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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: 3-33400264-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=33400264&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 33400264,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014517.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.1105A>G",
"hgvs_p": "p.Thr369Ala",
"transcript": "NM_014517.5",
"protein_id": "NP_055332.3",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 540,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 4175,
"mane_select": "ENST00000283629.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014517.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.1105A>G",
"hgvs_p": "p.Thr369Ala",
"transcript": "ENST00000283629.8",
"protein_id": "ENSP00000283629.3",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 540,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 4175,
"mane_select": "NM_014517.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283629.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.1105A>G",
"hgvs_p": "p.Thr369Ala",
"transcript": "NM_001128161.2",
"protein_id": "NP_001121633.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 540,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128161.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.1105A>G",
"hgvs_p": "p.Thr369Ala",
"transcript": "ENST00000283628.9",
"protein_id": "ENSP00000283628.5",
"transcript_support_level": 2,
"aa_start": 369,
"aa_end": null,
"aa_length": 540,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283628.9"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.1105A>G",
"hgvs_p": "p.Thr369Ala",
"transcript": "ENST00000908179.1",
"protein_id": "ENSP00000578238.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 540,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908179.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.1105A>G",
"hgvs_p": "p.Thr369Ala",
"transcript": "ENST00000964660.1",
"protein_id": "ENSP00000634719.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 540,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 4077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964660.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.1042A>G",
"hgvs_p": "p.Thr348Ala",
"transcript": "ENST00000964661.1",
"protein_id": "ENSP00000634720.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 519,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 3791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964661.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.997A>G",
"hgvs_p": "p.Thr333Ala",
"transcript": "NM_001128160.2",
"protein_id": "NP_001121632.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 504,
"cds_start": 997,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128160.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.997A>G",
"hgvs_p": "p.Thr333Ala",
"transcript": "ENST00000447368.6",
"protein_id": "ENSP00000395558.2",
"transcript_support_level": 2,
"aa_start": 333,
"aa_end": null,
"aa_length": 504,
"cds_start": 997,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 3669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447368.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.1114A>G",
"hgvs_p": "p.Thr372Ala",
"transcript": "XM_047448846.1",
"protein_id": "XP_047304802.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 543,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 4228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448846.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.1006A>G",
"hgvs_p": "p.Thr336Ala",
"transcript": "XM_047448847.1",
"protein_id": "XP_047304803.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 507,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448847.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.1114A>G",
"hgvs_p": "p.Thr372Ala",
"transcript": "XM_047448848.1",
"protein_id": "XP_047304804.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 428,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448848.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.649A>G",
"hgvs_p": "p.Thr217Ala",
"transcript": "XM_047448849.1",
"protein_id": "XP_047304805.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 388,
"cds_start": 649,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448849.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "n.247A>G",
"hgvs_p": null,
"transcript": "ENST00000411650.5",
"protein_id": "ENSP00000393842.1",
"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": 859,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000411650.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "n.211A>G",
"hgvs_p": null,
"transcript": "ENST00000486388.5",
"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": 928,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000486388.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "n.4A>G",
"hgvs_p": null,
"transcript": "ENST00000490112.1",
"protein_id": null,
"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": 633,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490112.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "n.1715A>G",
"hgvs_p": null,
"transcript": "XR_007095724.1",
"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": 2084,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007095724.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FBXL2",
"gene_hgnc_id": 13598,
"hgvs_c": "n.1215-2970T>C",
"hgvs_p": null,
"transcript": "ENST00000463736.5",
"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": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463736.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "FBXL2",
"gene_hgnc_id": 13598,
"hgvs_c": "n.1557+14536T>C",
"hgvs_p": null,
"transcript": "NR_146123.2",
"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": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146123.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "FBXL2",
"gene_hgnc_id": 13598,
"hgvs_c": "n.1576-2970T>C",
"hgvs_p": null,
"transcript": "NR_146124.2",
"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": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146124.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "FBXL2",
"gene_hgnc_id": 13598,
"hgvs_c": "n.1558-2970T>C",
"hgvs_p": null,
"transcript": "NR_146125.2",
"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": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146125.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "FBXL2",
"gene_hgnc_id": 13598,
"hgvs_c": "n.1464-2970T>C",
"hgvs_p": null,
"transcript": "NR_146127.2",
"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": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146127.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 12,
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"gene_symbol": "FBXL2",
"gene_hgnc_id": 13598,
"hgvs_c": "n.1239-2970T>C",
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"transcript": "NR_146128.2",
"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": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146128.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 15,
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"gene_symbol": "FBXL2",
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"hgvs_c": "n.1515-2970T>C",
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"transcript": "NR_146129.2",
"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": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146129.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 15,
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"gene_symbol": "FBXL2",
"gene_hgnc_id": 13598,
"hgvs_c": "n.1463+14536T>C",
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"transcript": "NR_146132.2",
"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": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146132.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "FBXL2",
"gene_hgnc_id": 13598,
"hgvs_c": "n.1557-2970T>C",
"hgvs_p": null,
"transcript": "XR_007095659.1",
"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": 1985,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007095659.1"
}
],
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"dbsnp": "rs778346234",
"frequency_reference_population": 0.0000031223772,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.0000020702,
"gnomad_genomes_af": 0.0000131399,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11306661367416382,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.1206,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.662,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014517.5",
"gene_symbol": "UBP1",
"hgnc_id": 12507,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1105A>G",
"hgvs_p": "p.Thr369Ala"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000463736.5",
"gene_symbol": "FBXL2",
"hgnc_id": 13598,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.1215-2970T>C",
"hgvs_p": null
}
],
"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
}