← 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: 22-24495473-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=24495473&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 24495473,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_016327.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "NM_016327.3",
"protein_id": "NP_057411.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 384,
"cds_start": 70,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": "ENST00000326010.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016327.3"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000326010.10",
"protein_id": "ENSP00000324343.5",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 384,
"cds_start": 70,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": "NM_016327.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326010.10"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000858218.1",
"protein_id": "ENSP00000528277.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 428,
"cds_start": 70,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858218.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000858215.1",
"protein_id": "ENSP00000528274.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 401,
"cds_start": 70,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858215.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000858213.1",
"protein_id": "ENSP00000528272.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 392,
"cds_start": 70,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 2041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858213.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000858219.1",
"protein_id": "ENSP00000528278.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 388,
"cds_start": 70,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858219.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000858225.1",
"protein_id": "ENSP00000528284.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 383,
"cds_start": 70,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 1458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858225.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000858223.1",
"protein_id": "ENSP00000528282.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 381,
"cds_start": 70,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 86,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858223.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000858222.1",
"protein_id": "ENSP00000528281.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 376,
"cds_start": 70,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858222.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000858209.1",
"protein_id": "ENSP00000528267.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 375,
"cds_start": 70,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858209.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000858211.1",
"protein_id": "ENSP00000528269.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 369,
"cds_start": 70,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858211.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000858210.1",
"protein_id": "ENSP00000528268.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 367,
"cds_start": 70,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 2050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858210.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000858217.1",
"protein_id": "ENSP00000528276.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 365,
"cds_start": 70,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858217.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000858226.1",
"protein_id": "ENSP00000528285.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 364,
"cds_start": 70,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 1386,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858226.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000858220.1",
"protein_id": "ENSP00000528279.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 335,
"cds_start": 70,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858220.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000858224.1",
"protein_id": "ENSP00000528283.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 327,
"cds_start": 70,
"cds_end": null,
"cds_length": 984,
"cdna_start": 96,
"cdna_end": null,
"cdna_length": 1314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858224.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000858208.1",
"protein_id": "ENSP00000528266.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 318,
"cds_start": 70,
"cds_end": null,
"cds_length": 957,
"cdna_start": 183,
"cdna_end": null,
"cdna_length": 1944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858208.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000858203.1",
"protein_id": "ENSP00000528264.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 313,
"cds_start": 70,
"cds_end": null,
"cds_length": 942,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858203.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000858212.1",
"protein_id": "ENSP00000528270.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 234,
"cds_start": 70,
"cds_end": null,
"cds_length": 705,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858212.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000382760.2",
"protein_id": "ENSP00000372208.2",
"transcript_support_level": 5,
"aa_start": 24,
"aa_end": null,
"aa_length": 186,
"cds_start": 70,
"cds_end": null,
"cds_length": 561,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382760.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "XM_047441404.1",
"protein_id": "XP_047297360.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 350,
"cds_start": 70,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441404.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "XM_011530223.3",
"protein_id": "XP_011528525.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 348,
"cds_start": 70,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530223.3"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "XM_047441405.1",
"protein_id": "XP_047297361.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 292,
"cds_start": 70,
"cds_end": null,
"cds_length": 879,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 1038,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441405.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "n.70G>T",
"hgvs_p": null,
"transcript": "ENST00000415388.5",
"protein_id": "ENSP00000400684.1",
"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": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000415388.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "n.142G>T",
"hgvs_p": null,
"transcript": "XR_001755249.2",
"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": 1032,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001755249.2"
}
],
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"dbsnp": "rs552049627",
"frequency_reference_population": 0.000013011265,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000136821,
"gnomad_genomes_af": 0.00000656953,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17800000309944153,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.9900000095367432,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.178,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.682,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.99,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1_Strong",
"PM2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_016327.3",
"gene_symbol": "UPB1",
"hgnc_id": 16297,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}