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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: 10-97451724-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97451724&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 97451724,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032327.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "NM_198046.3",
"protein_id": "NP_932163.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 377,
"cds_start": 49,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393760.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198046.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000393760.6",
"protein_id": "ENSP00000377357.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 377,
"cds_start": 49,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198046.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393760.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000370854.7",
"protein_id": "ENSP00000359891.3",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 377,
"cds_start": 49,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370854.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000352634.8",
"protein_id": "ENSP00000345383.4",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 361,
"cds_start": 49,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352634.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000353979.7",
"protein_id": "ENSP00000323360.3",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 338,
"cds_start": 49,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353979.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000345745.9",
"protein_id": "ENSP00000304487.8",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 296,
"cds_start": 49,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345745.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000862048.1",
"protein_id": "ENSP00000532107.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 384,
"cds_start": 49,
"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": "ENST00000862048.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "NM_032327.4",
"protein_id": "NP_115703.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 377,
"cds_start": 49,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032327.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000951312.1",
"protein_id": "ENSP00000621371.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 377,
"cds_start": 49,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951312.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000951305.1",
"protein_id": "ENSP00000621364.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 376,
"cds_start": 49,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951305.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "NM_198043.3",
"protein_id": "NP_932160.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 361,
"cds_start": 49,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198043.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000370842.6",
"protein_id": "ENSP00000359879.1",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 361,
"cds_start": 49,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370842.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000862058.1",
"protein_id": "ENSP00000532117.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 361,
"cds_start": 49,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862058.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000916030.1",
"protein_id": "ENSP00000586089.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 361,
"cds_start": 49,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916030.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000916031.1",
"protein_id": "ENSP00000586090.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 361,
"cds_start": 49,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916031.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000951308.1",
"protein_id": "ENSP00000621367.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 360,
"cds_start": 49,
"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": "ENST00000951308.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "NM_001287803.2",
"protein_id": "NP_001274732.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 359,
"cds_start": 49,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287803.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000862049.1",
"protein_id": "ENSP00000532108.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 345,
"cds_start": 49,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862049.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000862056.1",
"protein_id": "ENSP00000532115.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 345,
"cds_start": 49,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862056.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "NM_198044.3",
"protein_id": "NP_932161.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 338,
"cds_start": 49,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198044.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000862047.1",
"protein_id": "ENSP00000532106.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 338,
"cds_start": 49,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862047.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"transcript": "ENST00000951309.1",
"protein_id": "ENSP00000621368.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 338,
"cds_start": 49,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "c.-129C>T",
"hgvs_p": null,
"transcript": "ENST00000417044.1",
"protein_id": "ENSP00000396286.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417044.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC16",
"gene_hgnc_id": 20714,
"hgvs_c": "n.-12C>T",
"hgvs_p": null,
"transcript": "ENST00000495735.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000495735.5"
}
],
"gene_symbol": "ZDHHC16",
"gene_hgnc_id": 20714,
"dbsnp": "rs376949987",
"frequency_reference_population": 0.00013389453,
"hom_count_reference_population": 0,
"allele_count_reference_population": 216,
"gnomad_exomes_af": 0.000143057,
"gnomad_genomes_af": 0.0000459746,
"gnomad_exomes_ac": 209,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2675629258155823,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.192,
"revel_prediction": "Benign",
"alphamissense_score": 0.4477,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.2,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_032327.4",
"gene_symbol": "ZDHHC16",
"hgnc_id": 20714,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys"
}
],
"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
}