← 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: 7-100401094-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100401094&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100401094,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001386010.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1870A>G",
"hgvs_p": "p.Arg624Gly",
"transcript": "NM_001386010.1",
"protein_id": "NP_001372939.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 649,
"cds_start": 1870,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": "ENST00000684423.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386010.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1870A>G",
"hgvs_p": "p.Arg624Gly",
"transcript": "ENST00000684423.1",
"protein_id": "ENSP00000507762.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 649,
"cds_start": 1870,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": "NM_001386010.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684423.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1867A>G",
"hgvs_p": "p.Arg623Gly",
"transcript": "ENST00000398027.6",
"protein_id": "ENSP00000381109.2",
"transcript_support_level": 1,
"aa_start": 623,
"aa_end": null,
"aa_length": 648,
"cds_start": 1867,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2115,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398027.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1354A>G",
"hgvs_p": "p.Arg452Gly",
"transcript": "ENST00000490721.5",
"protein_id": "ENSP00000419187.1",
"transcript_support_level": 1,
"aa_start": 452,
"aa_end": null,
"aa_length": 477,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490721.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289690",
"gene_hgnc_id": null,
"hgvs_c": "c.-750+1482T>C",
"hgvs_p": null,
"transcript": "ENST00000695707.1",
"protein_id": "ENSP00000512107.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695707.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "n.1533A>G",
"hgvs_p": null,
"transcript": "ENST00000490089.1",
"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": 1754,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490089.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1870A>G",
"hgvs_p": "p.Arg624Gly",
"transcript": "ENST00000857286.1",
"protein_id": "ENSP00000527345.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 649,
"cds_start": 1870,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 2397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857286.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1870A>G",
"hgvs_p": "p.Arg624Gly",
"transcript": "ENST00000857298.1",
"protein_id": "ENSP00000527357.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 649,
"cds_start": 1870,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857298.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1867A>G",
"hgvs_p": "p.Arg623Gly",
"transcript": "NM_017984.6",
"protein_id": "NP_060454.3",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 648,
"cds_start": 1867,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017984.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1852A>G",
"hgvs_p": "p.Arg618Gly",
"transcript": "NM_001386016.1",
"protein_id": "NP_001372945.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 643,
"cds_start": 1852,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386016.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1843A>G",
"hgvs_p": "p.Arg615Gly",
"transcript": "ENST00000958742.1",
"protein_id": "ENSP00000628801.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 640,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958742.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1792A>G",
"hgvs_p": "p.Arg598Gly",
"transcript": "ENST00000857297.1",
"protein_id": "ENSP00000527356.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 623,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857297.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1789A>G",
"hgvs_p": "p.Arg597Gly",
"transcript": "ENST00000857288.1",
"protein_id": "ENSP00000527347.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 622,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 2280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857288.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1789A>G",
"hgvs_p": "p.Arg597Gly",
"transcript": "ENST00000857299.1",
"protein_id": "ENSP00000527358.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 622,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857299.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1720A>G",
"hgvs_p": "p.Arg574Gly",
"transcript": "ENST00000857285.1",
"protein_id": "ENSP00000527344.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 599,
"cds_start": 1720,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857285.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1714A>G",
"hgvs_p": "p.Arg572Gly",
"transcript": "ENST00000857293.1",
"protein_id": "ENSP00000527352.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 597,
"cds_start": 1714,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1969,
"cdna_end": null,
"cdna_length": 2189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857293.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1630A>G",
"hgvs_p": "p.Arg544Gly",
"transcript": "ENST00000857296.1",
"protein_id": "ENSP00000527355.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 569,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857296.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1537A>G",
"hgvs_p": "p.Arg513Gly",
"transcript": "ENST00000857294.1",
"protein_id": "ENSP00000527353.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 538,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857294.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1486A>G",
"hgvs_p": "p.Arg496Gly",
"transcript": "ENST00000857287.1",
"protein_id": "ENSP00000527346.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 521,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1758,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857287.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1477A>G",
"hgvs_p": "p.Arg493Gly",
"transcript": "NM_001386012.1",
"protein_id": "NP_001372941.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 518,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386012.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1477A>G",
"hgvs_p": "p.Arg493Gly",
"transcript": "ENST00000857289.1",
"protein_id": "ENSP00000527348.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 518,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1746,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857289.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Arg442Gly",
"transcript": "ENST00000857292.1",
"protein_id": "ENSP00000527351.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 467,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857292.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Arg423Gly",
"transcript": "NM_001386015.1",
"protein_id": "NP_001372944.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 448,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386015.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Arg423Gly",
