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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: X-47241303-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47241303&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 47241303,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001371072.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "NM_001371072.1",
"protein_id": "NP_001358001.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 920,
"cds_start": 873,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377107.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371072.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000377107.7",
"protein_id": "ENSP00000366311.2",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 920,
"cds_start": 873,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001371072.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377107.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Thr334Thr",
"transcript": "ENST00000218348.7",
"protein_id": "ENSP00000218348.3",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 963,
"cds_start": 1002,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000218348.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "n.926C>T",
"hgvs_p": null,
"transcript": "ENST00000469080.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000469080.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000970028.1",
"protein_id": "ENSP00000640087.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 943,
"cds_start": 873,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970028.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.903C>T",
"hgvs_p": "p.Thr301Thr",
"transcript": "ENST00000866798.1",
"protein_id": "ENSP00000536857.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 930,
"cds_start": 903,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866798.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000866794.1",
"protein_id": "ENSP00000536853.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 919,
"cds_start": 873,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866794.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000866800.1",
"protein_id": "ENSP00000536859.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 919,
"cds_start": 873,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866800.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000970029.1",
"protein_id": "ENSP00000640088.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 918,
"cds_start": 873,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970029.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000866801.1",
"protein_id": "ENSP00000536860.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 916,
"cds_start": 873,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866801.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000866802.1",
"protein_id": "ENSP00000536861.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 916,
"cds_start": 873,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866802.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000866803.1",
"protein_id": "ENSP00000536862.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 916,
"cds_start": 873,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866803.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000933738.1",
"protein_id": "ENSP00000603797.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 916,
"cds_start": 873,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933738.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000970027.1",
"protein_id": "ENSP00000640086.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 915,
"cds_start": 873,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970027.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000866792.1",
"protein_id": "ENSP00000536851.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 906,
"cds_start": 873,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866792.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000866796.1",
"protein_id": "ENSP00000536855.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 905,
"cds_start": 873,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866796.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000970030.1",
"protein_id": "ENSP00000640089.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 904,
"cds_start": 873,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970030.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000933739.1",
"protein_id": "ENSP00000603798.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 901,
"cds_start": 873,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933739.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000866793.1",
"protein_id": "ENSP00000536852.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 892,
"cds_start": 873,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866793.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000866795.1",
"protein_id": "ENSP00000536854.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 851,
"cds_start": 873,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866795.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000866797.1",
"protein_id": "ENSP00000536856.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 845,
"cds_start": 873,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866797.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000866799.1",
"protein_id": "ENSP00000536858.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 817,
"cds_start": 873,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866799.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr",
"transcript": "ENST00000970026.1",
"protein_id": "ENSP00000640085.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 816,
"cds_start": 873,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970026.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "ENST00000377078.2",
"protein_id": "ENSP00000366279.2",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 139,
"cds_start": 183,
"cds_end": null,
"cds_length": 422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377078.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "n.-151C>T",
"hgvs_p": null,
"transcript": "ENST00000489030.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000489030.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"hgvs_c": "n.*125C>T",
"hgvs_p": null,
"transcript": "ENST00000489111.1",
"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": "retained_intron",
"feature": "ENST00000489111.1"
}
],
"gene_symbol": "USP11",
"gene_hgnc_id": 12609,
"dbsnp": "rs151312911",
"frequency_reference_population": 0.00007451423,
"hom_count_reference_population": 46,
"allele_count_reference_population": 90,
"gnomad_exomes_af": 0.0000802685,
"gnomad_genomes_af": 0.0000179369,
"gnomad_exomes_ac": 88,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -6.525,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_001371072.1",
"gene_symbol": "USP11",
"hgnc_id": 12609,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.873C>T",
"hgvs_p": "p.Thr291Thr"
}
],
"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
}