← Back to variant description
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: 19-18161376-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18161376&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18161376,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_005027.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Val232Val",
"transcript": "NM_005027.4",
"protein_id": "NP_005018.2",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 728,
"cds_start": 696,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000222254.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005027.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Val232Val",
"transcript": "ENST00000222254.13",
"protein_id": "ENSP00000222254.6",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 728,
"cds_start": 696,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005027.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222254.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268173",
"gene_hgnc_id": null,
"hgvs_c": "n.696G>A",
"hgvs_p": null,
"transcript": "ENST00000593731.1",
"protein_id": "ENSP00000471914.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000593731.1"
},
{
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "n.598+191G>A",
"hgvs_p": null,
"transcript": "ENST00000617130.6",
"protein_id": "ENSP00000477864.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000617130.6"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Val232Val",
"transcript": "ENST00000925098.1",
"protein_id": "ENSP00000595157.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 738,
"cds_start": 696,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925098.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Val232Val",
"transcript": "ENST00000874456.1",
"protein_id": "ENSP00000544515.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 728,
"cds_start": 696,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874456.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Val232Val",
"transcript": "ENST00000874458.1",
"protein_id": "ENSP00000544517.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 728,
"cds_start": 696,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874458.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Val232Val",
"transcript": "ENST00000965709.1",
"protein_id": "ENSP00000635768.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 728,
"cds_start": 696,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965709.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Val232Val",
"transcript": "ENST00000965710.1",
"protein_id": "ENSP00000635769.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 728,
"cds_start": 696,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965710.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Val232Val",
"transcript": "ENST00000925097.1",
"protein_id": "ENSP00000595156.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 727,
"cds_start": 696,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925097.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Val230Val",
"transcript": "ENST00000874453.1",
"protein_id": "ENSP00000544512.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 726,
"cds_start": 690,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874453.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Val232Val",
"transcript": "ENST00000925100.1",
"protein_id": "ENSP00000595159.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 726,
"cds_start": 696,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925100.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Val232Val",
"transcript": "ENST00000874457.1",
"protein_id": "ENSP00000544516.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 722,
"cds_start": 696,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874457.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Val232Val",
"transcript": "ENST00000874459.1",
"protein_id": "ENSP00000544518.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 719,
"cds_start": 696,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874459.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Val232Val",
"transcript": "ENST00000925099.1",
"protein_id": "ENSP00000595158.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 704,
"cds_start": 696,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925099.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.603G>A",
"hgvs_p": "p.Val201Val",
"transcript": "ENST00000874454.1",
"protein_id": "ENSP00000544513.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 697,
"cds_start": 603,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874454.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.564G>A",
"hgvs_p": "p.Val188Val",
"transcript": "ENST00000925096.1",
"protein_id": "ENSP00000595155.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 684,
"cds_start": 564,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925096.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Val232Val",
"transcript": "ENST00000925101.1",
"protein_id": "ENSP00000595160.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 684,
"cds_start": 696,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925101.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.513G>A",
"hgvs_p": "p.Val171Val",
"transcript": "ENST00000874455.1",
"protein_id": "ENSP00000544514.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 667,
"cds_start": 513,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874455.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "n.696G>A",
"hgvs_p": null,
"transcript": "ENST00000426902.5",
"protein_id": "ENSP00000395636.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426902.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "n.333G>A",
"hgvs_p": null,
"transcript": "ENST00000474310.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000474310.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "n.1251G>A",
"hgvs_p": null,
"transcript": "NR_073517.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_073517.2"
},
{
"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": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "n.466+407G>A",
"hgvs_p": null,
"transcript": "ENST00000617642.2",
"protein_id": "ENSP00000484714.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000617642.2"
},
{
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "n.1153+191G>A",
"hgvs_p": null,
"transcript": "NR_162071.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_162071.1"
}
],
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"dbsnp": "rs571661207",
"frequency_reference_population": 0.0001764473,
"hom_count_reference_population": 0,
"allele_count_reference_population": 222,
"gnomad_exomes_af": 0.0000776392,
"gnomad_genomes_af": 0.000903787,
"gnomad_exomes_ac": 86,
"gnomad_genomes_ac": 136,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.49000000953674316,
"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": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.275,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005027.4",
"gene_symbol": "PIK3R2",
"hgnc_id": 8980,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Val232Val"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000593731.1",
"gene_symbol": "ENSG00000268173",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.696G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1,PIK3R2-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1|PIK3R2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}