← 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: 21-39420726-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=39420726&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 39420726,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000288350.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.His319Asn",
"transcript": "NM_152505.4",
"protein_id": "NP_689718.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 955,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 2533,
"mane_select": "ENST00000288350.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.His319Asn",
"transcript": "ENST00000288350.8",
"protein_id": "ENSP00000288350.3",
"transcript_support_level": 5,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 955,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 2533,
"mane_select": "NM_152505.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.His319Asn",
"transcript": "ENST00000358268.6",
"protein_id": "ENSP00000351008.2",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 955,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 2564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.His319Asn",
"transcript": "ENST00000380671.6",
"protein_id": "ENSP00000370046.2",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 955,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GET1-SH3BGR",
"gene_hgnc_id": 54635,
"hgvs_c": "c.336+28890G>T",
"hgvs_p": null,
"transcript": "ENST00000647779.1",
"protein_id": "ENSP00000497977.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.His319Asn",
"transcript": "NM_001384285.1",
"protein_id": "NP_001371214.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 955,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.His319Asn",
"transcript": "NM_001384286.1",
"protein_id": "NP_001371215.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 955,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.His319Asn",
"transcript": "NM_001384287.1",
"protein_id": "NP_001371216.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 955,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 2435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.His319Asn",
"transcript": "NM_001384288.1",
"protein_id": "NP_001371217.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 955,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.His319Asn",
"transcript": "NM_001384289.1",
"protein_id": "NP_001371218.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 955,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.His319Asn",
"transcript": "NM_001384291.1",
"protein_id": "NP_001371220.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 955,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.565C>A",
"hgvs_p": "p.His189Asn",
"transcript": "NM_001384292.1",
"protein_id": "NP_001371221.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 540,
"cds_start": 565,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.565C>A",
"hgvs_p": "p.His189Asn",
"transcript": "NM_001384293.1",
"protein_id": "NP_001371222.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 540,
"cds_start": 565,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.565C>A",
"hgvs_p": "p.His189Asn",
"transcript": "NM_001384294.1",
"protein_id": "NP_001371223.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 540,
"cds_start": 565,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.565C>A",
"hgvs_p": "p.His189Asn",
"transcript": "NM_001384295.1",
"protein_id": "NP_001371224.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 540,
"cds_start": 565,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.565C>A",
"hgvs_p": "p.His189Asn",
"transcript": "NM_001384296.1",
"protein_id": "NP_001371225.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 540,
"cds_start": 565,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 2134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.565C>A",
"hgvs_p": "p.His189Asn",
"transcript": "NM_001384303.1",
"protein_id": "NP_001371232.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 275,
"cds_start": 565,
"cds_end": null,
"cds_length": 828,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_011529458.2",
"protein_id": "XP_011527760.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1926,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_011529459.2",
"protein_id": "XP_011527761.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_011529460.2",
"protein_id": "XP_011527762.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_011529461.2",
"protein_id": "XP_011527763.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 2972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_011529462.2",
"protein_id": "XP_011527764.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 2613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_011529463.3",
"protein_id": "XP_011527765.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 2888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_011529464.2",
"protein_id": "XP_011527766.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_011529465.2",
"protein_id": "XP_011527767.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_011529466.2",
"protein_id": "XP_011527768.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_011529467.2",
"protein_id": "XP_011527769.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1672,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_011529468.2",
"protein_id": "XP_011527770.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_011529470.2",
"protein_id": "XP_011527772.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_047440684.1",
"protein_id": "XP_047296640.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 2863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_047440685.1",
"protein_id": "XP_047296641.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 2832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_047440686.1",
"protein_id": "XP_047296642.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_047440687.1",
"protein_id": "XP_047296643.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 2965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_047440688.1",
"protein_id": "XP_047296644.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 2028,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_047440689.1",
"protein_id": "XP_047296645.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_047440690.1",
"protein_id": "XP_047296646.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_047440691.1",
"protein_id": "XP_047296647.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 3209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_047440692.1",
"protein_id": "XP_047296648.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_047440693.1",
"protein_id": "XP_047296649.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 3107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1102C>A",
"hgvs_p": "p.His368Asn",
"transcript": "XM_047440694.1",
"protein_id": "XP_047296650.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.His319Asn",
"transcript": "XM_047440696.1",
"protein_id": "XP_047296652.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 955,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.His319Asn",
"transcript": "XM_047440697.1",
"protein_id": "XP_047296653.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 955,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.565C>A",
"hgvs_p": "p.His189Asn",
"transcript": "XM_017028274.2",
"protein_id": "XP_016883763.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 540,
"cds_start": 565,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "n.570C>A",
"hgvs_p": null,
"transcript": "ENST00000484878.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 675,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GET1-SH3BGR",
"gene_hgnc_id": 54635,
"hgvs_c": "c.336+28890G>T",
"hgvs_p": null,
"transcript": "NM_001317744.2",
"protein_id": "NP_001304673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1332,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GET1-SH3BGR",
"gene_hgnc_id": 54635,
"hgvs_c": "c.336+28890G>T",
"hgvs_p": null,
"transcript": "NM_001350300.2",
"protein_id": "NP_001337229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": -4,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1172,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GET1",
"gene_hgnc_id": 12790,
"hgvs_c": "c.*24-7506G>T",
"hgvs_p": null,
"transcript": "ENST00000478273.5",
"protein_id": "ENSP00000485087.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 14,
"cds_start": -4,
"cds_end": null,
"cds_length": 45,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GET1",
"gene_hgnc_id": 12790,
"hgvs_c": "n.*1402-5034G>T",
"hgvs_p": null,
"transcript": "ENST00000647911.1",
"protein_id": "ENSP00000497171.1",
"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": 2255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GET1-SH3BGR",
"gene_hgnc_id": 54635,
"hgvs_c": "n.*339-5034G>T",
"hgvs_p": null,
"transcript": "ENST00000648253.1",
"protein_id": "ENSP00000497295.1",
"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": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GET1",
"gene_hgnc_id": 12790,
"hgvs_c": "n.1588-5034G>T",
"hgvs_p": null,
"transcript": "ENST00000648495.1",
"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": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GET1",
"gene_hgnc_id": 12790,
"hgvs_c": "n.*1193-5034G>T",
"hgvs_p": null,
"transcript": "ENST00000649499.1",
"protein_id": "ENSP00000497593.1",
"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": 2029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GET1",
"gene_hgnc_id": 12790,
"hgvs_c": "n.554-5034G>T",
"hgvs_p": null,
"transcript": "ENST00000650208.1",
"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": 923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GET1",
"gene_hgnc_id": 12790,
"hgvs_c": "n.1249-5034G>T",
"hgvs_p": null,
"transcript": "NR_146615.2",
"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": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GET1-SH3BGR",
"gene_hgnc_id": 54635,
"hgvs_c": "n.920-5034G>T",
"hgvs_p": null,
"transcript": "NR_146618.2",
"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": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.984+2250C>A",
"hgvs_p": null,
"transcript": "XM_047440695.1",
"protein_id": "XP_047296651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"dbsnp": "rs1014658337",
"frequency_reference_population": 6.849071e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84907e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09921598434448242,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.166,
"revel_prediction": "Benign",
"alphamissense_score": 0.0943,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.579,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000288350.8",
"gene_symbol": "LCA5L",
"hgnc_id": 1255,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.955C>A",
"hgvs_p": "p.His319Asn"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000647779.1",
"gene_symbol": "GET1-SH3BGR",
"hgnc_id": 54635,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.336+28890G>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000478273.5",
"gene_symbol": "GET1",
"hgnc_id": 12790,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*24-7506G>T",
"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
}