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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: 18-26916982-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=26916982&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 26916982,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_031422.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST9",
"gene_hgnc_id": 19898,
"hgvs_c": "c.609A>G",
"hgvs_p": "p.Val203Val",
"transcript": "NM_031422.6",
"protein_id": "NP_113610.2",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 443,
"cds_start": 609,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 11379,
"mane_select": "ENST00000618847.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031422.6"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST9",
"gene_hgnc_id": 19898,
"hgvs_c": "c.609A>G",
"hgvs_p": "p.Val203Val",
"transcript": "ENST00000618847.5",
"protein_id": "ENSP00000480991.1",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 443,
"cds_start": 609,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 11379,
"mane_select": "NM_031422.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618847.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST9",
"gene_hgnc_id": 19898,
"hgvs_c": "c.609A>G",
"hgvs_p": "p.Val203Val",
"transcript": "ENST00000581714.5",
"protein_id": "ENSP00000462852.1",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 443,
"cds_start": 609,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581714.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.55-7778T>C",
"hgvs_p": null,
"transcript": "ENST00000578701.5",
"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": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000578701.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST9",
"gene_hgnc_id": 19898,
"hgvs_c": "c.609A>G",
"hgvs_p": "p.Val203Val",
"transcript": "NM_001398493.1",
"protein_id": "NP_001385422.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 443,
"cds_start": 609,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 11341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398493.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST9",
"gene_hgnc_id": 19898,
"hgvs_c": "c.609A>G",
"hgvs_p": "p.Val203Val",
"transcript": "ENST00000951345.1",
"protein_id": "ENSP00000621404.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 443,
"cds_start": 609,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951345.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST9",
"gene_hgnc_id": 19898,
"hgvs_c": "c.570A>G",
"hgvs_p": "p.Val190Val",
"transcript": "ENST00000932774.1",
"protein_id": "ENSP00000602833.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 430,
"cds_start": 570,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 3067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932774.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST9",
"gene_hgnc_id": 19898,
"hgvs_c": "c.438A>G",
"hgvs_p": "p.Val146Val",
"transcript": "XM_047437881.1",
"protein_id": "XP_047293837.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 386,
"cds_start": 438,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 10985,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437881.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST9",
"gene_hgnc_id": 19898,
"hgvs_c": "c.354A>G",
"hgvs_p": "p.Val118Val",
"transcript": "XM_005258362.5",
"protein_id": "XP_005258419.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 358,
"cds_start": 354,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 11091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258362.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST9",
"gene_hgnc_id": 19898,
"hgvs_c": "c.*346A>G",
"hgvs_p": null,
"transcript": "NM_001256316.2",
"protein_id": "NP_001243245.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 74,
"cds_start": null,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256316.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST9",
"gene_hgnc_id": 19898,
"hgvs_c": "c.*346A>G",
"hgvs_p": null,
"transcript": "ENST00000580774.2",
"protein_id": "ENSP00000464655.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 74,
"cds_start": null,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580774.2"
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.176-7778T>C",
"hgvs_p": null,
"transcript": "ENST00000568797.3",
"protein_id": null,
"transcript_support_level": 2,
"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": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000568797.3"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.93-7778T>C",
"hgvs_p": null,
"transcript": "ENST00000579964.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000579964.6"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.306-7778T>C",
"hgvs_p": null,
"transcript": "ENST00000582605.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 525,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000582605.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.194-7778T>C",
"hgvs_p": null,
"transcript": "ENST00000627963.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 381,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000627963.2"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.823-7778T>C",
"hgvs_p": null,
"transcript": "ENST00000628174.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 919,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000628174.2"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.124-7778T>C",
"hgvs_p": null,
"transcript": "ENST00000628325.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 467,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000628325.2"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.360+6802T>C",
"hgvs_p": null,
"transcript": "ENST00000631265.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 550,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000631265.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.180-7778T>C",
"hgvs_p": null,
"transcript": "ENST00000656601.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000656601.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.265-7778T>C",
"hgvs_p": null,
"transcript": "ENST00000658581.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000658581.1"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.90-7778T>C",
"hgvs_p": null,
"transcript": "ENST00000664268.1",
"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": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000664268.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.151-7778T>C",
"hgvs_p": null,
"transcript": "ENST00000664897.1",
"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": 3371,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000664897.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
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"hgvs_c": "n.151+51622T>C",
"hgvs_p": null,
"transcript": "ENST00000668155.1",
"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": 964,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000668155.1"
},
{
"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": 8,
"intron_rank": 1,
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"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.216-7778T>C",
"hgvs_p": null,
"transcript": "ENST00000669364.1",
"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": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000669364.1"
},
{
"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": 6,
"intron_rank": 1,
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"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.143-7778T>C",
"hgvs_p": null,
"transcript": "ENST00000670815.1",
"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": 2672,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000670815.1"
},
{
"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": 8,
"intron_rank": 2,
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"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.176-7778T>C",
"hgvs_p": null,
"transcript": "NR_026908.1",
"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": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_026908.1"
}
],
"gene_symbol": "CHST9",
"gene_hgnc_id": 19898,
"dbsnp": "rs138794390",
"frequency_reference_population": 0.003122208,
"hom_count_reference_population": 39,
"allele_count_reference_population": 5039,
"gnomad_exomes_af": 0.00315391,
"gnomad_genomes_af": 0.00281788,
"gnomad_exomes_ac": 4610,
"gnomad_genomes_ac": 429,
"gnomad_exomes_homalt": 38,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.624,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_031422.6",
"gene_symbol": "CHST9",
"hgnc_id": 19898,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.609A>G",
"hgvs_p": "p.Val203Val"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000578701.5",
"gene_symbol": "AQP4-AS1",
"hgnc_id": 26399,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.55-7778T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}