← 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: 2-239053479-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=239053479&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 239053479,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001378414.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3211G>T",
"hgvs_p": "p.Val1071Leu",
"transcript": "NM_001378414.1",
"protein_id": "NP_001365343.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1089,
"cds_start": 3211,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000543185.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378414.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3211G>T",
"hgvs_p": "p.Val1071Leu",
"transcript": "ENST00000543185.6",
"protein_id": "ENSP00000440481.3",
"transcript_support_level": 5,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1089,
"cds_start": 3211,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378414.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543185.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3196G>T",
"hgvs_p": "p.Val1066Leu",
"transcript": "ENST00000345617.7",
"protein_id": "ENSP00000264606.3",
"transcript_support_level": 1,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345617.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3211G>T",
"hgvs_p": "p.Val1071Leu",
"transcript": "NM_001378415.1",
"protein_id": "NP_001365344.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1089,
"cds_start": 3211,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378415.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3211G>T",
"hgvs_p": "p.Val1071Leu",
"transcript": "ENST00000896768.1",
"protein_id": "ENSP00000566827.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1089,
"cds_start": 3211,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896768.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3211G>T",
"hgvs_p": "p.Val1071Leu",
"transcript": "ENST00000913664.1",
"protein_id": "ENSP00000583723.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1089,
"cds_start": 3211,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913664.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3211G>T",
"hgvs_p": "p.Val1071Leu",
"transcript": "ENST00000913672.1",
"protein_id": "ENSP00000583731.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1089,
"cds_start": 3211,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913672.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3205G>T",
"hgvs_p": "p.Val1069Leu",
"transcript": "ENST00000913671.1",
"protein_id": "ENSP00000583730.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1087,
"cds_start": 3205,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913671.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3205G>T",
"hgvs_p": "p.Val1069Leu",
"transcript": "ENST00000971555.1",
"protein_id": "ENSP00000641614.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1087,
"cds_start": 3205,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971555.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3196G>T",
"hgvs_p": "p.Val1066Leu",
"transcript": "NM_001378416.1",
"protein_id": "NP_001365345.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378416.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3196G>T",
"hgvs_p": "p.Val1066Leu",
"transcript": "NM_001378417.1",
"protein_id": "NP_001365346.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378417.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3196G>T",
"hgvs_p": "p.Val1066Leu",
"transcript": "NM_006037.4",
"protein_id": "NP_006028.2",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006037.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3196G>T",
"hgvs_p": "p.Val1066Leu",
"transcript": "ENST00000896770.1",
"protein_id": "ENSP00000566829.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896770.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3196G>T",
"hgvs_p": "p.Val1066Leu",
"transcript": "ENST00000896771.1",
"protein_id": "ENSP00000566830.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896771.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3196G>T",
"hgvs_p": "p.Val1066Leu",
"transcript": "ENST00000913662.1",
"protein_id": "ENSP00000583721.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913662.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3196G>T",
"hgvs_p": "p.Val1066Leu",
"transcript": "ENST00000913665.1",
"protein_id": "ENSP00000583724.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913665.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3196G>T",
"hgvs_p": "p.Val1066Leu",
"transcript": "ENST00000913673.1",
"protein_id": "ENSP00000583732.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913673.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3181G>T",
"hgvs_p": "p.Val1061Leu",
"transcript": "ENST00000896769.1",
"protein_id": "ENSP00000566828.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1079,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896769.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3133G>T",
"hgvs_p": "p.Val1045Leu",
"transcript": "ENST00000913667.1",
"protein_id": "ENSP00000583726.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1063,
"cds_start": 3133,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913667.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3130G>T",
"hgvs_p": "p.Val1044Leu",
"transcript": "NM_001435991.1",
"protein_id": "NP_001422920.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1062,
"cds_start": 3130,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001435991.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3130G>T",
"hgvs_p": "p.Val1044Leu",
"transcript": "NM_001435992.1",
"protein_id": "NP_001422921.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1062,
"cds_start": 3130,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001435992.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3124G>T",
"hgvs_p": "p.Val1042Leu",
"transcript": "ENST00000913666.1",
"protein_id": "ENSP00000583725.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1060,
"cds_start": 3124,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913666.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3088G>T",
