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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: 7-100404207-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100404207&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100404207,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001386010.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "NM_001386010.1",
"protein_id": "NP_001372939.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 649,
"cds_start": 1292,
"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": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "ENST00000684423.1",
"protein_id": "ENSP00000507762.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 649,
"cds_start": 1292,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1289A>G",
"hgvs_p": "p.Asn430Ser",
"transcript": "ENST00000398027.6",
"protein_id": "ENSP00000381109.2",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 648,
"cds_start": 1289,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.929A>G",
"hgvs_p": "p.Asn310Ser",
"transcript": "ENST00000490721.5",
"protein_id": "ENSP00000419187.1",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 477,
"cds_start": 929,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289690",
"gene_hgnc_id": null,
"hgvs_c": "c.-667+373T>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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "n.1169A>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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "ENST00000857286.1",
"protein_id": "ENSP00000527345.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 649,
"cds_start": 1292,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "ENST00000857298.1",
"protein_id": "ENSP00000527357.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 649,
"cds_start": 1292,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1289A>G",
"hgvs_p": "p.Asn430Ser",
"transcript": "NM_017984.6",
"protein_id": "NP_060454.3",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 648,
"cds_start": 1289,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "NM_001386016.1",
"protein_id": "NP_001372945.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 643,
"cds_start": 1292,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1265A>G",
"hgvs_p": "p.Asn422Ser",
"transcript": "ENST00000958742.1",
"protein_id": "ENSP00000628801.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 640,
"cds_start": 1265,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1214A>G",
"hgvs_p": "p.Asn405Ser",
"transcript": "ENST00000857297.1",
"protein_id": "ENSP00000527356.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 623,
"cds_start": 1214,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1211A>G",
"hgvs_p": "p.Asn404Ser",
"transcript": "ENST00000857288.1",
"protein_id": "ENSP00000527347.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 622,
"cds_start": 1211,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1211A>G",
"hgvs_p": "p.Asn404Ser",
"transcript": "ENST00000857299.1",
"protein_id": "ENSP00000527358.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 622,
"cds_start": 1211,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1295A>G",
"hgvs_p": "p.Asn432Ser",
"transcript": "ENST00000857285.1",
"protein_id": "ENSP00000527344.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 599,
"cds_start": 1295,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1289A>G",
"hgvs_p": "p.Asn430Ser",
"transcript": "ENST00000857293.1",
"protein_id": "ENSP00000527352.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 597,
"cds_start": 1289,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1295A>G",
"hgvs_p": "p.Asn432Ser",
"transcript": "NM_001386017.1",
"protein_id": "NP_001372946.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 544,
"cds_start": 1295,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.959A>G",
"hgvs_p": "p.Asn320Ser",
"transcript": "ENST00000857294.1",
"protein_id": "ENSP00000527353.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 538,
"cds_start": 959,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1295A>G",
"hgvs_p": "p.Asn432Ser",
"transcript": "NM_001386013.1",
"protein_id": "NP_001372942.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 525,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386013.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1295A>G",
"hgvs_p": "p.Asn432Ser",
"transcript": "NM_001386018.1",
"protein_id": "NP_001372947.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 525,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386018.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "NM_001258008.3",
"protein_id": "NP_001244937.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 524,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258008.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCWPW1",
"gene_hgnc_id": 23486,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "NM_001386020.1",
"protein_id": "NP_001372949.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 524,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 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": 4,
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"gene_symbol": "ENSG00000289691",
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"hgvs_c": "n.505+373T>C",
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"transcript": "ENST00000695704.1",
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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,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "ENSG00000289691",
"gene_hgnc_id": null,
"hgvs_c": "n.379+4595T>C",
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"transcript": "ENST00000695705.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000695705.1"
},
{
"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": 5,
"intron_rank": 2,
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"gene_symbol": "ENSG00000289691",
"gene_hgnc_id": null,
"hgvs_c": "n.225-4247T>C",
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"transcript": "ENST00000695706.1",
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"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": "rs368172772",
"frequency_reference_population": 0.000013141986,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.000013142,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04229441285133362,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": 0.0574,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.664,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001386010.1",
"gene_symbol": "ZCWPW1",
"hgnc_id": 23486,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000695707.1",
"gene_symbol": "ENSG00000289690",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-667+373T>C",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000695665.1",
"gene_symbol": "ENSG00000289691",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.379+4595T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}