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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: 17-16381934-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=16381934&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 16381934,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_018955.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "NM_018955.4",
"protein_id": "NP_061828.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302182.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018955.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "ENST00000302182.8",
"protein_id": "ENSP00000304697.3",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018955.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302182.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "NM_001281716.2",
"protein_id": "NP_001268645.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281716.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "NM_001281717.1",
"protein_id": "NP_001268646.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281717.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "NM_001281718.1",
"protein_id": "NP_001268647.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281718.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "NM_001281719.1",
"protein_id": "NP_001268648.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281719.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "NM_001281720.2",
"protein_id": "NP_001268649.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281720.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "ENST00000395837.1",
"protein_id": "ENSP00000379178.1",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395837.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "ENST00000395839.5",
"protein_id": "ENSP00000379180.1",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395839.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "ENST00000614404.1",
"protein_id": "ENSP00000478771.1",
"transcript_support_level": 3,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614404.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "ENST00000879806.1",
"protein_id": "ENSP00000549865.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879806.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "ENST00000879807.1",
"protein_id": "ENSP00000549866.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879807.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "ENST00000879808.1",
"protein_id": "ENSP00000549867.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879808.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "ENST00000879809.1",
"protein_id": "ENSP00000549868.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879809.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "ENST00000879810.1",
"protein_id": "ENSP00000549869.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879810.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "ENST00000879811.1",
"protein_id": "ENSP00000549870.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879811.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "ENST00000879812.1",
"protein_id": "ENSP00000549871.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879812.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "ENST00000915770.1",
"protein_id": "ENSP00000585829.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915770.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "ENST00000915771.1",
"protein_id": "ENSP00000585830.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915771.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "ENST00000577640.1",
"protein_id": "ENSP00000463156.1",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 205,
"cds_start": 27,
"cds_end": null,
"cds_length": 619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577640.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "ENST00000535788.1",
"protein_id": "ENSP00000437475.1",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 153,
"cds_start": 27,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535788.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "ENST00000578706.5",
"protein_id": "ENSP00000464510.1",
"transcript_support_level": 3,
"aa_start": 9,
"aa_end": null,
"aa_length": 92,
"cds_start": 27,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578706.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr",
"transcript": "ENST00000577958.1",
"protein_id": "ENSP00000464594.1",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 42,
"cds_start": 27,
"cds_end": null,
"cds_length": 131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577958.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"hgvs_c": "n.91-425C>T",
"hgvs_p": null,
"transcript": "ENST00000578649.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000578649.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000265401",
"gene_hgnc_id": 58390,
"hgvs_c": "n.*218G>A",
"hgvs_p": null,
"transcript": "ENST00000583934.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000583934.1"
}
],
"gene_symbol": "UBB",
"gene_hgnc_id": 12463,
"dbsnp": "rs769822181",
"frequency_reference_population": 0.00002168434,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000218898,
"gnomad_genomes_af": 0.0000197106,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6499999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.98,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_018955.4",
"gene_symbol": "UBB",
"hgnc_id": 12463,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Thr9Thr"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000583934.1",
"gene_symbol": "ENSG00000265401",
"hgnc_id": 58390,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*218G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}