"transcript": "ENST00000857291.1",
"protein_id": "ENSP00000527349.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 448,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 1756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857291.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1264A>G",
"hgvs_p": "p.Arg422Gly",
"transcript": "ENST00000857295.1",
"protein_id": "ENSP00000527354.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 447,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857295.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1183A>G",
"hgvs_p": "p.Arg395Gly",
"transcript": "ENST00000958743.1",
"protein_id": "ENSP00000628802.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 420,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958743.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Arg248Gly",
"transcript": "NM_001388066.1",
"protein_id": "NP_001374995.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 273,
"cds_start": 742,
"cds_end": null,
"cds_length": 822,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 1507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388066.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.271A>G",
"hgvs_p": "p.Arg91Gly",
"transcript": "ENST00000958741.1",
"protein_id": "ENSP00000628800.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 116,
"cds_start": 271,
"cds_end": null,
"cds_length": 351,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958741.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Arg625Gly",
"transcript": "XM_006716035.5",
"protein_id": "XP_006716098.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 650,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 2145,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716035.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Arg625Gly",
"transcript": "XM_006716036.4",
"protein_id": "XP_006716099.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 650,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716036.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1870A>G",
"hgvs_p": "p.Arg624Gly",
"transcript": "XM_006716038.5",
"protein_id": "XP_006716101.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 649,
"cds_start": 1870,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716038.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1870A>G",
"hgvs_p": "p.Arg624Gly",
"transcript": "XM_047420551.1",
"protein_id": "XP_047276507.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 649,
"cds_start": 1870,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 2381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420551.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1867A>G",
"hgvs_p": "p.Arg623Gly",
"transcript": "XM_047420552.1",
"protein_id": "XP_047276508.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 648,
"cds_start": 1867,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420552.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1792A>G",
"hgvs_p": "p.Arg598Gly",
"transcript": "XM_006716040.5",
"protein_id": "XP_006716103.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 623,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716040.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1789A>G",
"hgvs_p": "p.Arg597Gly",
"transcript": "XM_024446815.2",
"protein_id": "XP_024302583.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 622,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446815.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1789A>G",
"hgvs_p": "p.Arg597Gly",
"transcript": "XM_047420553.1",
"protein_id": "XP_047276509.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 622,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 2078,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420553.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.868A>G",
"hgvs_p": "p.Arg290Gly",
"transcript": "XM_047420554.1",
"protein_id": "XP_047276510.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 315,
"cds_start": 868,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420554.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.*81A>G",
"hgvs_p": null,
"transcript": "ENST00000471336.1",
"protein_id": "ENSP00000418351.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 246,
"cds_start": null,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471336.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.*684A>G",
"hgvs_p": null,
"transcript": "NM_001386017.1",
"protein_id": "NP_001372946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 544,
"cds_start": null,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386017.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.*81A>G",
"hgvs_p": null,
"transcript": "NM_001386013.1",
"protein_id": "NP_001372942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": null,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386013.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.*81A>G",
"hgvs_p": null,
"transcript": "NM_001386018.1",
"protein_id": "NP_001372947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": null,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386018.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.*81A>G",
"hgvs_p": null,
"transcript": "NM_001258008.3",
"protein_id": "NP_001244937.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": null,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258008.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.*81A>G",
"hgvs_p": null,
"transcript": "NM_001386020.1",
"protein_id": "NP_001372949.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": null,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2167,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386020.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.*81A>G",
"hgvs_p": null,
"transcript": "ENST00000360951.8",
"protein_id": "ENSP00000354210.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": null,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360951.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.*81A>G",
"hgvs_p": null,
"transcript": "NM_001386022.1",
"protein_id": "NP_001372951.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": null,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2086,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386022.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.*81A>G",
"hgvs_p": null,
"transcript": "NM_001386023.1",
"protein_id": "NP_001372952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": null,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386023.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.*81A>G",
"hgvs_p": null,
"transcript": "NM_001386009.1",
"protein_id": "NP_001372938.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386009.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.*81A>G",
"hgvs_p": null,
"transcript": "NM_001386019.1",
"protein_id": "NP_001372948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386019.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.*81A>G",
"hgvs_p": null,
"transcript": "NM_001386011.1",
