← 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: 18-46529182-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=46529182&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 46529182,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001384474.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4525G>A",
"hgvs_p": "p.Gly1509Arg",
"transcript": "NM_001384474.1",
"protein_id": "NP_001371403.1",
"transcript_support_level": null,
"aa_start": 1509,
"aa_end": null,
"aa_length": 2273,
"cds_start": 4525,
"cds_end": null,
"cds_length": 6822,
"cdna_start": 4712,
"cdna_end": null,
"cdna_length": 7208,
"mane_select": "ENST00000642948.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4525G>A",
"hgvs_p": "p.Gly1509Arg",
"transcript": "ENST00000642948.1",
"protein_id": "ENSP00000496347.1",
"transcript_support_level": null,
"aa_start": 1509,
"aa_end": null,
"aa_length": 2273,
"cds_start": 4525,
"cds_end": null,
"cds_length": 6822,
"cdna_start": 4712,
"cdna_end": null,
"cdna_length": 7208,
"mane_select": "NM_001384474.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1192G>A",
"hgvs_p": "p.Gly398Arg",
"transcript": "ENST00000300591.11",
"protein_id": "ENSP00000300591.6",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 1114,
"cds_start": 1192,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Gly302Arg",
"transcript": "ENST00000579038.6",
"protein_id": "ENSP00000463285.1",
"transcript_support_level": 1,
"aa_start": 302,
"aa_end": null,
"aa_length": 1011,
"cds_start": 904,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4525G>A",
"hgvs_p": "p.Gly1509Arg",
"transcript": "NM_144612.7",
"protein_id": "NP_653213.6",
"transcript_support_level": null,
"aa_start": 1509,
"aa_end": null,
"aa_length": 2211,
"cds_start": 4525,
"cds_end": null,
"cds_length": 6636,
"cdna_start": 4712,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4525G>A",
"hgvs_p": "p.Gly1509Arg",
"transcript": "ENST00000536736.5",
"protein_id": "ENSP00000444586.1",
"transcript_support_level": 5,
"aa_start": 1509,
"aa_end": null,
"aa_length": 2211,
"cds_start": 4525,
"cds_end": null,
"cds_length": 6636,
"cdna_start": 4525,
"cdna_end": null,
"cdna_length": 6848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3907G>A",
"hgvs_p": "p.Gly1303Arg",
"transcript": "ENST00000441551.6",
"protein_id": "ENSP00000387621.2",
"transcript_support_level": 5,
"aa_start": 1303,
"aa_end": null,
"aa_length": 2067,
"cds_start": 3907,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 3907,
"cdna_end": null,
"cdna_length": 6226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1192G>A",
"hgvs_p": "p.Gly398Arg",
"transcript": "NM_001145472.3",
"protein_id": "NP_001138944.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 1114,
"cds_start": 1192,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1192G>A",
"hgvs_p": "p.Gly398Arg",
"transcript": "ENST00000582408.6",
"protein_id": "ENSP00000461964.1",
"transcript_support_level": 2,
"aa_start": 398,
"aa_end": null,
"aa_length": 1100,
"cds_start": 1192,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 3761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Gly302Arg",
"transcript": "NM_001308013.2",
"protein_id": "NP_001294942.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1011,
"cds_start": 904,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3481G>A",
"hgvs_p": "p.Gly1161Arg",
"transcript": "XM_047437289.1",
"protein_id": "XP_047293245.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1925,
"cds_start": 3481,
"cds_end": null,
"cds_length": 5778,
"cdna_start": 3580,
"cdna_end": null,
"cdna_length": 6076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3691G>A",
"hgvs_p": "p.Gly1231Arg",
"transcript": "XM_047437290.1",
"protein_id": "XP_047293246.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1768,
"cds_start": 3691,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 3838,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3691G>A",
"hgvs_p": "p.Gly1231Arg",
"transcript": "XM_047437291.1",
"protein_id": "XP_047293247.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1765,
"cds_start": 3691,
"cds_end": null,
"cds_length": 5298,
"cdna_start": 3838,
"cdna_end": null,
"cdna_length": 7090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3691G>A",
"hgvs_p": "p.Gly1231Arg",
"transcript": "XM_047437292.1",
"protein_id": "XP_047293248.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1741,
"cds_start": 3691,
"cds_end": null,
"cds_length": 5226,
"cdna_start": 3838,
"cdna_end": null,
"cdna_length": 5450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2686G>A",
"hgvs_p": "p.Gly896Arg",
"transcript": "XM_011525804.3",
"protein_id": "XP_011524106.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1660,
"cds_start": 2686,
"cds_end": null,
"cds_length": 4983,
"cdna_start": 2755,
"cdna_end": null,
"cdna_length": 5251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3691G>A",
"hgvs_p": "p.Gly1231Arg",
"transcript": "XM_047437293.1",
"protein_id": "XP_047293249.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1635,
"cds_start": 3691,
"cds_end": null,
"cds_length": 4908,
"cdna_start": 3838,
"cdna_end": null,
"cdna_length": 5153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3691G>A",
"hgvs_p": "p.Gly1231Arg",
"transcript": "XM_047437294.1",
"protein_id": "XP_047293250.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3691,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 3838,
"cdna_end": null,
"cdna_length": 4124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1324G>A",
"hgvs_p": "p.Gly442Arg",
"transcript": "XM_006722388.4",
"protein_id": "XP_006722451.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 1206,
"cds_start": 1324,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Gly397Arg",
"transcript": "XM_024451085.2",
"protein_id": "XP_024306853.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 1161,
"cds_start": 1189,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 3718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1324G>A",
"hgvs_p": "p.Gly442Arg",
"transcript": "XM_006722391.4",
"protein_id": "XP_006722454.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 1144,
"cds_start": 1324,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Gly302Arg",
"transcript": "XM_024451086.2",
"protein_id": "XP_024306854.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1066,
"cds_start": 904,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Gly302Arg",
"transcript": "XM_024451088.2",
"protein_id": "XP_024306856.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1066,
"cds_start": 904,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 3587,
"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": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "n.3838G>A",
"hgvs_p": null,
"transcript": "ENST00000335730.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 4775,
"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": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3541+3980G>A",
"hgvs_p": null,
"transcript": "XM_047437295.1",
"protein_id": "XP_047293251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1181,
"cds_start": -4,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "n.*364G>A",
"hgvs_p": null,
"transcript": "ENST00000536111.1",
"protein_id": "ENSP00000440060.1",
"transcript_support_level": 2,
"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": 1358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"dbsnp": "rs727505320",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.957515299320221,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.723,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.674,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.77,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001384474.1",
"gene_symbol": "LOXHD1",
"hgnc_id": 26521,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4525G>A",
"hgvs_p": "p.Gly1509Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}