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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: 15-50492909-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=50492909&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 50492909,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005154.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2443A>G",
"hgvs_p": "p.Asn815Asp",
"transcript": "NM_005154.5",
"protein_id": "NP_005145.3",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2443,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307179.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005154.5"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2443A>G",
"hgvs_p": "p.Asn815Asp",
"transcript": "ENST00000307179.9",
"protein_id": "ENSP00000302239.4",
"transcript_support_level": 1,
"aa_start": 815,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2443,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005154.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307179.9"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2443A>G",
"hgvs_p": "p.Asn815Asp",
"transcript": "ENST00000396444.7",
"protein_id": "ENSP00000379721.3",
"transcript_support_level": 1,
"aa_start": 815,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2443,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396444.7"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2569A>G",
"hgvs_p": "p.Asn857Asp",
"transcript": "ENST00000956759.1",
"protein_id": "ENSP00000626818.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2569,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956759.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2482A>G",
"hgvs_p": "p.Asn828Asp",
"transcript": "ENST00000956763.1",
"protein_id": "ENSP00000626822.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 1131,
"cds_start": 2482,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956763.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2443A>G",
"hgvs_p": "p.Asn815Asp",
"transcript": "NM_001128610.3",
"protein_id": "NP_001122082.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2443,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128610.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2443A>G",
"hgvs_p": "p.Asn815Asp",
"transcript": "ENST00000919051.1",
"protein_id": "ENSP00000589110.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2443,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919051.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2443A>G",
"hgvs_p": "p.Asn815Asp",
"transcript": "ENST00000919052.1",
"protein_id": "ENSP00000589111.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2443,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919052.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2440A>G",
"hgvs_p": "p.Asn814Asp",
"transcript": "ENST00000919048.1",
"protein_id": "ENSP00000589107.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2440,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919048.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2440A>G",
"hgvs_p": "p.Asn814Asp",
"transcript": "ENST00000919050.1",
"protein_id": "ENSP00000589109.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2440,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919050.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2362A>G",
"hgvs_p": "p.Asn788Asp",
"transcript": "ENST00000882495.1",
"protein_id": "ENSP00000552554.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2362,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882495.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2353A>G",
"hgvs_p": "p.Asn785Asp",
"transcript": "ENST00000919049.1",
"protein_id": "ENSP00000589108.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2353,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919049.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2353A>G",
"hgvs_p": "p.Asn785Asp",
"transcript": "ENST00000956762.1",
"protein_id": "ENSP00000626821.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2353,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956762.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2212A>G",
"hgvs_p": "p.Asn738Asp",
"transcript": "ENST00000919053.1",
"protein_id": "ENSP00000589112.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2212,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919053.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2212A>G",
"hgvs_p": "p.Asn738Asp",
"transcript": "ENST00000956760.1",
"protein_id": "ENSP00000626819.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2212,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956760.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2194A>G",
"hgvs_p": "p.Asn732Asp",
"transcript": "ENST00000956757.1",
"protein_id": "ENSP00000626816.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2194,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956757.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2125A>G",
"hgvs_p": "p.Asn709Asp",
"transcript": "NM_001283049.2",
"protein_id": "NP_001269978.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2125,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283049.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2125A>G",
"hgvs_p": "p.Asn709Asp",
"transcript": "ENST00000425032.7",
"protein_id": "ENSP00000412682.3",
"transcript_support_level": 2,
"aa_start": 709,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2125,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425032.7"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1771A>G",
"hgvs_p": "p.Asn591Asp",
"transcript": "ENST00000956758.1",
"protein_id": "ENSP00000626817.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 894,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956758.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1771A>G",
"hgvs_p": "p.Asn591Asp",
"transcript": "ENST00000956761.1",
"protein_id": "ENSP00000626820.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 894,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956761.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1759A>G",
"hgvs_p": "p.Asn587Asp",
"transcript": "ENST00000882497.1",
"protein_id": "ENSP00000552556.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 890,
"cds_start": 1759,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882497.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1723A>G",
"hgvs_p": "p.Asn575Asp",
"transcript": "ENST00000882496.1",
"protein_id": "ENSP00000552555.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 878,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882496.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "n.*2096A>G",
"hgvs_p": null,
"transcript": "ENST00000561211.6",
"protein_id": "ENSP00000457345.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000561211.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "n.*2096A>G",
"hgvs_p": null,
"transcript": "ENST00000561211.6",
"protein_id": "ENSP00000457345.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000561211.6"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP50",
"gene_hgnc_id": 20079,
"hgvs_c": "n.*116T>C",
"hgvs_p": null,
"transcript": "XR_007064444.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064444.1"
}
],
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"dbsnp": "rs1555392171",
"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": 0.9276769161224365,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.445,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9759,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.678,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005154.5",
"gene_symbol": "USP8",
"hgnc_id": 12631,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2443A>G",
"hgvs_p": "p.Asn815Asp"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007064444.1",
"gene_symbol": "USP50",
"hgnc_id": 20079,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*116T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Hereditary spastic paraplegia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hereditary spastic paraplegia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}