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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-13504516-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=13504516&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 13504516,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024827.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Arg293Trp",
"transcript": "NM_024827.4",
"protein_id": "NP_079103.2",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 347,
"cds_start": 877,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295757.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024827.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Arg293Trp",
"transcript": "ENST00000295757.8",
"protein_id": "ENSP00000295757.3",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 347,
"cds_start": 877,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024827.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295757.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Trp",
"transcript": "ENST00000437379.2",
"protein_id": "ENSP00000395188.2",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 319,
"cds_start": 793,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437379.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.*39C>T",
"hgvs_p": null,
"transcript": "ENST00000433119.5",
"protein_id": "ENSP00000412514.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": null,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433119.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.952C>T",
"hgvs_p": "p.Arg318Trp",
"transcript": "ENST00000861271.1",
"protein_id": "ENSP00000531330.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 372,
"cds_start": 952,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861271.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Arg316Trp",
"transcript": "ENST00000861272.1",
"protein_id": "ENSP00000531331.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 370,
"cds_start": 946,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861272.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Arg314Trp",
"transcript": "ENST00000967010.1",
"protein_id": "ENSP00000637069.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 368,
"cds_start": 940,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967010.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Trp",
"transcript": "ENST00000861269.1",
"protein_id": "ENSP00000531328.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 346,
"cds_start": 874,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861269.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271Trp",
"transcript": "ENST00000861270.1",
"protein_id": "ENSP00000531329.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 325,
"cds_start": 811,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861270.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.760C>T",
"hgvs_p": "p.Arg254Trp",
"transcript": "ENST00000861268.1",
"protein_id": "ENSP00000531327.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 308,
"cds_start": 760,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861268.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242Trp",
"transcript": "NM_001136041.3",
"protein_id": "NP_001129513.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 296,
"cds_start": 724,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136041.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242Trp",
"transcript": "ENST00000522202.5",
"protein_id": "ENSP00000429794.1",
"transcript_support_level": 2,
"aa_start": 242,
"aa_end": null,
"aa_length": 296,
"cds_start": 724,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522202.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Arg232Trp",
"transcript": "ENST00000861266.1",
"protein_id": "ENSP00000531325.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 286,
"cds_start": 694,
"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": "ENST00000861266.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "NM_001330636.2",
"protein_id": "NP_001317565.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 268,
"cds_start": 640,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330636.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "ENST00000402271.5",
"protein_id": "ENSP00000384123.1",
"transcript_support_level": 3,
"aa_start": 214,
"aa_end": null,
"aa_length": 268,
"cds_start": 640,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402271.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "ENST00000861267.1",
"protein_id": "ENSP00000531326.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 268,
"cds_start": 640,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861267.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"transcript": "ENST00000967009.1",
"protein_id": "ENSP00000637068.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 267,
"cds_start": 637,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967009.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"transcript": "ENST00000404040.5",
"protein_id": "ENSP00000385475.1",
"transcript_support_level": 3,
"aa_start": 193,
"aa_end": null,
"aa_length": 247,
"cds_start": 577,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404040.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Trp",
"transcript": "ENST00000402259.5",
"protein_id": "ENSP00000384706.1",
"transcript_support_level": 3,
"aa_start": 127,
"aa_end": null,
"aa_length": 181,
"cds_start": 379,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402259.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.*39C>T",
"hgvs_p": null,
"transcript": "ENST00000446613.6",
"protein_id": "ENSP00000401487.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": null,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446613.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.*39C>T",
"hgvs_p": null,
"transcript": "ENST00000404548.5",
"protein_id": "ENSP00000385528.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": null,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404548.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.*39C>T",
"hgvs_p": null,
"transcript": "ENST00000405025.5",
"protein_id": "ENSP00000384019.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": null,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405025.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"biotype": "pseudogene",
"feature": "ENST00000752926.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
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"biotype": "pseudogene",
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},
{
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"canonical": false,
"protein_coding": false,
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"intron_variant"
],
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000298100",
"gene_hgnc_id": null,
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"feature": "ENST00000752928.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ENSG00000298100",
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"hgvs_c": "n.605-370G>A",
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"transcript": "ENST00000752929.1",
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"feature": "ENST00000752929.1"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"hgvs_c": "n.452-400G>A",
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"biotype": "pseudogene",
"feature": "ENST00000752930.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000298100",
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"hgvs_c": "n.146-400G>A",
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"transcript": "ENST00000752931.1",
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"aa_length": null,
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"biotype": "pseudogene",
"feature": "ENST00000752931.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000298100",
"gene_hgnc_id": null,
"hgvs_c": "n.166-370G>A",
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"transcript": "ENST00000752932.1",
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"transcript_support_level": null,
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"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": "ENST00000752932.1"
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],
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"dbsnp": "rs754241315",
"frequency_reference_population": 0.000024172195,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000239528,
"gnomad_genomes_af": 0.0000262781,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28833824396133423,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.27,
"revel_prediction": "Benign",
"alphamissense_score": 0.1744,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.578,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 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_024827.4",
"gene_symbol": "HDAC11",
"hgnc_id": 19086,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Arg293Trp"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000752926.1",
"gene_symbol": "ENSG00000298100",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.523-370G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}