← 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: 1-7821174-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=7821174&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 7821174,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000377532.8",
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1957+534C>T",
"hgvs_p": null,
"transcript": "NM_001377275.1",
"protein_id": "NP_001364204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1210,
"cds_start": -4,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6365,
"mane_select": "ENST00000377532.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1957+534C>T",
"hgvs_p": null,
"transcript": "ENST00000377532.8",
"protein_id": "ENSP00000366755.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1210,
"cds_start": -4,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6365,
"mane_select": "NM_001377275.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1933+534C>T",
"hgvs_p": null,
"transcript": "ENST00000361923.2",
"protein_id": "ENSP00000355031.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1201,
"cds_start": -4,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1957+534C>T",
"hgvs_p": null,
"transcript": "ENST00000614998.4",
"protein_id": "ENSP00000479223.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": -4,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1957+534C>T",
"hgvs_p": null,
"transcript": "NM_001289862.2",
"protein_id": "NP_001276791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1210,
"cds_start": -4,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1957+534C>T",
"hgvs_p": null,
"transcript": "ENST00000613533.4",
"protein_id": "ENSP00000482093.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1210,
"cds_start": -4,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1954+534C>T",
"hgvs_p": null,
"transcript": "NM_001438696.1",
"protein_id": "NP_001425625.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1209,
"cds_start": -4,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1957+534C>T",
"hgvs_p": null,
"transcript": "NM_001438697.1",
"protein_id": "NP_001425626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1209,
"cds_start": -4,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1954+534C>T",
"hgvs_p": null,
"transcript": "NM_001438698.1",
"protein_id": "NP_001425627.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1208,
"cds_start": -4,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1936+534C>T",
"hgvs_p": null,
"transcript": "NM_001438700.1",
"protein_id": "NP_001425629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1203,
"cds_start": -4,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1957+534C>T",
"hgvs_p": null,
"transcript": "NM_001438701.1",
"protein_id": "NP_001425630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1203,
"cds_start": -4,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1936+534C>T",
"hgvs_p": null,
"transcript": "NM_001377276.1",
"protein_id": "NP_001364205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": -4,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1957+534C>T",
"hgvs_p": null,
"transcript": "NM_001438702.1",
"protein_id": "NP_001425631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": -4,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1933+534C>T",
"hgvs_p": null,
"transcript": "NM_016831.4",
"protein_id": "NP_058515.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1201,
"cds_start": -4,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1936+534C>T",
"hgvs_p": null,
"transcript": "NM_001438703.1",
"protein_id": "NP_001425632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1196,
"cds_start": -4,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1936+534C>T",
"hgvs_p": null,
"transcript": "NM_001438704.1",
"protein_id": "NP_001425633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1195,
"cds_start": -4,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1933+534C>T",
"hgvs_p": null,
"transcript": "NM_001438705.1",
"protein_id": "NP_001425634.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1195,
"cds_start": -4,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1933+534C>T",
"hgvs_p": null,
"transcript": "NM_001438706.1",
"protein_id": "NP_001425635.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1194,
"cds_start": -4,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1957+534C>T",
"hgvs_p": null,
"transcript": "NM_001289861.2",
"protein_id": "NP_001276790.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": -4,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1936+534C>T",
"hgvs_p": null,
"transcript": "NM_001289863.3",
"protein_id": "NP_001276792.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1184,
"cds_start": -4,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1000+534C>T",
"hgvs_p": null,
"transcript": "NM_001289864.3",
"protein_id": "NP_001276793.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": -4,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236266",
"gene_hgnc_id": null,
"hgvs_c": "n.239+5930G>A",
"hgvs_p": null,
"transcript": "ENST00000451646.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236266",
"gene_hgnc_id": null,
"hgvs_c": "n.226+5930G>A",
"hgvs_p": null,
"transcript": "ENST00000789962.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1957+534C>T",
"hgvs_p": null,
"transcript": "XM_047433434.1",
"protein_id": "XP_047289390.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1210,
"cds_start": -4,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1957+534C>T",
"hgvs_p": null,
"transcript": "XM_047433435.1",
"protein_id": "XP_047289391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1209,
"cds_start": -4,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1957+534C>T",
"hgvs_p": null,
"transcript": "XM_047433436.1",
"protein_id": "XP_047289392.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1209,
"cds_start": -4,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1954+534C>T",
"hgvs_p": null,
"transcript": "XM_047433437.1",
"protein_id": "XP_047289393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1209,
"cds_start": -4,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1954+534C>T",
"hgvs_p": null,
"transcript": "XM_047433438.1",
"protein_id": "XP_047289394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1209,
"cds_start": -4,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1957+534C>T",
