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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: 2-172558844-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=172558844&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 172558844,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001278549.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.333A>C",
"hgvs_p": "p.Gln111His",
"transcript": "NM_002610.5",
"protein_id": "NP_002601.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 436,
"cds_start": 333,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282077.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002610.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.333A>C",
"hgvs_p": "p.Gln111His",
"transcript": "ENST00000282077.8",
"protein_id": "ENSP00000282077.3",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 436,
"cds_start": 333,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002610.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282077.8"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.333A>C",
"hgvs_p": "p.Gln111His",
"transcript": "ENST00000392571.6",
"protein_id": "ENSP00000376352.2",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 456,
"cds_start": 333,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392571.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.333A>C",
"hgvs_p": "p.Gln111His",
"transcript": "ENST00000410055.5",
"protein_id": "ENSP00000386985.1",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 436,
"cds_start": 333,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410055.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.333A>C",
"hgvs_p": "p.Gln111His",
"transcript": "ENST00000957078.1",
"protein_id": "ENSP00000627137.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 461,
"cds_start": 333,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957078.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.333A>C",
"hgvs_p": "p.Gln111His",
"transcript": "NM_001278549.2",
"protein_id": "NP_001265478.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 456,
"cds_start": 333,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278549.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.333A>C",
"hgvs_p": "p.Gln111His",
"transcript": "ENST00000957079.1",
"protein_id": "ENSP00000627138.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 455,
"cds_start": 333,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957079.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.333A>C",
"hgvs_p": "p.Gln111His",
"transcript": "ENST00000851218.1",
"protein_id": "ENSP00000521277.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 441,
"cds_start": 333,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851218.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.333A>C",
"hgvs_p": "p.Gln111His",
"transcript": "ENST00000939646.1",
"protein_id": "ENSP00000609705.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 427,
"cds_start": 333,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939646.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.333A>C",
"hgvs_p": "p.Gln111His",
"transcript": "ENST00000851219.1",
"protein_id": "ENSP00000521278.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 410,
"cds_start": 333,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851219.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.159A>C",
"hgvs_p": "p.Gln53His",
"transcript": "ENST00000416991.5",
"protein_id": "ENSP00000399160.1",
"transcript_support_level": 5,
"aa_start": 53,
"aa_end": null,
"aa_length": 228,
"cds_start": 159,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416991.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.105A>C",
"hgvs_p": "p.Gln35His",
"transcript": "ENST00000439519.1",
"protein_id": "ENSP00000388366.1",
"transcript_support_level": 4,
"aa_start": 35,
"aa_end": null,
"aa_length": 153,
"cds_start": 105,
"cds_end": null,
"cds_length": 463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439519.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.105A>C",
"hgvs_p": "p.Gln35His",
"transcript": "ENST00000443353.5",
"protein_id": "ENSP00000399558.1",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 153,
"cds_start": 105,
"cds_end": null,
"cds_length": 463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443353.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.105A>C",
"hgvs_p": "p.Gln35His",
"transcript": "XM_011511343.3",
"protein_id": "XP_011509645.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 380,
"cds_start": 105,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511343.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.105A>C",
"hgvs_p": "p.Gln35His",
"transcript": "XM_011511344.3",
"protein_id": "XP_011509646.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 380,
"cds_start": 105,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511344.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.105A>C",
"hgvs_p": "p.Gln35His",
"transcript": "XM_011511347.3",
"protein_id": "XP_011509649.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 380,
"cds_start": 105,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511347.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.105A>C",
"hgvs_p": "p.Gln35His",
"transcript": "XM_011511345.4",
"protein_id": "XP_011509647.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 360,
"cds_start": 105,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511345.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.105A>C",
"hgvs_p": "p.Gln35His",
"transcript": "XM_047444736.1",
"protein_id": "XP_047300692.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 360,
"cds_start": 105,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444736.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.333A>C",
"hgvs_p": "p.Gln111His",
"transcript": "XM_047444737.1",
"protein_id": "XP_047300693.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 302,
"cds_start": 333,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444737.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.333A>C",
"hgvs_p": "p.Gln111His",
"transcript": "XM_047444738.1",
"protein_id": "XP_047300694.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 282,
"cds_start": 333,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444738.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.333A>C",
"hgvs_p": "p.Gln111His",
"transcript": "XM_006712594.3",
"protein_id": "XP_006712657.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 281,
"cds_start": 333,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712594.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.333A>C",
"hgvs_p": "p.Gln111His",
"transcript": "XM_047444740.1",
"protein_id": "XP_047300696.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 261,
"cds_start": 333,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444740.1"
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_922943.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "n.394A>C",
"hgvs_p": null,
"transcript": "XR_922944.3",
"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_922944.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "n.394A>C",
"hgvs_p": null,
"transcript": "XR_922945.1",
"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_922945.1"
}
],
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"dbsnp": "rs150453953",
"frequency_reference_population": 0.0000031062345,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000274455,
"gnomad_genomes_af": 0.00000656892,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2319273054599762,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.206,
"revel_prediction": "Benign",
"alphamissense_score": 0.3348,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.723,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_001278549.2",
"gene_symbol": "PDK1",
"hgnc_id": 8809,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.333A>C",
"hgvs_p": "p.Gln111His"
}
],
"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
}