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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: 17-35148131-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35148131&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 35148131,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001033576.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.1-133G>A",
"hgvs_p": null,
"transcript": "NM_001267052.2",
"protein_id": "NP_001253981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": null,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394570.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267052.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.1-133G>A",
"hgvs_p": null,
"transcript": "ENST00000394570.7",
"protein_id": "ENSP00000378071.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": null,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001267052.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394570.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.-133G>A",
"hgvs_p": null,
"transcript": "ENST00000958208.1",
"protein_id": "ENSP00000628267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": null,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958208.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.1-133G>A",
"hgvs_p": null,
"transcript": "ENST00000870786.1",
"protein_id": "ENSP00000540845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 968,
"cds_start": null,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870786.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.-3-130G>A",
"hgvs_p": null,
"transcript": "ENST00000268876.9",
"protein_id": "ENSP00000268876.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 931,
"cds_start": null,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268876.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.-3-130G>A",
"hgvs_p": null,
"transcript": "NM_001033576.2",
"protein_id": "NP_001028748.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": null,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033576.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.-3-130G>A",
"hgvs_p": null,
"transcript": "ENST00000870785.1",
"protein_id": "ENSP00000540844.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": null,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870785.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.1-133G>A",
"hgvs_p": null,
"transcript": "ENST00000958206.1",
"protein_id": "ENSP00000628265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": null,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958206.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.-1+92G>A",
"hgvs_p": null,
"transcript": "ENST00000958219.1",
"protein_id": "ENSP00000628278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": null,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958219.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.-20-113G>A",
"hgvs_p": null,
"transcript": "ENST00000958221.1",
"protein_id": "ENSP00000628280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": null,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958221.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.1-133G>A",
"hgvs_p": null,
"transcript": "ENST00000958209.1",
"protein_id": "ENSP00000628268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": null,
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"cds_length": 2787,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958209.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.1-133G>A",
"hgvs_p": null,
"transcript": "ENST00000958212.1",
"protein_id": "ENSP00000628271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": null,
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"cds_length": 2787,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958212.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.-3-130G>A",
"hgvs_p": null,
"transcript": "ENST00000958214.1",
"protein_id": "ENSP00000628273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958214.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
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"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.-3-130G>A",
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"transcript": "ENST00000958218.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000958218.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.-3-130G>A",
"hgvs_p": null,
"transcript": "ENST00000958216.1",
"protein_id": "ENSP00000628275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958216.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.1-133G>A",
"hgvs_p": null,
"transcript": "ENST00000870787.1",
"protein_id": "ENSP00000540846.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870787.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.-3-130G>A",
"hgvs_p": null,
"transcript": "ENST00000958207.1",
"protein_id": "ENSP00000628266.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000958207.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.1-133G>A",
"hgvs_p": null,
"transcript": "ENST00000958213.1",
"protein_id": "ENSP00000628272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": null,
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"cds_length": 2595,
"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958213.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
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"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.1-133G>A",
"hgvs_p": null,
"transcript": "ENST00000958210.1",
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"feature": "ENST00000958210.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.-3-130G>A",
"hgvs_p": null,
"transcript": "ENST00000958211.1",
"protein_id": "ENSP00000628270.1",
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"biotype": "protein_coding",
"feature": "ENST00000958211.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.1-133G>A",
"hgvs_p": null,
"transcript": "ENST00000958217.1",
"protein_id": "ENSP00000628276.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 797,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958217.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.1-133G>A",
"hgvs_p": null,
"transcript": "ENST00000958220.1",
"protein_id": "ENSP00000628279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 793,
"cds_start": null,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958220.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
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"biotype": "protein_coding",
"feature": "ENST00000958215.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 1,
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"gene_symbol": "UNC45B",
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"hgvs_c": "c.1-133G>A",
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"transcript": "XM_017024234.2",
"protein_id": "XP_016879723.1",
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"biotype": "protein_coding",
"feature": "XM_017024234.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 17,
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"gene_symbol": "UNC45B",
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"transcript": "ENST00000591048.2",
"protein_id": "ENSP00000468335.1",
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"biotype": "protein_coding",
"feature": "ENST00000591048.2"
},
{
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"protein_coding": true,
"strand": true,
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"upstream_gene_variant"
],
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"exon_count": 19,
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"gene_symbol": "UNC45B",
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"hgvs_c": "c.-133G>A",
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"transcript": "NM_173167.3",
"protein_id": "NP_775259.1",
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"biotype": "protein_coding",
"feature": "NM_173167.3"
},
{
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"protein_coding": true,
"strand": true,
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"upstream_gene_variant"
],
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"exon_count": 17,
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"gene_symbol": "UNC45B",
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"hgvs_c": "c.-133G>A",
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"transcript": "NM_001308281.1",
"protein_id": "NP_001295210.1",
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"aa_length": 850,
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"cdna_start": null,
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"cdna_length": null,
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"biotype": "protein_coding",
"feature": "NM_001308281.1"
}
],
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"dbsnp": "rs75935417",
"frequency_reference_population": 0.0046293475,
"hom_count_reference_population": 72,
"allele_count_reference_population": 4561,
"gnomad_exomes_af": 0.00356309,
"gnomad_genomes_af": 0.0104631,
"gnomad_exomes_ac": 2968,
"gnomad_genomes_ac": 1593,
"gnomad_exomes_homalt": 41,
"gnomad_genomes_homalt": 31,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.256,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001033576.2",
"gene_symbol": "UNC45B",
"hgnc_id": 14304,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.-3-130G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}