"hgvs_p": null,
"transcript": "XM_047433439.1",
"protein_id": "XP_047289395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1209,
"cds_start": -4,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1954+534C>T",
"hgvs_p": null,
"transcript": "XM_017002724.3",
"protein_id": "XP_016858213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1208,
"cds_start": -4,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1954+534C>T",
"hgvs_p": null,
"transcript": "XM_047433440.1",
"protein_id": "XP_047289396.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1208,
"cds_start": -4,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1936+534C>T",
"hgvs_p": null,
"transcript": "XM_047433442.1",
"protein_id": "XP_047289398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1203,
"cds_start": -4,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1936+534C>T",
"hgvs_p": null,
"transcript": "XM_047433443.1",
"protein_id": "XP_047289399.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1203,
"cds_start": -4,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1936+534C>T",
"hgvs_p": null,
"transcript": "XM_047433444.1",
"protein_id": "XP_047289400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1203,
"cds_start": -4,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1957+534C>T",
"hgvs_p": null,
"transcript": "XM_047433445.1",
"protein_id": "XP_047289401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1203,
"cds_start": -4,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1933+534C>T",
"hgvs_p": null,
"transcript": "XM_017002726.3",
"protein_id": "XP_016858215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": -4,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1936+534C>T",
"hgvs_p": null,
"transcript": "XM_047433446.1",
"protein_id": "XP_047289402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": -4,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1936+534C>T",
"hgvs_p": null,
"transcript": "XM_047433447.1",
"protein_id": "XP_047289403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": -4,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1957+534C>T",
"hgvs_p": null,
"transcript": "XM_047433449.1",
"protein_id": "XP_047289405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": -4,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1933+534C>T",
"hgvs_p": null,
"transcript": "XM_047433451.1",
"protein_id": "XP_047289407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": -4,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1933+534C>T",
"hgvs_p": null,
"transcript": "XM_047433452.1",
"protein_id": "XP_047289408.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": -4,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1954+534C>T",
"hgvs_p": null,
"transcript": "XM_047433453.1",
"protein_id": "XP_047289409.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": -4,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1933+534C>T",
"hgvs_p": null,
"transcript": "XM_024450590.2",
"protein_id": "XP_024306358.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1201,
"cds_start": -4,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1933+534C>T",
"hgvs_p": null,
"transcript": "XM_047433454.1",
"protein_id": "XP_047289410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1201,
"cds_start": -4,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1933+534C>T",
"hgvs_p": null,
"transcript": "XM_047433455.1",
"protein_id": "XP_047289411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1201,
"cds_start": -4,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1936+534C>T",
"hgvs_p": null,
"transcript": "XM_047433457.1",
"protein_id": "XP_047289413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1196,
"cds_start": -4,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1936+534C>T",
"hgvs_p": null,
"transcript": "XM_047433459.1",
"protein_id": "XP_047289415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1195,
"cds_start": -4,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1936+534C>T",
"hgvs_p": null,
"transcript": "XM_047433466.1",
"protein_id": "XP_047289422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1195,
"cds_start": -4,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1933+534C>T",
"hgvs_p": null,
"transcript": "XM_047433473.1",
"protein_id": "XP_047289429.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1194,
"cds_start": -4,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1789+534C>T",
"hgvs_p": null,
"transcript": "XM_047433474.1",
"protein_id": "XP_047289430.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1154,
"cds_start": -4,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1609+534C>T",
"hgvs_p": null,
"transcript": "XM_047433475.1",
"protein_id": "XP_047289431.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1094,
"cds_start": -4,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1606+534C>T",
"hgvs_p": null,
"transcript": "XM_017002729.2",
"protein_id": "XP_016858218.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1093,
"cds_start": -4,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.1432+534C>T",
"hgvs_p": null,
"transcript": "XM_047433476.1",
"protein_id": "XP_047289432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": -4,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124903833",
"gene_hgnc_id": null,
"hgvs_c": "n.72+5873G>A",
"hgvs_p": null,
"transcript": "XR_007065450.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"dbsnp": "rs17374292",
"frequency_reference_population": 0.14377432,
"hom_count_reference_population": 1817,
"allele_count_reference_population": 21879,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.143774,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 21879,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1817,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.155,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000377532.8",
"gene_symbol": "PER3",
"hgnc_id": 8847,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1957+534C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000451646.1",
"gene_symbol": "ENSG00000236266",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.239+5930G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007065450.1",
"gene_symbol": "LOC124903833",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.72+5873G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}