"hgvs_p": "p.Val1030Leu",
"transcript": "ENST00000913668.1",
"protein_id": "ENSP00000583727.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1048,
"cds_start": 3088,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913668.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3079G>T",
"hgvs_p": "p.Val1027Leu",
"transcript": "ENST00000913669.1",
"protein_id": "ENSP00000583728.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1045,
"cds_start": 3079,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913669.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3079G>T",
"hgvs_p": "p.Val1027Leu",
"transcript": "ENST00000913670.1",
"protein_id": "ENSP00000583729.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1045,
"cds_start": 3079,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913670.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3052G>T",
"hgvs_p": "p.Val1018Leu",
"transcript": "NM_001435993.1",
"protein_id": "NP_001422922.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1036,
"cds_start": 3052,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001435993.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3049G>T",
"hgvs_p": "p.Val1017Leu",
"transcript": "ENST00000913663.1",
"protein_id": "ENSP00000583722.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1035,
"cds_start": 3049,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913663.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.466G>T",
"hgvs_p": "p.Val156Leu",
"transcript": "ENST00000430200.1",
"protein_id": "ENSP00000410551.1",
"transcript_support_level": 3,
"aa_start": 156,
"aa_end": null,
"aa_length": 174,
"cds_start": 466,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430200.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3283G>T",
"hgvs_p": "p.Val1095Leu",
"transcript": "XM_011512217.3",
"protein_id": "XP_011510519.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1113,
"cds_start": 3283,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512217.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3268G>T",
"hgvs_p": "p.Val1090Leu",
"transcript": "XM_006712877.4",
"protein_id": "XP_006712940.1",
"transcript_support_level": null,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1108,
"cds_start": 3268,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712877.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3268G>T",
"hgvs_p": "p.Val1090Leu",
"transcript": "XM_011512218.3",
"protein_id": "XP_011510520.1",
"transcript_support_level": null,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1108,
"cds_start": 3268,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512218.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3253G>T",
"hgvs_p": "p.Val1085Leu",
"transcript": "XM_011512219.3",
"protein_id": "XP_011510521.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1103,
"cds_start": 3253,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512219.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3214G>T",
"hgvs_p": "p.Val1072Leu",
"transcript": "XM_011512220.3",
"protein_id": "XP_011510522.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1090,
"cds_start": 3214,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512220.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3211G>T",
"hgvs_p": "p.Val1071Leu",
"transcript": "XM_011512222.4",
"protein_id": "XP_011510524.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1089,
"cds_start": 3211,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512222.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3211G>T",
"hgvs_p": "p.Val1071Leu",
"transcript": "XM_011512223.3",
"protein_id": "XP_011510525.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1089,
"cds_start": 3211,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512223.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3211G>T",
"hgvs_p": "p.Val1071Leu",
"transcript": "XM_047446476.1",
"protein_id": "XP_047302432.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1089,
"cds_start": 3211,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446476.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3199G>T",
"hgvs_p": "p.Val1067Leu",
"transcript": "XM_047446477.1",
"protein_id": "XP_047302433.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1085,
"cds_start": 3199,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446477.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3199G>T",
"hgvs_p": "p.Val1067Leu",
"transcript": "XM_047446478.1",
"protein_id": "XP_047302434.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1085,
"cds_start": 3199,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446478.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3196G>T",
"hgvs_p": "p.Val1066Leu",
"transcript": "XM_011512224.3",
"protein_id": "XP_011510526.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512224.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3196G>T",
"hgvs_p": "p.Val1066Leu",
"transcript": "XM_047446479.1",
"protein_id": "XP_047302435.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446479.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3196G>T",
"hgvs_p": "p.Val1066Leu",
"transcript": "XM_047446480.1",
"protein_id": "XP_047302436.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446480.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3184G>T",
"hgvs_p": "p.Val1062Leu",
"transcript": "XM_047446481.1",
"protein_id": "XP_047302437.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1080,
"cds_start": 3184,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446481.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3181G>T",
"hgvs_p": "p.Val1061Leu",
"transcript": "XM_011512225.3",
"protein_id": "XP_011510527.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1079,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512225.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3181G>T",
"hgvs_p": "p.Val1061Leu",
"transcript": "XM_047446482.1",
"protein_id": "XP_047302438.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1079,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446482.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3181G>T",
