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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: 15-50494282-T-TAAGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=50494282&ref=T&alt=TAAGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 50494282,
"ref": "T",
"alt": "TAAGA",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000307179.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2658+5_2658+8dupGAAA",
"hgvs_p": null,
"transcript": "NM_005154.5",
"protein_id": "NP_005145.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1118,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2658+2_2658+3insAAGA",
"hgvs_p": null,
"transcript": "ENST00000307179.9",
"protein_id": "ENSP00000302239.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1118,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2658+2_2658+3insAAGA",
"hgvs_p": null,
"transcript": "ENST00000396444.7",
"protein_id": "ENSP00000379721.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1118,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2784+2_2784+3insAAGA",
"hgvs_p": null,
"transcript": "ENST00000956759.1",
"protein_id": "ENSP00000626818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1160,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2697+2_2697+3insAAGA",
"hgvs_p": null,
"transcript": "ENST00000956763.1",
"protein_id": "ENSP00000626822.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1131,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2658+5_2658+8dupGAAA",
"hgvs_p": null,
"transcript": "NM_001128610.3",
"protein_id": "NP_001122082.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1118,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2658+2_2658+3insAAGA",
"hgvs_p": null,
"transcript": "ENST00000919051.1",
"protein_id": "ENSP00000589110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1118,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2658+2_2658+3insAAGA",
"hgvs_p": null,
"transcript": "ENST00000919052.1",
"protein_id": "ENSP00000589111.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1118,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2655+2_2655+3insAAGA",
"hgvs_p": null,
"transcript": "ENST00000919048.1",
"protein_id": "ENSP00000589107.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1117,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2655+2_2655+3insAAGA",
"hgvs_p": null,
"transcript": "ENST00000919050.1",
"protein_id": "ENSP00000589109.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1117,
"cds_start": null,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919050.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2577+2_2577+3insAAGA",
"hgvs_p": null,
"transcript": "ENST00000882495.1",
"protein_id": "ENSP00000552554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1091,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882495.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2568+2_2568+3insAAGA",
"hgvs_p": null,
"transcript": "ENST00000919049.1",
"protein_id": "ENSP00000589108.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1088,
"cds_start": null,
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"cds_length": 3267,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000919049.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2568+2_2568+3insAAGA",
"hgvs_p": null,
"transcript": "ENST00000956762.1",
"protein_id": "ENSP00000626821.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000956762.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2427+2_2427+3insAAGA",
"hgvs_p": null,
"transcript": "ENST00000919053.1",
"protein_id": "ENSP00000589112.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1041,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919053.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2427+2_2427+3insAAGA",
"hgvs_p": null,
"transcript": "ENST00000956760.1",
"protein_id": "ENSP00000626819.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000956760.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2409+2_2409+3insAAGA",
"hgvs_p": null,
"transcript": "ENST00000956757.1",
"protein_id": "ENSP00000626816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956757.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2340+5_2340+8dupGAAA",
"hgvs_p": null,
"transcript": "NM_001283049.2",
"protein_id": "NP_001269978.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1012,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.2340+2_2340+3insAAGA",
"hgvs_p": null,
"transcript": "ENST00000425032.7",
"protein_id": "ENSP00000412682.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1012,
"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425032.7"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1986+2_1986+3insAAGA",
"hgvs_p": null,
"transcript": "ENST00000956758.1",
"protein_id": "ENSP00000626817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956758.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1986+2_1986+3insAAGA",
"hgvs_p": null,
"transcript": "ENST00000956761.1",
"protein_id": "ENSP00000626820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": null,
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"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1974+2_1974+3insAAGA",
"hgvs_p": null,
"transcript": "ENST00000882497.1",
"protein_id": "ENSP00000552556.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1938+2_1938+3insAAGA",
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"transcript": "ENST00000882496.1",
"protein_id": "ENSP00000552555.1",
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"aa_length": 878,
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"cds_length": 2637,
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"biotype": "protein_coding",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"transcript": "ENST00000419830.2",
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000419830.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "USP50",
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"transcript": "ENST00000560159.1",
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"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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"biotype": "pseudogene",
"feature": "ENST00000560159.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
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"gene_symbol": "USP8",
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"hgvs_c": "n.*2311+2_*2311+3insAAGA",
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"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,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000561211.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "USP50",
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"hgvs_c": "n.369-12_369-11insTCTT",
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"transcript": "ENST00000673693.1",
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"biotype": "pseudogene",
"feature": "ENST00000673693.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "USP50",
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"hgvs_c": "n.471-12_471-11insTCTT",
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"transcript": "ENST00000673738.1",
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"aa_length": null,
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000673738.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 7,
"intron_rank": 6,
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"gene_symbol": "USP50",
"gene_hgnc_id": 20079,
"hgvs_c": "n.1918-351_1918-348dupTCTT",
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"transcript": "XR_007064444.1",
"protein_id": null,
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"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"
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],
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"dbsnp": "rs535741597",
"frequency_reference_population": 0.0025884514,
"hom_count_reference_population": 8,
"allele_count_reference_population": 4122,
"gnomad_exomes_af": 0.00256854,
"gnomad_genomes_af": 0.00277672,
"gnomad_exomes_ac": 3699,
"gnomad_genomes_ac": 423,
"gnomad_exomes_homalt": 8,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.794,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000307179.9",
"gene_symbol": "USP8",
"hgnc_id": 12631,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2658+2_2658+3insAAGA",
"hgvs_p": null
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000560159.1",
"gene_symbol": "USP50",
"hgnc_id": 20079,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.185-153_185-152insTCTT",
"hgvs_p": null
}
],
"clinvar_disease": "Hereditary spastic paraplegia,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Hereditary spastic paraplegia|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}