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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: 17-7703321-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7703321&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7703321,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000396463.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1482A>G",
"hgvs_p": "p.Glu494Glu",
"transcript": "NM_001143992.2",
"protein_id": "NP_001137464.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 548,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 1749,
"mane_select": "ENST00000396463.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1482A>G",
"hgvs_p": "p.Glu494Glu",
"transcript": "ENST00000396463.7",
"protein_id": "ENSP00000379727.3",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 548,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 1749,
"mane_select": "NM_001143992.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1482A>G",
"hgvs_p": "p.Glu494Glu",
"transcript": "ENST00000316024.9",
"protein_id": "ENSP00000324203.5",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 548,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 3830,
"cdna_end": null,
"cdna_length": 4011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1482A>G",
"hgvs_p": "p.Glu494Glu",
"transcript": "ENST00000431639.6",
"protein_id": "ENSP00000397219.2",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 548,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1482A>G",
"hgvs_p": "p.Glu494Glu",
"transcript": "ENST00000457584.6",
"protein_id": "ENSP00000411061.2",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 548,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1383A>G",
"hgvs_p": "p.Glu461Glu",
"transcript": "ENST00000534050.5",
"protein_id": "ENSP00000434999.1",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 515,
"cds_start": 1383,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1482A>G",
"hgvs_p": "p.Glu494Glu",
"transcript": "NM_001143990.2",
"protein_id": "NP_001137462.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 548,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1482A>G",
"hgvs_p": "p.Glu494Glu",
"transcript": "NM_001143991.2",
"protein_id": "NP_001137463.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 548,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1482A>G",
"hgvs_p": "p.Glu494Glu",
"transcript": "NM_018081.2",
"protein_id": "NP_060551.2",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 548,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1782,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1347A>G",
"hgvs_p": "p.Glu449Glu",
"transcript": "ENST00000698746.1",
"protein_id": "ENSP00000513908.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 503,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1074A>G",
"hgvs_p": "p.Glu358Glu",
"transcript": "ENST00000698747.1",
"protein_id": "ENSP00000513909.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 412,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 1255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*310A>G",
"hgvs_p": null,
"transcript": "ENST00000463804.6",
"protein_id": "ENSP00000465025.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.2344A>G",
"hgvs_p": null,
"transcript": "ENST00000467699.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.817A>G",
"hgvs_p": null,
"transcript": "ENST00000471973.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.326A>G",
"hgvs_p": null,
"transcript": "ENST00000498114.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*650A>G",
"hgvs_p": null,
"transcript": "ENST00000498311.5",
"protein_id": "ENSP00000432991.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*1215A>G",
"hgvs_p": null,
"transcript": "ENST00000698743.1",
"protein_id": "ENSP00000513905.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*1142A>G",
"hgvs_p": null,
"transcript": "ENST00000698744.1",
"protein_id": "ENSP00000513906.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*926A>G",
"hgvs_p": null,
"transcript": "ENST00000698745.1",
"protein_id": "ENSP00000513907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*310A>G",
"hgvs_p": null,
"transcript": "ENST00000463804.6",
"protein_id": "ENSP00000465025.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*650A>G",
"hgvs_p": null,
"transcript": "ENST00000498311.5",
"protein_id": "ENSP00000432991.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*1215A>G",
"hgvs_p": null,
"transcript": "ENST00000698743.1",
"protein_id": "ENSP00000513905.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*1142A>G",
"hgvs_p": null,
"transcript": "ENST00000698744.1",
"protein_id": "ENSP00000513906.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*926A>G",
"hgvs_p": null,
"transcript": "ENST00000698745.1",
"protein_id": "ENSP00000513907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.*67A>G",
"hgvs_p": null,
"transcript": "ENST00000698742.1",
"protein_id": "ENSP00000513904.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": -4,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"dbsnp": "rs140360074",
"frequency_reference_population": 0.0009455427,
"hom_count_reference_population": 9,
"allele_count_reference_population": 1526,
"gnomad_exomes_af": 0.000530171,
"gnomad_genomes_af": 0.00493767,
"gnomad_exomes_ac": 775,
"gnomad_genomes_ac": 751,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"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": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.256,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000396463.7",
"gene_symbol": "WRAP53",
"hgnc_id": 25522,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1482A>G",
"hgvs_p": "p.Glu494Glu"
}
],
"clinvar_disease": "Dyskeratosis congenita,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:3",
"phenotype_combined": "not specified|not provided|Dyskeratosis congenita",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}