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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: 7-100401162-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100401162&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100401162,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001386010.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"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.1802G>T",
"hgvs_p": "p.Gly601Val",
"transcript": "NM_001386010.1",
"protein_id": "NP_001372939.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 649,
"cds_start": 1802,
"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": "G",
"aa_alt": "V",
"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.1802G>T",
"hgvs_p": "p.Gly601Val",
"transcript": "ENST00000684423.1",
"protein_id": "ENSP00000507762.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 649,
"cds_start": 1802,
"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": "G",
"aa_alt": "V",
"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.1799G>T",
"hgvs_p": "p.Gly600Val",
"transcript": "ENST00000398027.6",
"protein_id": "ENSP00000381109.2",
"transcript_support_level": 1,
"aa_start": 600,
"aa_end": null,
"aa_length": 648,
"cds_start": 1799,
"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": "G",
"aa_alt": "V",
"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.1286G>T",
"hgvs_p": "p.Gly429Val",
"transcript": "ENST00000490721.5",
"protein_id": "ENSP00000419187.1",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 477,
"cds_start": 1286,
"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.-750+1550C>A",
"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": [
"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.1465G>T",
"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": "G",
"aa_alt": "V",
"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.1802G>T",
"hgvs_p": "p.Gly601Val",
"transcript": "ENST00000857286.1",
"protein_id": "ENSP00000527345.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 649,
"cds_start": 1802,
"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": "G",
"aa_alt": "V",
"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.1802G>T",
"hgvs_p": "p.Gly601Val",
"transcript": "ENST00000857298.1",
"protein_id": "ENSP00000527357.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 649,
"cds_start": 1802,
"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": "G",
"aa_alt": "V",
"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.1799G>T",
"hgvs_p": "p.Gly600Val",
"transcript": "NM_017984.6",
"protein_id": "NP_060454.3",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 648,
"cds_start": 1799,
"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": "G",
"aa_alt": "V",
"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.1784G>T",
"hgvs_p": "p.Gly595Val",
"transcript": "NM_001386016.1",
"protein_id": "NP_001372945.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 643,
"cds_start": 1784,
"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": "G",
"aa_alt": "V",
"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.1775G>T",
"hgvs_p": "p.Gly592Val",
"transcript": "ENST00000958742.1",
"protein_id": "ENSP00000628801.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 640,
"cds_start": 1775,
"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": "G",
"aa_alt": "V",
"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.1724G>T",
"hgvs_p": "p.Gly575Val",
"transcript": "ENST00000857297.1",
"protein_id": "ENSP00000527356.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 623,
"cds_start": 1724,
"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": "G",
"aa_alt": "V",
"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.1721G>T",
"hgvs_p": "p.Gly574Val",
"transcript": "ENST00000857288.1",
"protein_id": "ENSP00000527347.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 622,
"cds_start": 1721,
"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": "G",
"aa_alt": "V",
"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.1721G>T",
"hgvs_p": "p.Gly574Val",
"transcript": "ENST00000857299.1",
"protein_id": "ENSP00000527358.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 622,
"cds_start": 1721,
"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": "G",
"aa_alt": "V",
"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.1652G>T",
"hgvs_p": "p.Gly551Val",
"transcript": "ENST00000857285.1",
"protein_id": "ENSP00000527344.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 599,
"cds_start": 1652,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857285.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.1646G>T",
"hgvs_p": "p.Gly549Val",
"transcript": "ENST00000857293.1",
"protein_id": "ENSP00000527352.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 597,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857293.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.1562G>T",
"hgvs_p": "p.Gly521Val",
"transcript": "ENST00000857296.1",
"protein_id": "ENSP00000527355.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 569,
"cds_start": 1562,
"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": "G",
"aa_alt": "V",
"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.1469G>T",
"hgvs_p": "p.Gly490Val",
"transcript": "ENST00000857294.1",
"protein_id": "ENSP00000527353.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 538,
"cds_start": 1469,
"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": "G",
"aa_alt": "V",
"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.1418G>T",
"hgvs_p": "p.Gly473Val",
"transcript": "ENST00000857287.1",
"protein_id": "ENSP00000527346.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 521,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857287.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.1409G>T",
"hgvs_p": "p.Gly470Val",
"transcript": "NM_001386012.1",
"protein_id": "NP_001372941.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 518,
"cds_start": 1409,
"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": "G",
"aa_alt": "V",
"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.1409G>T",
"hgvs_p": "p.Gly470Val",
"transcript": "ENST00000857289.1",
"protein_id": "ENSP00000527348.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 518,
"cds_start": 1409,
"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": "G",
"aa_alt": "V",
"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.1256G>T",
"hgvs_p": "p.Gly419Val",
"transcript": "ENST00000857292.1",
"protein_id": "ENSP00000527351.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 467,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000695703.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "ENSG00000289691",
"gene_hgnc_id": null,
"hgvs_c": "n.422+1550C>A",
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"transcript": "ENST00000695704.1",
"protein_id": null,
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"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": "ENST00000695704.1"
},
{
"aa_ref": null,
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"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+1550C>A",
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"transcript": "ENST00000695705.1",
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"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": "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+1822C>A",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000695706.1"
}
],
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"dbsnp": "rs768614097",
"frequency_reference_population": 0.000006156456,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615646,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07455214858055115,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.0889,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.507,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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.1802G>T",
"hgvs_p": "p.Gly601Val"
},
{
"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.-750+1550C>A",
"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+1550C>A",
"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
}