← 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: 17-7703032-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7703032&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7703032,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_018081.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1308T>C",
"hgvs_p": "p.Ala436Ala",
"transcript": "NM_001143992.2",
"protein_id": "NP_001137464.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 548,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 1749,
"mane_select": "ENST00000396463.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143992.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1308T>C",
"hgvs_p": "p.Ala436Ala",
"transcript": "ENST00000396463.7",
"protein_id": "ENSP00000379727.3",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 548,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 1749,
"mane_select": "NM_001143992.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396463.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1308T>C",
"hgvs_p": "p.Ala436Ala",
"transcript": "ENST00000316024.9",
"protein_id": "ENSP00000324203.5",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 548,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 3656,
"cdna_end": null,
"cdna_length": 4011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316024.9"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1308T>C",
"hgvs_p": "p.Ala436Ala",
"transcript": "ENST00000431639.6",
"protein_id": "ENSP00000397219.2",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 548,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431639.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1308T>C",
"hgvs_p": "p.Ala436Ala",
"transcript": "ENST00000457584.6",
"protein_id": "ENSP00000411061.2",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 548,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457584.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1209T>C",
"hgvs_p": "p.Ala403Ala",
"transcript": "ENST00000534050.5",
"protein_id": "ENSP00000434999.1",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 515,
"cds_start": 1209,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534050.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1473T>C",
"hgvs_p": "p.Ala491Ala",
"transcript": "ENST00000932535.1",
"protein_id": "ENSP00000602594.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 603,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932535.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1326T>C",
"hgvs_p": "p.Ala442Ala",
"transcript": "ENST00000868854.1",
"protein_id": "ENSP00000538913.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 554,
"cds_start": 1326,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 1767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868854.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1326T>C",
"hgvs_p": "p.Ala442Ala",
"transcript": "ENST00000932533.1",
"protein_id": "ENSP00000602592.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 554,
"cds_start": 1326,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932533.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1308T>C",
"hgvs_p": "p.Ala436Ala",
"transcript": "NM_001143990.2",
"protein_id": "NP_001137462.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 548,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143990.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1308T>C",
"hgvs_p": "p.Ala436Ala",
"transcript": "NM_001143991.2",
"protein_id": "NP_001137463.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 548,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143991.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1308T>C",
"hgvs_p": "p.Ala436Ala",
"transcript": "NM_018081.2",
"protein_id": "NP_060551.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 548,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018081.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1257T>C",
"hgvs_p": "p.Ala419Ala",
"transcript": "ENST00000932534.1",
"protein_id": "ENSP00000602593.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 531,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932534.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1251T>C",
"hgvs_p": "p.Ala417Ala",
"transcript": "ENST00000868853.1",
"protein_id": "ENSP00000538912.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 529,
"cds_start": 1251,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868853.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1209T>C",
"hgvs_p": "p.Ala403Ala",
"transcript": "ENST00000964568.1",
"protein_id": "ENSP00000634627.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 515,
"cds_start": 1209,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964568.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1308T>C",
"hgvs_p": "p.Ala436Ala",
"transcript": "ENST00000698742.1",
"protein_id": "ENSP00000513904.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 469,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1958,
"cdna_end": null,
"cdna_length": 2124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698742.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.900T>C",
"hgvs_p": "p.Ala300Ala",
"transcript": "ENST00000698747.1",
"protein_id": "ENSP00000513909.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 412,
"cds_start": 900,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 1255,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698747.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "c.1268+186T>C",
"hgvs_p": null,
"transcript": "ENST00000698746.1",
"protein_id": "ENSP00000513908.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": null,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698746.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*136T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 504,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000463804.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.2170T>C",
"hgvs_p": null,
"transcript": "ENST00000467699.5",
"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": 2525,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000467699.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.643T>C",
"hgvs_p": null,
"transcript": "ENST00000471973.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 998,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000471973.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.152T>C",
"hgvs_p": null,
"transcript": "ENST00000498114.1",
"protein_id": null,
"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": 507,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000498114.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*476T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000498311.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*1041T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698743.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*968T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698744.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*752T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698745.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*136T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 504,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000463804.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*476T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000498311.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*1041T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698743.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*968T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698744.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"hgvs_c": "n.*752T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698745.1"
}
],
"gene_symbol": "WRAP53",
"gene_hgnc_id": 25522,
"dbsnp": "rs34016213",
"frequency_reference_population": 0.0122471815,
"hom_count_reference_population": 834,
"allele_count_reference_population": 19767,
"gnomad_exomes_af": 0.00885391,
"gnomad_genomes_af": 0.0448463,
"gnomad_exomes_ac": 12943,
"gnomad_genomes_ac": 6824,
"gnomad_exomes_homalt": 403,
"gnomad_genomes_homalt": 431,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"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": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.275,
"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,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_018081.2",
"gene_symbol": "WRAP53",
"hgnc_id": 25522,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD,SD,Unknown",
"hgvs_c": "c.1308T>C",
"hgvs_p": "p.Ala436Ala"
}
],
"clinvar_disease": " autosomal recessive 3,Dyskeratosis congenita,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Dyskeratosis congenita, autosomal recessive 3|not provided|Dyskeratosis congenita",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}