"protein_id": "NP_001372940.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": null,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386011.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.*81A>G",
"hgvs_p": null,
"transcript": "NM_001386021.1",
"protein_id": "NP_001372950.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": null,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386021.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.*81A>G",
"hgvs_p": null,
"transcript": "NM_001386008.1",
"protein_id": "NP_001372937.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386008.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.*81A>G",
"hgvs_p": null,
"transcript": "ENST00000471336.1",
"protein_id": "ENSP00000418351.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 246,
"cds_start": null,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471336.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.*81A>G",
"hgvs_p": null,
"transcript": "XM_005250480.4",
"protein_id": "XP_005250537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": null,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250480.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.*81A>G",
"hgvs_p": null,
"transcript": "XM_017012379.3",
"protein_id": "XP_016867868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": null,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012379.3"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289690",
"gene_hgnc_id": null,
"hgvs_c": "c.-884+1754T>C",
"hgvs_p": null,
"transcript": "ENST00000695664.1",
"protein_id": "ENSP00000512092.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695664.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289690",
"gene_hgnc_id": null,
"hgvs_c": "c.-1208+1482T>C",
"hgvs_p": null,
"transcript": "ENST00000695708.1",
"protein_id": "ENSP00000512108.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695708.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "n.398A>G",
"hgvs_p": null,
"transcript": "ENST00000479315.1",
"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": 666,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479315.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "n.1283A>G",
"hgvs_p": null,
"transcript": "NR_169828.1",
"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": 1505,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169828.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "n.1111A>G",
"hgvs_p": null,
"transcript": "NR_169829.1",
"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": 1333,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169829.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "n.1069A>G",
"hgvs_p": null,
"transcript": "NR_169830.1",
"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": 1291,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169830.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "n.1145A>G",
"hgvs_p": null,
"transcript": "NR_169831.1",
"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": 1367,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169831.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "n.1691A>G",
"hgvs_p": null,
"transcript": "NR_169832.1",
"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": 1913,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169832.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "n.1420A>G",
"hgvs_p": null,
"transcript": "NR_169834.1",
"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": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169834.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "n.948A>G",
"hgvs_p": null,
"transcript": "NR_169835.1",
"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": 1170,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169835.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "n.1223A>G",
"hgvs_p": null,
"transcript": "NR_169836.1",
"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": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169836.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "n.1295A>G",
"hgvs_p": null,
"transcript": "NR_169837.1",
"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": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169837.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "n.1376A>G",
"hgvs_p": null,
"transcript": "NR_169838.1",
"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": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169838.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "n.1086A>G",
"hgvs_p": null,
"transcript": "NR_169839.1",
"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": 1308,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169839.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289691",
"gene_hgnc_id": null,
"hgvs_c": "n.379+1482T>C",
"hgvs_p": null,
"transcript": "ENST00000695665.1",
"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": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000695665.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289691",
"gene_hgnc_id": null,
"hgvs_c": "n.193+1754T>C",
"hgvs_p": null,
"transcript": "ENST00000695703.1",
"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": 1104,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000695703.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289691",
"gene_hgnc_id": null,
"hgvs_c": "n.422+1482T>C",
"hgvs_p": null,
"transcript": "ENST00000695704.1",
"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": 2181,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000695704.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289691",
"gene_hgnc_id": null,
"hgvs_c": "n.379+1482T>C",
"hgvs_p": null,
"transcript": "ENST00000695705.1",
"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": 527,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000695705.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289691",
"gene_hgnc_id": null,
"hgvs_c": "n.224+1754T>C",
"hgvs_p": null,
"transcript": "ENST00000695706.1",
"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": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000695706.1"
}
],
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"dbsnp": "rs763753444",
"frequency_reference_population": 0.000004104287,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410429,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.060155242681503296,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.009,
"revel_prediction": "Benign",
"alphamissense_score": 0.0657,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.835,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001386010.1",
"gene_symbol": "ZCWPW1",
"hgnc_id": 23486,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1870A>G",
"hgvs_p": "p.Arg624Gly"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000695707.1",
"gene_symbol": "ENSG00000289690",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-750+1482T>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000695665.1",
"gene_symbol": "ENSG00000289691",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.379+1482T>C",
"hgvs_p": null
}
],
"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
}