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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: 3-171677678-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=171677678&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 171677678,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_002662.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1884T>C",
"hgvs_p": "p.Arg628Arg",
"transcript": "NM_002662.5",
"protein_id": "NP_002653.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1884,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000351298.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002662.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1884T>C",
"hgvs_p": "p.Arg628Arg",
"transcript": "ENST00000351298.9",
"protein_id": "ENSP00000342793.4",
"transcript_support_level": 1,
"aa_start": 628,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1884,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002662.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351298.9"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1770T>C",
"hgvs_p": "p.Arg590Arg",
"transcript": "ENST00000356327.9",
"protein_id": "ENSP00000348681.5",
"transcript_support_level": 1,
"aa_start": 590,
"aa_end": null,
"aa_length": 1036,
"cds_start": 1770,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356327.9"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1884T>C",
"hgvs_p": "p.Arg628Arg",
"transcript": "ENST00000959555.1",
"protein_id": "ENSP00000629614.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1884,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959555.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1800T>C",
"hgvs_p": "p.Arg600Arg",
"transcript": "ENST00000861048.1",
"protein_id": "ENSP00000531107.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 1046,
"cds_start": 1800,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861048.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1770T>C",
"hgvs_p": "p.Arg590Arg",
"transcript": "NM_001130081.3",
"protein_id": "NP_001123553.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 1036,
"cds_start": 1770,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130081.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1770T>C",
"hgvs_p": "p.Arg590Arg",
"transcript": "ENST00000861047.1",
"protein_id": "ENSP00000531106.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 1036,
"cds_start": 1770,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861047.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1770T>C",
"hgvs_p": "p.Arg590Arg",
"transcript": "ENST00000861051.1",
"protein_id": "ENSP00000531110.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 1036,
"cds_start": 1770,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861051.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1770T>C",
"hgvs_p": "p.Arg590Arg",
"transcript": "ENST00000861052.1",
"protein_id": "ENSP00000531111.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 1036,
"cds_start": 1770,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861052.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1770T>C",
"hgvs_p": "p.Arg590Arg",
"transcript": "ENST00000861053.1",
"protein_id": "ENSP00000531112.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 1036,
"cds_start": 1770,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861053.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1770T>C",
"hgvs_p": "p.Arg590Arg",
"transcript": "ENST00000959556.1",
"protein_id": "ENSP00000629615.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 1036,
"cds_start": 1770,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959556.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1770T>C",
"hgvs_p": "p.Arg590Arg",
"transcript": "ENST00000861049.1",
"protein_id": "ENSP00000531108.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 991,
"cds_start": 1770,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861049.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1620T>C",
"hgvs_p": "p.Arg540Arg",
"transcript": "ENST00000861050.1",
"protein_id": "ENSP00000531109.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 986,
"cds_start": 1620,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861050.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1566T>C",
"hgvs_p": "p.Arg522Arg",
"transcript": "ENST00000959554.1",
"protein_id": "ENSP00000629613.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 968,
"cds_start": 1566,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959554.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1884T>C",
"hgvs_p": "p.Arg628Arg",
"transcript": "XM_005247533.3",
"protein_id": "XP_005247590.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1884,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247533.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1884T>C",
"hgvs_p": "p.Arg628Arg",
"transcript": "XM_047448316.1",
"protein_id": "XP_047304272.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1884,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448316.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1770T>C",
"hgvs_p": "p.Arg590Arg",
"transcript": "XM_005247534.3",
"protein_id": "XP_005247591.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 1036,
"cds_start": 1770,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247534.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1884T>C",
"hgvs_p": "p.Arg628Arg",
"transcript": "XM_011512897.2",
"protein_id": "XP_011511199.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 971,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512897.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1884T>C",
"hgvs_p": "p.Arg628Arg",
"transcript": "XM_011512898.2",
"protein_id": "XP_011511200.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 969,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512898.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.1770T>C",
"hgvs_p": "p.Arg590Arg",
"transcript": "XM_047448317.1",
"protein_id": "XP_047304273.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 933,
"cds_start": 1770,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448317.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.780T>C",
"hgvs_p": "p.Arg260Arg",
"transcript": "XM_047448318.1",
"protein_id": "XP_047304274.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 706,
"cds_start": 780,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448318.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.633T>C",
"hgvs_p": "p.Arg211Arg",
"transcript": "XM_011512899.3",
"protein_id": "XP_011511201.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 657,
"cds_start": 633,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512899.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
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"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "c.633T>C",
"hgvs_p": "p.Arg211Arg",
"transcript": "XM_017006624.2",
"protein_id": "XP_016862113.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 657,
"cds_start": 633,
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"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006624.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "n.176T>C",
"hgvs_p": null,
"transcript": "ENST00000471075.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000471075.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"hgvs_c": "n.2047T>C",
"hgvs_p": null,
"transcript": "XR_007095693.1",
"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": "XR_007095693.1"
}
],
"gene_symbol": "PLD1",
"gene_hgnc_id": 9067,
"dbsnp": "rs2124147",
"frequency_reference_population": 0.45137227,
"hom_count_reference_population": 168178,
"allele_count_reference_population": 728012,
"gnomad_exomes_af": 0.4455,
"gnomad_genomes_af": 0.50781,
"gnomad_exomes_ac": 650829,
"gnomad_genomes_ac": 77183,
"gnomad_exomes_homalt": 147511,
"gnomad_genomes_homalt": 20667,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012000000104308128,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.012,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.705,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002662.5",
"gene_symbol": "PLD1",
"hgnc_id": 9067,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1884T>C",
"hgvs_p": "p.Arg628Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}