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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: 7-100401897-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100401897&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100401897,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001386010.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1619A>G",
"hgvs_p": "p.Asp540Gly",
"transcript": "NM_001386010.1",
"protein_id": "NP_001372939.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 649,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684423.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386010.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1619A>G",
"hgvs_p": "p.Asp540Gly",
"transcript": "ENST00000684423.1",
"protein_id": "ENSP00000507762.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 649,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001386010.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684423.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.Asp539Gly",
"transcript": "ENST00000398027.6",
"protein_id": "ENSP00000381109.2",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 648,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398027.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1112-561A>G",
"hgvs_p": null,
"transcript": "ENST00000490721.5",
"protein_id": "ENSP00000419187.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": null,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.-749-1855T>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": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "n.1291-561A>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490089.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1619A>G",
"hgvs_p": "p.Asp540Gly",
"transcript": "ENST00000857286.1",
"protein_id": "ENSP00000527345.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 649,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857286.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1619A>G",
"hgvs_p": "p.Asp540Gly",
"transcript": "ENST00000857298.1",
"protein_id": "ENSP00000527357.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 649,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857298.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.Asp539Gly",
"transcript": "NM_017984.6",
"protein_id": "NP_060454.3",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 648,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017984.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1601A>G",
"hgvs_p": "p.Asp534Gly",
"transcript": "NM_001386016.1",
"protein_id": "NP_001372945.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 643,
"cds_start": 1601,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386016.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1592A>G",
"hgvs_p": "p.Asp531Gly",
"transcript": "ENST00000958742.1",
"protein_id": "ENSP00000628801.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 640,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958742.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1541A>G",
"hgvs_p": "p.Asp514Gly",
"transcript": "ENST00000857297.1",
"protein_id": "ENSP00000527356.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 623,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857297.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "ENST00000857288.1",
"protein_id": "ENSP00000527347.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 622,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857288.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "ENST00000857299.1",
"protein_id": "ENSP00000527358.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 622,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857299.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1379A>G",
"hgvs_p": "p.Asp460Gly",
"transcript": "ENST00000857296.1",
"protein_id": "ENSP00000527355.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 569,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857296.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1622A>G",
"hgvs_p": "p.Asp541Gly",
"transcript": "NM_001386017.1",
"protein_id": "NP_001372946.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 544,
"cds_start": 1622,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386017.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1286A>G",
"hgvs_p": "p.Asp429Gly",
"transcript": "ENST00000857294.1",
"protein_id": "ENSP00000527353.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 538,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857294.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1226A>G",
"hgvs_p": "p.Asp409Gly",
"transcript": "NM_001386012.1",
"protein_id": "NP_001372941.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 518,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386012.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1226A>G",
"hgvs_p": "p.Asp409Gly",
"transcript": "ENST00000857289.1",
"protein_id": "ENSP00000527348.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 518,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857289.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1016A>G",
"hgvs_p": "p.Asp339Gly",
"transcript": "NM_001386015.1",
"protein_id": "NP_001372944.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 448,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386015.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1016A>G",
"hgvs_p": "p.Asp339Gly",
"transcript": "ENST00000857291.1",
"protein_id": "ENSP00000527349.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 448,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857291.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1013A>G",
"hgvs_p": "p.Asp338Gly",
"transcript": "ENST00000857295.1",
"protein_id": "ENSP00000527354.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 447,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"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": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "n.1178-561A>G",
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"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": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "n.706-561A>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": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "n.844-561A>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169839.1"
}
],
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"dbsnp": "rs377758789",
"frequency_reference_population": 0.00006760168,
"hom_count_reference_population": 0,
"allele_count_reference_population": 109,
"gnomad_exomes_af": 0.0000698558,
"gnomad_genomes_af": 0.0000459812,
"gnomad_exomes_ac": 102,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21988773345947266,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.638,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0907,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.942,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001386010.1",
"gene_symbol": "ZCWPW1",
"hgnc_id": 23486,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1619A>G",
"hgvs_p": "p.Asp540Gly"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000695707.1",
"gene_symbol": "ENSG00000289690",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-749-1855T>C",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000695665.1",
"gene_symbol": "ENSG00000289691",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.379+2285T>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
}