1",
"protein_id": "ENSP00000498150.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000649181.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*443_*447delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000649242.1",
"protein_id": "ENSP00000497943.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000649242.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*702_*706delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000649274.1",
"protein_id": "ENSP00000497032.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000649274.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*443_*447delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000649518.1",
"protein_id": "ENSP00000498169.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000649518.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*443_*447delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000649543.1",
"protein_id": "ENSP00000496826.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000649543.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*283_*287delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000650471.1",
"protein_id": "ENSP00000498027.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000650471.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.779_783delCTCCAinsGT",
"hgvs_p": null,
"transcript": "NR_051952.2",
"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_051952.2"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.921_925delCTCCAinsGT",
"hgvs_p": null,
"transcript": "NR_199812.1",
"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_199812.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.921_925delCTCCAinsGT",
"hgvs_p": null,
"transcript": "NR_199813.1",
"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_199813.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.1107_1111delCTCCAinsGT",
"hgvs_p": null,
"transcript": "NR_199814.1",
"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_199814.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.790_794delCTCCAinsGT",
"hgvs_p": null,
"transcript": "NR_199815.1",
"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_199815.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*94_*98delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000436675.6",
"protein_id": "ENSP00000416489.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000436675.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*400_*404delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000647606.1",
"protein_id": "ENSP00000497286.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000647606.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285547",
"gene_hgnc_id": null,
"hgvs_c": "n.*592_*596delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000647613.1",
"protein_id": "ENSP00000497911.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000647613.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*443_*447delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000648731.1",
"protein_id": "ENSP00000497907.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000648731.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*443_*447delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000648850.1",
"protein_id": "ENSP00000497384.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000648850.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*396_*400delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000649116.1",
"protein_id": "ENSP00000497925.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000649116.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*201_*205delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000649181.1",
"protein_id": "ENSP00000498150.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000649181.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*443_*447delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000649242.1",
"protein_id": "ENSP00000497943.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000649242.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*702_*706delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000649274.1",
"protein_id": "ENSP00000497032.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000649274.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*443_*447delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000649518.1",
"protein_id": "ENSP00000498169.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000649518.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*443_*447delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000649543.1",
"protein_id": "ENSP00000496826.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000649543.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*283_*287delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000650471.1",
"protein_id": "ENSP00000498027.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000650471.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*537_*541delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000412342.6",
"protein_id": "ENSP00000400180.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000412342.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.-68_-64delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000470998.2",
"protein_id": "ENSP00000497317.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000470998.2"
}
],
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"dbsnp": "rs1057516037",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.368,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM4_Supporting,PP3,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PM4_Supporting",
"PP3",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001410725.1",
"gene_symbol": "HDAC8",
"hgnc_id": 13315,
"effects": [
"missense_variant",
"disruptive_inframe_deletion"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PM4_Supporting",
"PP3",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000648922.1",
"gene_symbol": "ENSG00000285547",
"hgnc_id": null,
"effects": [
"missense_variant",
"disruptive_inframe_deletion"
],
"inheritance_mode": "",
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer"
}
],
"clinvar_disease": "Cornelia de Lange syndrome 5",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Cornelia de Lange syndrome 5",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}