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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: 4-120695123-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=120695123&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 120695123,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001379104.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.1881A>G",
"hgvs_p": "p.Val627Val",
"transcript": "NM_018699.4",
"protein_id": "NP_061169.2",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 630,
"cds_start": 1881,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1999,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": "ENST00000264808.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018699.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.1881A>G",
"hgvs_p": "p.Val627Val",
"transcript": "ENST00000264808.8",
"protein_id": "ENSP00000264808.3",
"transcript_support_level": 1,
"aa_start": 627,
"aa_end": null,
"aa_length": 630,
"cds_start": 1881,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1999,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": "NM_018699.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264808.8"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.1788A>G",
"hgvs_p": "p.Val596Val",
"transcript": "ENST00000428209.6",
"protein_id": "ENSP00000404832.2",
"transcript_support_level": 1,
"aa_start": 596,
"aa_end": null,
"aa_length": 599,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428209.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.*196A>G",
"hgvs_p": null,
"transcript": "ENST00000515109.5",
"protein_id": "ENSP00000422309.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": null,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515109.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "n.2384A>G",
"hgvs_p": null,
"transcript": "ENST00000505484.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000505484.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.1914A>G",
"hgvs_p": "p.Val638Val",
"transcript": "NM_001379104.1",
"protein_id": "NP_001366033.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 641,
"cds_start": 1914,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 5240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379104.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.1914A>G",
"hgvs_p": "p.Val638Val",
"transcript": "ENST00000940463.1",
"protein_id": "ENSP00000610522.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 641,
"cds_start": 1914,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 2312,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940463.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.1821A>G",
"hgvs_p": "p.Val607Val",
"transcript": "ENST00000940462.1",
"protein_id": "ENSP00000610521.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 610,
"cds_start": 1821,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 5265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940462.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.1788A>G",
"hgvs_p": "p.Val596Val",
"transcript": "NM_001300823.2",
"protein_id": "NP_001287752.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 599,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 5114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300823.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.1776A>G",
"hgvs_p": "p.Val592Val",
"transcript": "ENST00000898038.1",
"protein_id": "ENSP00000568097.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 595,
"cds_start": 1776,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1951,
"cdna_end": null,
"cdna_length": 5159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898038.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.1704A>G",
"hgvs_p": "p.Val568Val",
"transcript": "ENST00000898039.1",
"protein_id": "ENSP00000568098.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 571,
"cds_start": 1704,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1935,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898039.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Val561Val",
"transcript": "NM_001379106.1",
"protein_id": "NP_001366035.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 564,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 5009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379106.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Val561Val",
"transcript": "ENST00000940461.1",
"protein_id": "ENSP00000610520.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 564,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 2164,
"cdna_end": null,
"cdna_length": 5372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940461.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.1836A>G",
"hgvs_p": "p.Val612Val",
"transcript": "XM_017007668.3",
"protein_id": "XP_016863157.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 615,
"cds_start": 1836,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 4657,
"cdna_end": null,
"cdna_length": 7865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007668.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.1821A>G",
"hgvs_p": "p.Val607Val",
"transcript": "XM_011531563.3",
"protein_id": "XP_011529865.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 610,
"cds_start": 1821,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531563.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.1809A>G",
"hgvs_p": "p.Val603Val",
"transcript": "XM_011531564.3",
"protein_id": "XP_011529866.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 606,
"cds_start": 1809,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1927,
"cdna_end": null,
"cdna_length": 5135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531564.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.1776A>G",
"hgvs_p": "p.Val592Val",
"transcript": "XM_047449554.1",
"protein_id": "XP_047305510.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 595,
"cds_start": 1776,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 5102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449554.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.939A>G",
"hgvs_p": "p.Val313Val",
"transcript": "XM_017007671.2",
"protein_id": "XP_016863160.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 316,
"cds_start": 939,
"cds_end": null,
"cds_length": 951,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 4453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007671.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.*196A>G",
"hgvs_p": null,
"transcript": "NM_001300824.2",
"protein_id": "NP_001287753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": null,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300824.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.1762-10098A>G",
"hgvs_p": null,
"transcript": "XM_011531566.4",
"protein_id": "XP_011529868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": null,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2614,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531566.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.1669-10098A>G",
"hgvs_p": null,
"transcript": "XM_047449557.1",
"protein_id": "XP_047305513.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": null,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449557.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.1636-10098A>G",
"hgvs_p": null,
"transcript": "XM_047449558.1",
"protein_id": "XP_047305514.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 547,
"cds_start": null,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449558.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "n.104-10098A>G",
"hgvs_p": null,
"transcript": "ENST00000513741.1",
"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": 210,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000513741.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "n.*35A>G",
"hgvs_p": null,
"transcript": "ENST00000506065.1",
"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": 696,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000506065.1"
}
],
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.46,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001379104.1",
"gene_symbol": "PRDM5",
"hgnc_id": 9349,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1914A>G",
"hgvs_p": "p.Val638Val"
}
],
"clinvar_disease": "Cardiovascular phenotype",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Cardiovascular phenotype",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}