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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: 19-9811350-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=9811350&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 9811350,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017703.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"transcript": "NM_017703.3",
"protein_id": "NP_060173.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 326,
"cds_start": 527,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000247977.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017703.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"transcript": "ENST00000247977.9",
"protein_id": "ENSP00000247977.3",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 326,
"cds_start": 527,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017703.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000247977.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000591009.1",
"protein_id": "ENSP00000468369.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 273,
"cds_start": 368,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591009.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "c.*379G>A",
"hgvs_p": null,
"transcript": "ENST00000586651.5",
"protein_id": "ENSP00000467059.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586651.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Arg143Gln",
"transcript": "NM_001316936.2",
"protein_id": "NP_001303865.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 293,
"cds_start": 428,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316936.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "NM_001316937.2",
"protein_id": "NP_001303866.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 273,
"cds_start": 368,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316937.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "NM_001316938.2",
"protein_id": "NP_001303867.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 273,
"cds_start": 368,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316938.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "NM_001316939.2",
"protein_id": "NP_001303868.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 273,
"cds_start": 368,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316939.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "NM_001316940.2",
"protein_id": "NP_001303869.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 273,
"cds_start": 368,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316940.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "NM_001316941.2",
"protein_id": "NP_001303870.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 273,
"cds_start": 368,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316941.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "NM_001316942.2",
"protein_id": "NP_001303871.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 273,
"cds_start": 368,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316942.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000585379.5",
"protein_id": "ENSP00000467359.1",
"transcript_support_level": 2,
"aa_start": 123,
"aa_end": null,
"aa_length": 273,
"cds_start": 368,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585379.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "c.401G>A",
"hgvs_p": "p.Arg134Gln",
"transcript": "XM_006722782.5",
"protein_id": "XP_006722845.2",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 284,
"cds_start": 401,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722782.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "c.*403G>A",
"hgvs_p": null,
"transcript": "ENST00000589626.5",
"protein_id": "ENSP00000464858.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": null,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589626.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "c.*377G>A",
"hgvs_p": null,
"transcript": "ENST00000592067.1",
"protein_id": "ENSP00000464784.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": null,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592067.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "c.*357G>A",
"hgvs_p": null,
"transcript": "ENST00000588922.5",
"protein_id": "ENSP00000468033.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 47,
"cds_start": null,
"cds_end": null,
"cds_length": 144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588922.5"
},
{
"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": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "n.*581G>A",
"hgvs_p": null,
"transcript": "ENST00000589438.1",
"protein_id": "ENSP00000467523.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000589438.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "n.*570G>A",
"hgvs_p": null,
"transcript": "ENST00000590808.1",
"protein_id": "ENSP00000466142.1",
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000590808.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "n.*446G>A",
"hgvs_p": null,
"transcript": "ENST00000592732.5",
"protein_id": "ENSP00000468766.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000592732.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "n.*581G>A",
"hgvs_p": null,
"transcript": "ENST00000589438.1",
"protein_id": "ENSP00000467523.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000589438.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "n.*570G>A",
"hgvs_p": null,
"transcript": "ENST00000590808.1",
"protein_id": "ENSP00000466142.1",
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000590808.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "n.*446G>A",
"hgvs_p": null,
"transcript": "ENST00000592732.5",
"protein_id": "ENSP00000468766.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000592732.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "c.*104G>A",
"hgvs_p": null,
"transcript": "ENST00000590277.1",
"protein_id": "ENSP00000467467.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590277.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"hgvs_c": "c.*244G>A",
"hgvs_p": null,
"transcript": "ENST00000586469.1",
"protein_id": "ENSP00000467859.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 69,
"cds_start": null,
"cds_end": null,
"cds_length": 210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586469.1"
}
],
"gene_symbol": "FBXL12",
"gene_hgnc_id": 13611,
"dbsnp": "rs147388336",
"frequency_reference_population": 0.00007263625,
"hom_count_reference_population": 0,
"allele_count_reference_population": 117,
"gnomad_exomes_af": 0.0000740454,
"gnomad_genomes_af": 0.0000591319,
"gnomad_exomes_ac": 108,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08112969994544983,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.072,
"revel_prediction": "Benign",
"alphamissense_score": 0.0698,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.728,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017703.3",
"gene_symbol": "FBXL12",
"hgnc_id": 13611,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln"
}
],
"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
}