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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: 3-50320296-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50320296&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50320296,
"ref": "G",
"alt": "C",
"effect": "stop_gained",
"transcript": "NM_003773.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "NM_003773.5",
"protein_id": "NP_003764.3",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 194,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357750.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003773.5"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "ENST00000357750.9",
"protein_id": "ENSP00000350387.4",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 194,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003773.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357750.9"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "ENST00000395139.7",
"protein_id": "ENSP00000378571.3",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 194,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395139.7"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "ENST00000447092.5",
"protein_id": "ENSP00000401853.1",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 194,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447092.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "n.329C>G",
"hgvs_p": null,
"transcript": "ENST00000481597.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481597.5"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "NM_033158.5",
"protein_id": "NP_149348.2",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 194,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033158.5"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "ENST00000442581.1",
"protein_id": "ENSP00000406657.1",
"transcript_support_level": 2,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 194,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442581.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "ENST00000891560.1",
"protein_id": "ENSP00000561619.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 194,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891560.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "ENST00000891561.1",
"protein_id": "ENSP00000561620.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 194,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891561.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "ENST00000891562.1",
"protein_id": "ENSP00000561621.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 194,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891562.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "ENST00000891563.1",
"protein_id": "ENSP00000561622.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 194,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891563.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "ENST00000891564.1",
"protein_id": "ENSP00000561623.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 194,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891564.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "ENST00000945864.1",
"protein_id": "ENSP00000615923.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 194,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945864.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "ENST00000945865.1",
"protein_id": "ENSP00000615924.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 194,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945865.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "ENST00000945867.1",
"protein_id": "ENSP00000615926.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 194,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945867.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "ENST00000945863.1",
"protein_id": "ENSP00000615922.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 472,
"cds_start": 194,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945863.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "ENST00000945866.1",
"protein_id": "ENSP00000615925.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 443,
"cds_start": 194,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945866.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "ENST00000458018.1",
"protein_id": "ENSP00000399677.1",
"transcript_support_level": 3,
"aa_start": 65,
"aa_end": null,
"aa_length": 120,
"cds_start": 194,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458018.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "ENST00000424190.1",
"protein_id": "ENSP00000398714.1",
"transcript_support_level": 4,
"aa_start": 65,
"aa_end": null,
"aa_length": 116,
"cds_start": 194,
"cds_end": null,
"cds_length": 353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424190.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "ENST00000426286.1",
"protein_id": "ENSP00000409642.1",
"transcript_support_level": 3,
"aa_start": 65,
"aa_end": null,
"aa_length": 80,
"cds_start": 194,
"cds_end": null,
"cds_length": 244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426286.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "ENST00000428028.1",
"protein_id": "ENSP00000414656.1",
"transcript_support_level": 3,
"aa_start": 65,
"aa_end": null,
"aa_length": 75,
"cds_start": 194,
"cds_end": null,
"cds_length": 230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428028.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*",
"transcript": "XM_005265524.3",
"protein_id": "XP_005265581.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 194,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265524.3"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
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"exon_count": 4,
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"gene_symbol": "HYAL2",
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"hgvs_c": "c.194C>G",
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"transcript": "XM_005265525.3",
"protein_id": "XP_005265582.1",
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"aa_start": 65,
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"cds_length": 1422,
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"biotype": "protein_coding",
"feature": "XM_005265525.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "TUSC2",
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"hgvs_c": "n.565C>G",
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"transcript": "ENST00000462137.5",
"protein_id": null,
"transcript_support_level": 3,
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"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": "ENST00000462137.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"hgvs_c": "c.*51C>G",
"hgvs_p": null,
"transcript": "ENST00000415028.1",
"protein_id": "ENSP00000405855.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 46,
"cds_start": null,
"cds_end": null,
"cds_length": 143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415028.1"
}
],
"gene_symbol": "HYAL2",
"gene_hgnc_id": 5321,
"dbsnp": "rs1553716439",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3100000023841858,
"computational_prediction_selected": "Pathogenic",
"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": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.92,
"phylop100way_prediction": "Pathogenic",
"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": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_003773.5",
"gene_symbol": "HYAL2",
"hgnc_id": 5321,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ser65*"
},
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000462137.5",
"gene_symbol": "TUSC2",
"hgnc_id": 17034,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.565C>G",
"hgvs_p": null
}
],
"clinvar_disease": "HYAL2 deficiency,Muggenthaler-Chowdhury-Chioza syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "HYAL2 deficiency|Muggenthaler-Chowdhury-Chioza syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}