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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: 5-64788968-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=64788968&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 64788968,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000381070.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*",
"transcript": "NM_005869.4",
"protein_id": "NP_005860.2",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 472,
"cds_start": 617,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": "ENST00000381070.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*",
"transcript": "ENST00000381070.8",
"protein_id": "ENSP00000370460.2",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 472,
"cds_start": 617,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": "NM_005869.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*",
"transcript": "ENST00000508024.2",
"protein_id": "ENSP00000426802.1",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 381,
"cds_start": 617,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 3867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.518C>A",
"hgvs_p": "p.Ser173*",
"transcript": "ENST00000693660.1",
"protein_id": "ENSP00000509052.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 439,
"cds_start": 518,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*",
"transcript": "ENST00000688318.1",
"protein_id": "ENSP00000508653.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 426,
"cds_start": 617,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 1574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*",
"transcript": "ENST00000687314.1",
"protein_id": "ENSP00000510578.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 418,
"cds_start": 617,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 1968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*",
"transcript": "ENST00000693303.1",
"protein_id": "ENSP00000508557.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 392,
"cds_start": 617,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*",
"transcript": "NM_001297644.1",
"protein_id": "NP_001284573.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 391,
"cds_start": 617,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*",
"transcript": "ENST00000691921.1",
"protein_id": "ENSP00000509657.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 391,
"cds_start": 617,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*",
"transcript": "NM_001297645.2",
"protein_id": "NP_001284574.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 381,
"cds_start": 617,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 2122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Ser106*",
"transcript": "ENST00000607786.2",
"protein_id": "ENSP00000509647.1",
"transcript_support_level": 6,
"aa_start": 106,
"aa_end": null,
"aa_length": 372,
"cds_start": 317,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 4124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*",
"transcript": "ENST00000689574.1",
"protein_id": "ENSP00000510176.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 359,
"cds_start": 617,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.518C>A",
"hgvs_p": "p.Ser173*",
"transcript": "ENST00000692005.1",
"protein_id": "ENSP00000509199.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 358,
"cds_start": 518,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*",
"transcript": "NM_001364478.1",
"protein_id": "NP_001351407.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 354,
"cds_start": 617,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 1753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*",
"transcript": "ENST00000692763.1",
"protein_id": "ENSP00000510726.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 354,
"cds_start": 617,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 7794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*",
"transcript": "ENST00000692660.1",
"protein_id": "ENSP00000510173.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 348,
"cds_start": 617,
"cds_end": null,
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"cdna_start": 834,
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"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*",
"transcript": "NM_001318000.2",
"protein_id": "NP_001304929.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 333,
"cds_start": 617,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 2927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*",
"transcript": "ENST00000685023.1",
"protein_id": "ENSP00000508985.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 333,
"cds_start": 617,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 10941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*",
"transcript": "ENST00000688896.1",
"protein_id": "ENSP00000510604.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 328,
"cds_start": 617,
"cds_end": null,
"cds_length": 987,
"cdna_start": 834,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*",
"transcript": "ENST00000693640.1",
"protein_id": "ENSP00000509061.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 325,
"cds_start": 617,
"cds_end": null,
"cds_length": 978,
"cdna_start": 840,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*",
"transcript": "ENST00000688107.1",
"protein_id": "ENSP00000510268.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 315,
"cds_start": 617,
"cds_end": null,
"cds_length": 948,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ser41*",
"transcript": "ENST00000506168.2",
"protein_id": "ENSP00000510592.1",
"transcript_support_level": 2,
"aa_start": 41,
"aa_end": null,
"aa_length": 148,
"cds_start": 122,
"cds_end": null,
"cds_length": 447,
"cdna_start": 122,
"cdna_end": null,
"cdna_length": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"hgvs_c": "n.934C>A",
"hgvs_p": null,
"transcript": "ENST00000485990.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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},
{
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},
{
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"strand": true,
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"exon_count": 12,
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"transcript": "ENST00000689534.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 12,
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"gene_symbol": "CWC27",
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"hgvs_c": "n.818C>A",
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"transcript": "ENST00000693121.1",
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"cds_start": -4,
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"cdna_length": 4645,
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"feature": null
}
],
"gene_symbol": "CWC27",
"gene_hgnc_id": 10664,
"dbsnp": "rs781702398",
"frequency_reference_population": 0.0000014065073,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000140651,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6499999761581421,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.073,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000381070.8",
"gene_symbol": "CWC27",
"hgnc_id": 10664,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Ser206*"
}
],
"clinvar_disease": "Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}