← Back to variant description
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: 17-60158357-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=60158357&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 60158357,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000717.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "NM_000717.5",
"protein_id": "NP_000708.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 312,
"cds_start": 655,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300900.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000717.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000300900.9",
"protein_id": "ENSP00000300900.3",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 312,
"cds_start": 655,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000717.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300900.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Cys",
"transcript": "ENST00000904866.1",
"protein_id": "ENSP00000574925.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 394,
"cds_start": 901,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904866.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.676C>T",
"hgvs_p": "p.Arg226Cys",
"transcript": "ENST00000904870.1",
"protein_id": "ENSP00000574929.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 319,
"cds_start": 676,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904870.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000957246.1",
"protein_id": "ENSP00000627305.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 312,
"cds_start": 655,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957246.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "ENST00000957247.1",
"protein_id": "ENSP00000627306.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 312,
"cds_start": 655,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957247.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Arg217Cys",
"transcript": "ENST00000904867.1",
"protein_id": "ENSP00000574926.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 310,
"cds_start": 649,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904867.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201Cys",
"transcript": "ENST00000904868.1",
"protein_id": "ENSP00000574927.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 294,
"cds_start": 601,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904868.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Cys",
"transcript": "ENST00000904869.1",
"protein_id": "ENSP00000574928.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 279,
"cds_start": 556,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904869.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.499C>T",
"hgvs_p": "p.Arg167Cys",
"transcript": "ENST00000904871.1",
"protein_id": "ENSP00000574930.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 260,
"cds_start": 499,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904871.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.271C>T",
"hgvs_p": "p.Arg91Cys",
"transcript": "ENST00000590203.1",
"protein_id": "ENSP00000465837.1",
"transcript_support_level": 3,
"aa_start": 91,
"aa_end": null,
"aa_length": 184,
"cds_start": 271,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590203.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.94C>T",
"hgvs_p": "p.Arg32Cys",
"transcript": "ENST00000587265.1",
"protein_id": "ENSP00000464757.1",
"transcript_support_level": 3,
"aa_start": 32,
"aa_end": null,
"aa_length": 98,
"cds_start": 94,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587265.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.727C>T",
"hgvs_p": "p.Arg243Cys",
"transcript": "XM_005257639.4",
"protein_id": "XP_005257696.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 336,
"cds_start": 727,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257639.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.727C>T",
"hgvs_p": "p.Arg243Cys",
"transcript": "XM_047436650.1",
"protein_id": "XP_047292606.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 336,
"cds_start": 727,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436650.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.727C>T",
"hgvs_p": "p.Arg243Cys",
"transcript": "XM_047436651.1",
"protein_id": "XP_047292607.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 336,
"cds_start": 727,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436651.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.727C>T",
"hgvs_p": "p.Arg243Cys",
"transcript": "XM_047436652.1",
"protein_id": "XP_047292608.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 336,
"cds_start": 727,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436652.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "XM_047436653.1",
"protein_id": "XP_047292609.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 312,
"cds_start": 655,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436653.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "XM_047436654.1",
"protein_id": "XP_047292610.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 312,
"cds_start": 655,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436654.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "XM_047436655.1",
"protein_id": "XP_047292611.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 312,
"cds_start": 655,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436655.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "XM_047436656.1",
"protein_id": "XP_047292612.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 312,
"cds_start": 655,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436656.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Arg153Cys",
"transcript": "XM_011525183.3",
"protein_id": "XP_011523485.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 246,
"cds_start": 457,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525183.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "n.*89C>T",
"hgvs_p": null,
"transcript": "ENST00000586876.1",
"protein_id": "ENSP00000467465.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000586876.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "n.717C>T",
"hgvs_p": null,
"transcript": "NR_137422.2",
"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": "NR_137422.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "n.*89C>T",
"hgvs_p": null,
"transcript": "ENST00000586876.1",
"protein_id": "ENSP00000467465.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000586876.1"
}
],
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"dbsnp": "rs121434551",
"frequency_reference_population": 0.000027260921,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.000028047,
"gnomad_genomes_af": 0.0000197112,
"gnomad_exomes_ac": 41,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.940277636051178,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.771,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5355,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.86,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5,PP3_Strong,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 5,
"pathogenic_score": 6,
"criteria": [
"PM5",
"PP3_Strong",
"BS1_Supporting",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000717.5",
"gene_symbol": "CA4",
"hgnc_id": 1375,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}