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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: 6-166448738-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=166448738&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 166448738,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001318936.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1318G>C",
"hgvs_p": "p.Glu440Gln",
"transcript": "NM_021135.6",
"protein_id": "NP_066958.2",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 733,
"cds_start": 1318,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265678.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021135.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1318G>C",
"hgvs_p": "p.Glu440Gln",
"transcript": "ENST00000265678.9",
"protein_id": "ENSP00000265678.4",
"transcript_support_level": 1,
"aa_start": 440,
"aa_end": null,
"aa_length": 733,
"cds_start": 1318,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021135.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265678.9"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"transcript": "ENST00000481261.6",
"protein_id": "ENSP00000422484.1",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 644,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481261.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1393G>C",
"hgvs_p": "p.Glu465Gln",
"transcript": "NM_001318936.2",
"protein_id": "NP_001305865.2",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 758,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318936.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1393G>C",
"hgvs_p": "p.Glu465Gln",
"transcript": "ENST00000510118.5",
"protein_id": "ENSP00000422435.1",
"transcript_support_level": 2,
"aa_start": 465,
"aa_end": null,
"aa_length": 758,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510118.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1393G>C",
"hgvs_p": "p.Glu465Gln",
"transcript": "ENST00000967274.1",
"protein_id": "ENSP00000637333.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 758,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967274.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Glu448Gln",
"transcript": "NM_001006932.3",
"protein_id": "NP_001006933.3",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 741,
"cds_start": 1342,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006932.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Glu448Gln",
"transcript": "ENST00000503859.5",
"protein_id": "ENSP00000427015.1",
"transcript_support_level": 2,
"aa_start": 448,
"aa_end": null,
"aa_length": 741,
"cds_start": 1342,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503859.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Glu429Gln",
"transcript": "ENST00000907318.1",
"protein_id": "ENSP00000577377.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 722,
"cds_start": 1285,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907318.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1270G>C",
"hgvs_p": "p.Glu424Gln",
"transcript": "ENST00000714395.1",
"protein_id": "ENSP00000519662.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 717,
"cds_start": 1270,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714395.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1318G>C",
"hgvs_p": "p.Glu440Gln",
"transcript": "ENST00000907315.1",
"protein_id": "ENSP00000577374.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 703,
"cds_start": 1318,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907315.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1198G>C",
"hgvs_p": "p.Glu400Gln",
"transcript": "ENST00000907314.1",
"protein_id": "ENSP00000577373.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 693,
"cds_start": 1198,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907314.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1318G>C",
"hgvs_p": "p.Glu440Gln",
"transcript": "ENST00000935351.1",
"protein_id": "ENSP00000605410.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 679,
"cds_start": 1318,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935351.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1318G>C",
"hgvs_p": "p.Glu440Gln",
"transcript": "ENST00000907313.1",
"protein_id": "ENSP00000577372.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 668,
"cds_start": 1318,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907313.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1201G>C",
"hgvs_p": "p.Glu401Gln",
"transcript": "ENST00000907317.1",
"protein_id": "ENSP00000577376.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 664,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907317.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1318G>C",
"hgvs_p": "p.Glu440Gln",
"transcript": "ENST00000907316.1",
"protein_id": "ENSP00000577375.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 650,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907316.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"transcript": "NM_001318938.1",
"protein_id": "NP_001305867.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 644,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318938.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"transcript": "ENST00000405189.7",
"protein_id": "ENSP00000386050.3",
"transcript_support_level": 2,
"aa_start": 351,
"aa_end": null,
"aa_length": 644,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405189.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1024G>C",
"hgvs_p": "p.Glu342Gln",
"transcript": "NM_001318937.2",
"protein_id": "NP_001305866.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 635,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318937.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1402G>C",
"hgvs_p": "p.Glu468Gln",
"transcript": "XM_006715549.4",
"protein_id": "XP_006715612.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 761,
"cds_start": 1402,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715549.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1312G>C",
"hgvs_p": "p.Glu438Gln",
"transcript": "XM_047419233.1",
"protein_id": "XP_047275189.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 731,
"cds_start": 1312,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419233.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1270G>C",
"hgvs_p": "p.Glu424Gln",
"transcript": "XM_047419234.1",
"protein_id": "XP_047275190.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 717,
"cds_start": 1270,
"cds_end": null,
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{
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
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"gene_symbol": "RPS6KA2",
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"transcript": "ENST00000491836.2",
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000491836.2"
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],
"gene_symbol": "RPS6KA2",
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"dbsnp": "rs1450913451",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84746e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7439960241317749,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.331,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.183,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.354,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001318936.2",
"gene_symbol": "RPS6KA2",
"hgnc_id": 10431,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1393G>C",
"hgvs_p": "p.Glu465Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}