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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-74534412-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74534412&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74534412,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032603.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1843A>T",
"hgvs_p": "p.Ile615Phe",
"transcript": "NM_032603.5",
"protein_id": "NP_115992.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 753,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": "ENST00000264094.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032603.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1843A>T",
"hgvs_p": "p.Ile615Phe",
"transcript": "ENST00000264094.8",
"protein_id": "ENSP00000264094.3",
"transcript_support_level": 1,
"aa_start": 615,
"aa_end": null,
"aa_length": 753,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": "NM_032603.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264094.8"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1843A>T",
"hgvs_p": "p.Ile615Phe",
"transcript": "ENST00000946469.1",
"protein_id": "ENSP00000616528.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 760,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 3167,
"cdna_end": null,
"cdna_length": 4086,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946469.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1843A>T",
"hgvs_p": "p.Ile615Phe",
"transcript": "ENST00000853956.1",
"protein_id": "ENSP00000524015.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 753,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 2798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853956.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1843A>T",
"hgvs_p": "p.Ile615Phe",
"transcript": "ENST00000853957.1",
"protein_id": "ENSP00000524016.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 753,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 2859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853957.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1843A>T",
"hgvs_p": "p.Ile615Phe",
"transcript": "ENST00000853958.1",
"protein_id": "ENSP00000524017.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 753,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 2949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853958.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1843A>T",
"hgvs_p": "p.Ile615Phe",
"transcript": "ENST00000853959.1",
"protein_id": "ENSP00000524018.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 753,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2291,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853959.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1843A>T",
"hgvs_p": "p.Ile615Phe",
"transcript": "ENST00000946465.1",
"protein_id": "ENSP00000616524.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 753,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2099,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946465.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1843A>T",
"hgvs_p": "p.Ile615Phe",
"transcript": "ENST00000946466.1",
"protein_id": "ENSP00000616525.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 753,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 2921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946466.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1843A>T",
"hgvs_p": "p.Ile615Phe",
"transcript": "ENST00000946467.1",
"protein_id": "ENSP00000616526.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 753,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2218,
"cdna_end": null,
"cdna_length": 3105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946467.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1840A>T",
"hgvs_p": "p.Ile614Phe",
"transcript": "ENST00000946471.1",
"protein_id": "ENSP00000616530.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 752,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946471.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1675A>T",
"hgvs_p": "p.Ile559Phe",
"transcript": "ENST00000409549.5",
"protein_id": "ENSP00000386696.1",
"transcript_support_level": 2,
"aa_start": 559,
"aa_end": null,
"aa_length": 697,
"cds_start": 1675,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 2125,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409549.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1675A>T",
"hgvs_p": "p.Ile559Phe",
"transcript": "ENST00000946468.1",
"protein_id": "ENSP00000616527.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 697,
"cds_start": 1675,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1803,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946468.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1408A>T",
"hgvs_p": "p.Ile470Phe",
"transcript": "NM_001289164.3",
"protein_id": "NP_001276093.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 608,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1487,
"cdna_end": null,
"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289164.3"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1408A>T",
"hgvs_p": "p.Ile470Phe",
"transcript": "ENST00000393937.6",
"protein_id": "ENSP00000377512.2",
"transcript_support_level": 5,
"aa_start": 470,
"aa_end": null,
"aa_length": 608,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393937.6"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1408A>T",
"hgvs_p": "p.Ile470Phe",
"transcript": "ENST00000934363.1",
"protein_id": "ENSP00000604422.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 608,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934363.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1408A>T",
"hgvs_p": "p.Ile470Phe",
"transcript": "ENST00000409986.5",
"protein_id": "ENSP00000386545.1",
"transcript_support_level": 2,
"aa_start": 470,
"aa_end": null,
"aa_length": 586,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409986.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1240A>T",
"hgvs_p": "p.Ile414Phe",
"transcript": "ENST00000946470.1",
"protein_id": "ENSP00000616529.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 552,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 2231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946470.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.760A>T",
"hgvs_p": "p.Ile254Phe",
"transcript": "NM_001289165.2",
"protein_id": "NP_001276094.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 392,
"cds_start": 760,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289165.2"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1843A>T",
"hgvs_p": "p.Ile615Phe",
"transcript": "XM_011533134.3",
"protein_id": "XP_011531436.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 753,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 3664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533134.3"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1843A>T",
"hgvs_p": "p.Ile615Phe",
"transcript": "XM_024453176.2",
"protein_id": "XP_024308944.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 753,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453176.2"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1843A>T",
"hgvs_p": "p.Ile615Phe",
"transcript": "XM_024453177.2",
"protein_id": "XP_024308945.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 753,
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"biotype": "protein_coding",
"feature": "XM_024453177.2"
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "LOXL3",
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"hgvs_c": "c.1843A>T",
"hgvs_p": "p.Ile615Phe",
"transcript": "XM_024453178.2",
"protein_id": "XP_024308946.1",
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"aa_start": 615,
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"biotype": "protein_coding",
"feature": "XM_024453178.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 5,
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"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "c.1094-176A>T",
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"transcript": "ENST00000409249.5",
"protein_id": "ENSP00000387103.1",
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"aa_end": null,
"aa_length": 471,
"cds_start": null,
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"cds_length": 1416,
"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000409249.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"hgvs_c": "n.1226A>T",
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"transcript": "ENST00000470907.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470907.6"
}
],
"gene_symbol": "LOXL3",
"gene_hgnc_id": 13869,
"dbsnp": "rs17010021",
"frequency_reference_population": 0.054709755,
"hom_count_reference_population": 5524,
"allele_count_reference_population": 88308,
"gnomad_exomes_af": 0.0547305,
"gnomad_genomes_af": 0.0545107,
"gnomad_exomes_ac": 80007,
"gnomad_genomes_ac": 8301,
"gnomad_exomes_homalt": 4986,
"gnomad_genomes_homalt": 538,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002930253744125366,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.138,
"revel_prediction": "Benign",
"alphamissense_score": 0.762,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.442,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_032603.5",
"gene_symbol": "LOXL3",
"hgnc_id": 13869,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1843A>T",
"hgvs_p": "p.Ile615Phe"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}