← 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: 4-1641346-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1641346&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1641346,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001013622.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Ile",
"transcript": "NM_001174070.3",
"protein_id": "NP_001167541.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 398,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308132.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174070.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Ile",
"transcript": "ENST00000308132.11",
"protein_id": "ENSP00000310057.6",
"transcript_support_level": 2,
"aa_start": 382,
"aa_end": null,
"aa_length": 398,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001174070.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308132.11"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Ile",
"transcript": "ENST00000472884.6",
"protein_id": "ENSP00000426260.1",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 398,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472884.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Ile",
"transcript": "NM_001013622.3",
"protein_id": "NP_001013644.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 398,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013622.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Ile",
"transcript": "ENST00000461064.5",
"protein_id": "ENSP00000418243.1",
"transcript_support_level": 2,
"aa_start": 382,
"aa_end": null,
"aa_length": 398,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461064.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Ile",
"transcript": "XM_011513402.3",
"protein_id": "XP_011511704.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 398,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513402.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Ile",
"transcript": "XM_047449654.1",
"protein_id": "XP_047305610.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 398,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449654.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Ile",
"transcript": "XM_047449655.1",
"protein_id": "XP_047305611.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 398,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449655.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Ile",
"transcript": "XM_047449656.1",
"protein_id": "XP_047305612.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 398,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449656.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Ile",
"transcript": "XM_047449657.1",
"protein_id": "XP_047305613.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 398,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449657.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Ile",
"transcript": "XM_047449658.1",
"protein_id": "XP_047305614.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 398,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449658.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Ile",
"transcript": "XM_047449659.1",
"protein_id": "XP_047305615.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 398,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449659.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Ile",
"transcript": "XM_047449660.1",
"protein_id": "XP_047305616.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 398,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449660.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Ile",
"transcript": "XM_047449661.1",
"protein_id": "XP_047305617.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 398,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449661.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Ile",
"transcript": "XM_047449662.1",
"protein_id": "XP_047305618.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 398,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449662.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.*215G>A",
"hgvs_p": null,
"transcript": "NM_001297435.1",
"protein_id": "NP_001284364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297435.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.*215G>A",
"hgvs_p": null,
"transcript": "ENST00000489363.5",
"protein_id": "ENSP00000419044.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489363.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.*215G>A",
"hgvs_p": null,
"transcript": "XM_047449663.1",
"protein_id": "XP_047305619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449663.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.*215G>A",
"hgvs_p": null,
"transcript": "XM_047449664.1",
"protein_id": "XP_047305620.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449664.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.*215G>A",
"hgvs_p": null,
"transcript": "XM_047449665.1",
"protein_id": "XP_047305621.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449665.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.429+13632G>A",
"hgvs_p": null,
"transcript": "ENST00000489029.1",
"protein_id": "ENSP00000423987.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": null,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489029.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.1036+2843G>A",
"hgvs_p": null,
"transcript": "XM_024453912.2",
"protein_id": "XP_024309680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453912.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.1036+2843G>A",
"hgvs_p": null,
"transcript": "XM_047449666.1",
"protein_id": "XP_047305622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449666.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.882+13632G>A",
"hgvs_p": null,
"transcript": "XM_047449667.1",
"protein_id": "XP_047305623.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": null,
"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": "XM_047449667.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.882+13632G>A",
"hgvs_p": null,
"transcript": "XM_011513405.2",
"protein_id": "XP_011511707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": null,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513405.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.882+13632G>A",
"hgvs_p": null,
"transcript": "XM_047449668.1",
"protein_id": "XP_047305624.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": null,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449668.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.882+13632G>A",
"hgvs_p": null,
"transcript": "XM_047449669.1",
"protein_id": "XP_047305625.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": null,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449669.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.882+13632G>A",
"hgvs_p": null,
"transcript": "XM_047449670.1",
"protein_id": "XP_047305626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": null,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449670.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "c.882+13632G>A",
"hgvs_p": null,
"transcript": "XM_047449671.1",
"protein_id": "XP_047305627.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": null,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449671.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "n.2217G>A",
"hgvs_p": null,
"transcript": "XR_007096374.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007096374.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "n.2217G>A",
"hgvs_p": null,
"transcript": "XR_924913.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_924913.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"hgvs_c": "n.*216G>A",
"hgvs_p": null,
"transcript": "ENST00000467215.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000467215.1"
}
],
"gene_symbol": "FAM53A",
"gene_hgnc_id": 31860,
"dbsnp": "rs779785935",
"frequency_reference_population": 0.000009310132,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000822604,
"gnomad_genomes_af": 0.0000196894,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.016709446907043457,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": 0.075,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.489,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001013622.3",
"gene_symbol": "FAM53A",
"hgnc_id": 31860,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}