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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: 6-134174064-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=134174064&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 134174064,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001143676.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Ile152Val",
"transcript": "NM_001143676.3",
"protein_id": "NP_001137148.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 526,
"cds_start": 454,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": "ENST00000367858.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143676.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Ile152Val",
"transcript": "ENST00000367858.10",
"protein_id": "ENSP00000356832.5",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 526,
"cds_start": 454,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": "NM_001143676.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367858.10"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ile85Val",
"transcript": "ENST00000528577.5",
"protein_id": "ENSP00000434450.1",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 459,
"cds_start": 253,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 1850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528577.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.211A>G",
"hgvs_p": "p.Ile71Val",
"transcript": "ENST00000413996.7",
"protein_id": "ENSP00000396242.3",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 445,
"cds_start": 211,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413996.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.169A>G",
"hgvs_p": "p.Ile57Val",
"transcript": "ENST00000237305.12",
"protein_id": "ENSP00000237305.7",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 431,
"cds_start": 169,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000237305.12"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Ile47Val",
"transcript": "ENST00000367857.9",
"protein_id": "ENSP00000356831.5",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 421,
"cds_start": 139,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367857.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ile85Val",
"transcript": "NM_001143677.2",
"protein_id": "NP_001137149.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 459,
"cds_start": 253,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143677.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.238A>G",
"hgvs_p": "p.Ile80Val",
"transcript": "ENST00000944482.1",
"protein_id": "ENSP00000614541.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 454,
"cds_start": 238,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944482.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.211A>G",
"hgvs_p": "p.Ile71Val",
"transcript": "NM_001143678.2",
"protein_id": "NP_001137150.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 445,
"cds_start": 211,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143678.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.169A>G",
"hgvs_p": "p.Ile57Val",
"transcript": "NM_005627.4",
"protein_id": "NP_005618.2",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 431,
"cds_start": 169,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005627.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.169A>G",
"hgvs_p": "p.Ile57Val",
"transcript": "NM_001291995.2",
"protein_id": "NP_001278924.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 387,
"cds_start": 169,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291995.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.169A>G",
"hgvs_p": "p.Ile57Val",
"transcript": "ENST00000475719.6",
"protein_id": "ENSP00000434302.1",
"transcript_support_level": 2,
"aa_start": 57,
"aa_end": null,
"aa_length": 387,
"cds_start": 169,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 1383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475719.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.361A>G",
"hgvs_p": "p.Ile121Val",
"transcript": "ENST00000461976.2",
"protein_id": "ENSP00000435577.1",
"transcript_support_level": 4,
"aa_start": 121,
"aa_end": null,
"aa_length": 143,
"cds_start": 361,
"cds_end": null,
"cds_length": 432,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461976.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.204A>G",
"hgvs_p": null,
"transcript": "ENST00000367855.7",
"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": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000367855.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.368A>G",
"hgvs_p": null,
"transcript": "ENST00000472859.2",
"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": 523,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000472859.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.658A>G",
"hgvs_p": null,
"transcript": "ENST00000474427.6",
"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": 5474,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474427.6"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.184A>G",
"hgvs_p": null,
"transcript": "ENST00000475882.6",
"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": 615,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475882.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.91A>G",
"hgvs_p": null,
"transcript": "ENST00000489458.6",
"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": 790,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000489458.6"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.128A>G",
"hgvs_p": null,
"transcript": "ENST00000490149.6",
"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": 873,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490149.6"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.237A>G",
"hgvs_p": null,
"transcript": "ENST00000524387.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 576,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000524387.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.278A>G",
"hgvs_p": null,
"transcript": "ENST00000525700.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 541,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000525700.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.228A>G",
"hgvs_p": null,
"transcript": "ENST00000530421.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 592,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000530421.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
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"hgvs_c": "n.254A>G",
"hgvs_p": null,
"transcript": "ENST00000531575.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 576,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000531575.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.291A>G",
"hgvs_p": null,
"transcript": "ENST00000532021.5",
"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": 696,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000532021.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.223A>G",
"hgvs_p": null,
"transcript": "ENST00000532856.5",
"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": 573,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000532856.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.230A>G",
"hgvs_p": null,
"transcript": "ENST00000534658.5",
"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": 763,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000534658.5"
}
],
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"dbsnp": "rs146718518",
"frequency_reference_population": 0.000023553914,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.000019163,
"gnomad_genomes_af": 0.0000657142,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13811182975769043,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.095,
"revel_prediction": "Benign",
"alphamissense_score": 0.0878,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.939,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001143676.3",
"gene_symbol": "SGK1",
"hgnc_id": 10810,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Ile152Val"
}
],
"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
}