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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: 8-17247340-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17247340&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 17247340,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_152415.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "NM_152415.3",
"protein_id": "NP_689628.2",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 397,
"cds_start": 96,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324849.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152415.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000324849.9",
"protein_id": "ENSP00000318629.4",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 397,
"cds_start": 96,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152415.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324849.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000521829.5",
"protein_id": "ENSP00000429680.1",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 372,
"cds_start": 96,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521829.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000967262.1",
"protein_id": "ENSP00000637321.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 433,
"cds_start": 96,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967262.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000967265.1",
"protein_id": "ENSP00000637324.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 402,
"cds_start": 96,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967265.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "NM_001363173.2",
"protein_id": "NP_001350102.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 397,
"cds_start": 96,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363173.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000880479.1",
"protein_id": "ENSP00000550538.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 397,
"cds_start": 96,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880479.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000880482.1",
"protein_id": "ENSP00000550541.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 397,
"cds_start": 96,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880482.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000880486.1",
"protein_id": "ENSP00000550545.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 397,
"cds_start": 96,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880486.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000967263.1",
"protein_id": "ENSP00000637322.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 397,
"cds_start": 96,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967263.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000967264.1",
"protein_id": "ENSP00000637323.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 397,
"cds_start": 96,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967264.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "NM_001363167.1",
"protein_id": "NP_001350096.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 391,
"cds_start": 96,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363167.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000880480.1",
"protein_id": "ENSP00000550539.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 391,
"cds_start": 96,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880480.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000880487.1",
"protein_id": "ENSP00000550546.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 391,
"cds_start": 96,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880487.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000967268.1",
"protein_id": "ENSP00000637327.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 391,
"cds_start": 96,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967268.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000967269.1",
"protein_id": "ENSP00000637328.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 384,
"cds_start": 96,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967269.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000967270.1",
"protein_id": "ENSP00000637329.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 374,
"cds_start": 96,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967270.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "NM_001145152.2",
"protein_id": "NP_001138624.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 372,
"cds_start": 96,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145152.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000880485.1",
"protein_id": "ENSP00000550544.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 366,
"cds_start": 96,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880485.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000880481.1",
"protein_id": "ENSP00000550540.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 349,
"cds_start": 96,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880481.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000880484.1",
"protein_id": "ENSP00000550543.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 349,
"cds_start": 96,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880484.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu",
"transcript": "ENST00000967271.1",
"protein_id": "ENSP00000637330.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 349,
"cds_start": 96,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.383G>C",
"hgvs_p": null,
"transcript": "XR_007060699.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060699.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.383G>C",
"hgvs_p": null,
"transcript": "XR_007060700.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060700.1"
}
],
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"dbsnp": "rs199577037",
"frequency_reference_population": 0.00032490675,
"hom_count_reference_population": 4,
"allele_count_reference_population": 495,
"gnomad_exomes_af": 0.000338649,
"gnomad_genomes_af": 0.000196666,
"gnomad_exomes_ac": 466,
"gnomad_genomes_ac": 29,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"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": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.431,
"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_152415.3",
"gene_symbol": "VPS37A",
"hgnc_id": 24928,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Leu32Leu"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000851025.1",
"gene_symbol": "CNOT7",
"hgnc_id": 14101,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-96+144C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Hereditary spastic paraplegia 53,VPS37A-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Hereditary spastic paraplegia 53|VPS37A-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}