"hgvs_p": "p.Val1061Leu",
"transcript": "XM_047446483.1",
"protein_id": "XP_047302439.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1079,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446483.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3181G>T",
"hgvs_p": "p.Val1061Leu",
"transcript": "XM_047446484.1",
"protein_id": "XP_047302440.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1079,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446484.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3181G>T",
"hgvs_p": "p.Val1061Leu",
"transcript": "XM_047446485.1",
"protein_id": "XP_047302441.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1079,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446485.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3151G>T",
"hgvs_p": "p.Val1051Leu",
"transcript": "XM_017005394.2",
"protein_id": "XP_016860883.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3151,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005394.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3139G>T",
"hgvs_p": "p.Val1047Leu",
"transcript": "XM_011512226.3",
"protein_id": "XP_011510528.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1065,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512226.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3139G>T",
"hgvs_p": "p.Val1047Leu",
"transcript": "XM_047446486.1",
"protein_id": "XP_047302442.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1065,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446486.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3136G>T",
"hgvs_p": "p.Val1046Leu",
"transcript": "XM_047446487.1",
"protein_id": "XP_047302443.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1064,
"cds_start": 3136,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446487.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3130G>T",
"hgvs_p": "p.Val1044Leu",
"transcript": "XM_006712880.4",
"protein_id": "XP_006712943.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1062,
"cds_start": 3130,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712880.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3124G>T",
"hgvs_p": "p.Val1042Leu",
"transcript": "XM_047446489.1",
"protein_id": "XP_047302445.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1060,
"cds_start": 3124,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446489.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3124G>T",
"hgvs_p": "p.Val1042Leu",
"transcript": "XM_047446490.1",
"protein_id": "XP_047302446.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1060,
"cds_start": 3124,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446490.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3109G>T",
"hgvs_p": "p.Val1037Leu",
"transcript": "XM_047446491.1",
"protein_id": "XP_047302447.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1055,
"cds_start": 3109,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446491.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3079G>T",
"hgvs_p": "p.Val1027Leu",
"transcript": "XM_047446492.1",
"protein_id": "XP_047302448.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1045,
"cds_start": 3079,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446492.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3067G>T",
"hgvs_p": "p.Val1023Leu",
"transcript": "XM_011512227.3",
"protein_id": "XP_011510529.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1041,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512227.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3064G>T",
"hgvs_p": "p.Val1022Leu",
"transcript": "XM_047446493.1",
"protein_id": "XP_047302449.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1040,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446493.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3064G>T",
"hgvs_p": "p.Val1022Leu",
"transcript": "XM_047446494.1",
"protein_id": "XP_047302450.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1040,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446494.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3064G>T",
"hgvs_p": "p.Val1022Leu",
"transcript": "XM_047446495.1",
"protein_id": "XP_047302451.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1040,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446495.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3049G>T",
"hgvs_p": "p.Val1017Leu",
"transcript": "XM_047446496.1",
"protein_id": "XP_047302452.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1035,
"cds_start": 3049,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446496.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.3049G>T",
"hgvs_p": "p.Val1017Leu",
"transcript": "XM_047446497.1",
"protein_id": "XP_047302453.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1035,
"cds_start": 3049,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446497.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.2992G>T",
"hgvs_p": "p.Val998Leu",
"transcript": "XM_047446498.1",
"protein_id": "XP_047302454.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2992,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446498.1"
},
{
"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": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "n.1225G>T",
"hgvs_p": null,
"transcript": "ENST00000690129.1",
"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": "ENST00000690129.1"
}
],
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"dbsnp": "rs766000387",
"frequency_reference_population": 6.844711e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84471e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36388134956359863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.2362,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.789,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001378414.1",
"gene_symbol": "HDAC4",
"hgnc_id": 14063,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.3211G>T",
"hgvs_p": "p.Val1071Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}