← 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: 10-27136371-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27136371&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 27136371,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_139312.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Trp",
"transcript": "NM_014263.4",
"protein_id": "NP_055078.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 716,
"cds_start": 445,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376016.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014263.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Trp",
"transcript": "ENST00000376016.8",
"protein_id": "ENSP00000365184.3",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 716,
"cds_start": 445,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014263.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376016.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Trp",
"transcript": "ENST00000326799.7",
"protein_id": "ENSP00000318480.3",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 773,
"cds_start": 616,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326799.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Arg231Trp",
"transcript": "ENST00000969517.1",
"protein_id": "ENSP00000639576.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 798,
"cds_start": 691,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969517.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Trp",
"transcript": "NM_139312.3",
"protein_id": "NP_647473.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 773,
"cds_start": 616,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139312.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Trp",
"transcript": "ENST00000969518.1",
"protein_id": "ENSP00000639577.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 742,
"cds_start": 523,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969518.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Arg173Trp",
"transcript": "ENST00000891817.1",
"protein_id": "ENSP00000561876.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 740,
"cds_start": 517,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891817.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Trp",
"transcript": "ENST00000891815.1",
"protein_id": "ENSP00000561874.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 732,
"cds_start": 445,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891815.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Trp",
"transcript": "ENST00000969516.1",
"protein_id": "ENSP00000639575.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 716,
"cds_start": 445,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969516.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Trp",
"transcript": "ENST00000891814.1",
"protein_id": "ENSP00000561873.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 713,
"cds_start": 436,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891814.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Trp",
"transcript": "ENST00000891816.1",
"protein_id": "ENSP00000561875.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 711,
"cds_start": 445,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891816.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Trp",
"transcript": "ENST00000891820.1",
"protein_id": "ENSP00000561879.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 700,
"cds_start": 445,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891820.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Trp",
"transcript": "ENST00000969514.1",
"protein_id": "ENSP00000639573.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 695,
"cds_start": 445,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969514.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Trp",
"transcript": "ENST00000891819.1",
"protein_id": "ENSP00000561878.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 687,
"cds_start": 445,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891819.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Trp",
"transcript": "NM_001253866.2",
"protein_id": "NP_001240795.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 683,
"cds_start": 346,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253866.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Trp",
"transcript": "ENST00000427324.6",
"protein_id": "ENSP00000398713.2",
"transcript_support_level": 3,
"aa_start": 116,
"aa_end": null,
"aa_length": 683,
"cds_start": 346,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427324.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Trp",
"transcript": "ENST00000891821.1",
"protein_id": "ENSP00000561880.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 664,
"cds_start": 445,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891821.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Trp",
"transcript": "ENST00000891818.1",
"protein_id": "ENSP00000561877.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 649,
"cds_start": 445,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891818.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Trp",
"transcript": "ENST00000927724.1",
"protein_id": "ENSP00000597783.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 644,
"cds_start": 445,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927724.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Arg58Trp",
"transcript": "ENST00000969515.1",
"protein_id": "ENSP00000639574.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 625,
"cds_start": 172,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969515.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "ENST00000396296.7",
"protein_id": "ENSP00000379590.3",
"transcript_support_level": 5,
"aa_start": 141,
"aa_end": null,
"aa_length": 247,
"cds_start": 421,
"cds_end": null,
"cds_length": 746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396296.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Arg173Trp",
"transcript": "XM_011519300.4",
"protein_id": "XP_011517602.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 740,
"cds_start": 517,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519300.4"
},
{
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.169-1390C>T",
"hgvs_p": null,
"transcript": "ENST00000491542.7",
"protein_id": "ENSP00000473557.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": null,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491542.7"
},
{
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.169-9585C>T",
"hgvs_p": null,
"transcript": "ENST00000927723.1",
"protein_id": "ENSP00000597782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 486,
"cds_start": null,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927723.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "n.-34C>T",
"hgvs_p": null,
"transcript": "ENST00000463270.1",
"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": "pseudogene",
"feature": "ENST00000463270.1"
}
],
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"dbsnp": "rs1057519312",
"frequency_reference_population": 0.0000027393733,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273937,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8274257779121399,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.877,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8815,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.46,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.527,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_139312.3",
"gene_symbol": "YME1L1",
"hgnc_id": 12843,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Trp"
}
],
"clinvar_disease": "Optic atrophy 11",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Optic atrophy 11",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}