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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: 11-104892390-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=104892390&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 104892390,
"ref": "A",
"alt": "G",
"effect": "stop_lost",
"transcript": "ENST00000375726.6",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Ter125Argext*?",
"transcript": "ENST00000375726.6",
"protein_id": "ENSP00000424038.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 341,
"cds_start": 373,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 1306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Ter125Argext*?",
"transcript": "ENST00000613512.4",
"protein_id": "ENSP00000482745.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 341,
"cds_start": 373,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 1451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Ter125Argext*?",
"transcript": "ENST00000441710.5",
"protein_id": "ENSP00000423970.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 295,
"cds_start": 373,
"cds_end": null,
"cds_length": 888,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 1168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Ter125Argext*?",
"transcript": "ENST00000446862.5",
"protein_id": "ENSP00000425652.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 277,
"cds_start": 373,
"cds_end": null,
"cds_length": 834,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Ter125Argext*?",
"transcript": "ENST00000494737.5",
"protein_id": "ENSP00000421815.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 226,
"cds_start": 373,
"cds_end": null,
"cds_length": 681,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Ter125Argext*?",
"transcript": "ENST00000448103.5",
"protein_id": "ENSP00000423899.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 224,
"cds_start": 373,
"cds_end": null,
"cds_length": 675,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 1071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "c.121T>C",
"hgvs_p": "p.Ter41Argext*?",
"transcript": "ENST00000433738.5",
"protein_id": "ENSP00000427437.1",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 142,
"cds_start": 121,
"cds_end": null,
"cds_length": 429,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "c.121T>C",
"hgvs_p": "p.Ter41Argext*?",
"transcript": "ENST00000447913.5",
"protein_id": "ENSP00000426427.1",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 140,
"cds_start": 121,
"cds_end": null,
"cds_length": 423,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "n.468T>C",
"hgvs_p": null,
"transcript": "ENST00000417998.5",
"protein_id": "ENSP00000424963.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "n.468T>C",
"hgvs_p": null,
"transcript": "ENST00000458137.5",
"protein_id": "ENSP00000421408.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "c.121T>C",
"hgvs_p": "p.Ter41Argext*?",
"transcript": "ENST00000508062.1",
"protein_id": "ENSP00000426566.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 257,
"cds_start": 121,
"cds_end": null,
"cds_length": 774,
"cdna_start": 121,
"cdna_end": null,
"cdna_length": 774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Ter125Argext*?",
"transcript": "ENST00000703420.1",
"protein_id": "ENSP00000515267.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 224,
"cds_start": 373,
"cds_end": null,
"cds_length": 675,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 1009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "n.419T>C",
"hgvs_p": null,
"transcript": "NR_034061.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "n.419T>C",
"hgvs_p": null,
"transcript": "NR_034063.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 3800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "n.419T>C",
"hgvs_p": null,
"transcript": "NR_034064.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "n.419T>C",
"hgvs_p": null,
"transcript": "NR_034065.4",
"protein_id": null,
"transcript_support_level": null,
"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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"cdna_length": 3675,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "n.167T>C",
"hgvs_p": null,
"transcript": "NR_034066.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "n.419T>C",
"hgvs_p": null,
"transcript": "NR_034067.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "n.167T>C",
"hgvs_p": null,
"transcript": "NR_034068.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "n.514T>C",
"hgvs_p": null,
"transcript": "NR_034070.4",
"protein_id": null,
"transcript_support_level": null,
"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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"cdna_length": 4005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"hgvs_c": "n.514T>C",
"hgvs_p": null,
"transcript": "NR_034071.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000303891",
"gene_hgnc_id": null,
"hgvs_c": "n.371-13079A>G",
"hgvs_p": null,
"transcript": "ENST00000797905.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000303891",
"gene_hgnc_id": null,
"hgvs_c": "n.317+12288A>G",
"hgvs_p": null,
"transcript": "ENST00000797906.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"intron_variant"
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"exon_count": 4,
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"gene_symbol": "ENSG00000303891",
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"hgvs_c": "n.371-13079A>G",
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"transcript": "ENST00000797907.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1019,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "ENSG00000303891",
"gene_hgnc_id": null,
"hgvs_c": "n.523+1022A>G",
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"transcript": "ENST00000797908.1",
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"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 995,
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"biotype": null,
"feature": 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": "ENSG00000303891",
"gene_hgnc_id": null,
"hgvs_c": "n.470+1022A>G",
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"transcript": "ENST00000797909.1",
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"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 769,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "CASP12",
"gene_hgnc_id": 19004,
"dbsnp": "rs497116",
"frequency_reference_population": 0.0087243365,
"hom_count_reference_population": 776,
"allele_count_reference_population": 13388,
"gnomad_exomes_af": 0.00518121,
"gnomad_genomes_af": 0.0409372,
"gnomad_exomes_ac": 7163,
"gnomad_genomes_ac": 6225,
"gnomad_exomes_homalt": 361,
"gnomad_genomes_homalt": 415,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7099999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.812,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM4,BA1",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 8,
"pathogenic_score": 2,
"criteria": [
"PM4",
"BA1"
],
"verdict": "Likely_benign",
"transcript": "ENST00000375726.6",
"gene_symbol": "CASP12",
"hgnc_id": 19004,
"effects": [
"stop_lost"
],
"inheritance_mode": "AR",
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Ter125Argext*?"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000797905.1",
"gene_symbol": "ENSG00000303891",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.371-13079A>G",
"hgvs_p": null
}
],
"clinvar_disease": " susceptibility to,Sepsis",
"clinvar_classification": "risk factor",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Sepsis, susceptibility to",
"pathogenicity_classification_combined": "risk factor",
"custom_annotations": null
}
],
"message": null
}