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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: 2-232847516-CACA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=232847516&ref=CACA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 232847516,
"ref": "CACA",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001103147.2",
"consequences": [
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3630_3632delACA",
"hgvs_p": "p.Gln1211del",
"transcript": "NM_001103146.3",
"protein_id": "NP_001096616.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3801,
"cdna_end": null,
"cdna_length": 7816,
"mane_select": "ENST00000373563.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001103146.3"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3630_3632delACA",
"hgvs_p": "p.Gln1211del",
"transcript": "ENST00000373563.9",
"protein_id": "ENSP00000362664.5",
"transcript_support_level": 1,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3801,
"cdna_end": null,
"cdna_length": 7816,
"mane_select": "NM_001103146.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373563.9"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3693_3695delACA",
"hgvs_p": "p.Gln1232del",
"transcript": "ENST00000409451.7",
"protein_id": "ENSP00000387170.3",
"transcript_support_level": 1,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3693,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3919,
"cdna_end": null,
"cdna_length": 5937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409451.7"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3630_3632delACA",
"hgvs_p": "p.Gln1211del",
"transcript": "ENST00000409547.5",
"protein_id": "ENSP00000386537.1",
"transcript_support_level": 1,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3941,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409547.5"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3612_3614delACA",
"hgvs_p": "p.Gln1205del",
"transcript": "ENST00000409196.7",
"protein_id": "ENSP00000387070.3",
"transcript_support_level": 1,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1293,
"cds_start": 3612,
"cds_end": null,
"cds_length": 3882,
"cdna_start": 3710,
"cdna_end": null,
"cdna_length": 5747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409196.7"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3696_3698delACA",
"hgvs_p": "p.Gln1233del",
"transcript": "ENST00000409480.5",
"protein_id": "ENSP00000386765.1",
"transcript_support_level": 5,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3696,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 3958,
"cdna_end": null,
"cdna_length": 5976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409480.5"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3696_3698delACA",
"hgvs_p": "p.Gln1233del",
"transcript": "ENST00000629305.2",
"protein_id": "ENSP00000487548.1",
"transcript_support_level": 5,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3696,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 3893,
"cdna_end": null,
"cdna_length": 7878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629305.2"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3693_3695delACA",
"hgvs_p": "p.Gln1232del",
"transcript": "NM_001103147.2",
"protein_id": "NP_001096617.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3693,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3934,
"cdna_end": null,
"cdna_length": 7921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001103147.2"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3630_3632delACA",
"hgvs_p": "p.Gln1211del",
"transcript": "NM_015575.4",
"protein_id": "NP_056390.2",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3941,
"cdna_end": null,
"cdna_length": 7928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015575.4"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3630_3632delACA",
"hgvs_p": "p.Gln1211del",
"transcript": "ENST00000869690.1",
"protein_id": "ENSP00000539749.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3807,
"cdna_end": null,
"cdna_length": 6429,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869690.1"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3630_3632delACA",
"hgvs_p": "p.Gln1211del",
"transcript": "ENST00000869691.1",
"protein_id": "ENSP00000539750.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 4020,
"cdna_end": null,
"cdna_length": 6412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869691.1"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3630_3632delACA",
"hgvs_p": "p.Gln1211del",
"transcript": "ENST00000869692.1",
"protein_id": "ENSP00000539751.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3897,
"cdna_end": null,
"cdna_length": 5919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869692.1"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3630_3632delACA",
"hgvs_p": "p.Gln1211del",
"transcript": "ENST00000869693.1",
"protein_id": "ENSP00000539752.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3913,
"cdna_end": null,
"cdna_length": 5910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869693.1"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3630_3632delACA",
"hgvs_p": "p.Gln1211del",
"transcript": "ENST00000869695.1",
"protein_id": "ENSP00000539754.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 4033,
"cdna_end": null,
"cdna_length": 5275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869695.1"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3630_3632delACA",
"hgvs_p": "p.Gln1211del",
"transcript": "ENST00000869696.1",
"protein_id": "ENSP00000539755.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 4102,
"cdna_end": null,
"cdna_length": 5355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869696.1"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3630_3632delACA",
"hgvs_p": "p.Gln1211del",
"transcript": "ENST00000869697.1",
"protein_id": "ENSP00000539756.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 4018,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869697.1"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3630_3632delACA",
"hgvs_p": "p.Gln1211del",
"transcript": "ENST00000933239.1",
"protein_id": "ENSP00000603298.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3929,
"cdna_end": null,
"cdna_length": 5966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933239.1"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3630_3632delACA",
"hgvs_p": "p.Gln1211del",
"transcript": "ENST00000933241.1",
"protein_id": "ENSP00000603300.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3630,
"cds_end": null,
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"cdna_start": 3990,
"cdna_end": null,
"cdna_length": 6027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933241.1"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3630_3632delACA",
"hgvs_p": "p.Gln1211del",
"transcript": "ENST00000933242.1",
"protein_id": "ENSP00000603301.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 4033,
"cdna_end": null,
"cdna_length": 6068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933242.1"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3630_3632delACA",
"hgvs_p": "p.Gln1211del",
"transcript": "ENST00000933246.1",
"protein_id": "ENSP00000603305.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 4236,
"cdna_end": null,
"cdna_length": 6273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933246.1"
},
{
"aa_ref": "PQ",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3630_3632delACA",
"hgvs_p": "p.Gln1211del",
"transcript": "ENST00000933247.1",
"protein_id": "ENSP00000603306.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 4016,
"cdna_end": null,
"cdna_length": 5909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933247.1"
},
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.2886_2888delACA",
"hgvs_p": "p.Gln963del",
"transcript": "ENST00000678885.1",
"protein_id": "ENSP00000503563.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2886,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 3134,
"cdna_end": null,
"cdna_length": 7119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678885.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "n.2665_2667delACA",
"hgvs_p": null,
"transcript": "ENST00000474312.5",
"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": 4687,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474312.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "n.3588_3590delACA",
"hgvs_p": null,
"transcript": "NR_103492.1",
"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": 7575,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_103492.1"
}
],
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"dbsnp": "rs10555297",
"frequency_reference_population": 0.57417923,
"hom_count_reference_population": 244405,
"allele_count_reference_population": 876542,
"gnomad_exomes_af": 0.57027,
"gnomad_genomes_af": 0.612085,
"gnomad_exomes_ac": 789195,
"gnomad_genomes_ac": 87347,
"gnomad_exomes_homalt": 218858,
"gnomad_genomes_homalt": 25547,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.443,
"phylop100way_prediction": "Uncertain_significance",
"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": "BP3,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001103147.2",
"gene_symbol": "GIGYF2",
"hgnc_id": 11960,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.3693_3695delACA",
"hgvs_p": "p.Gln1232del"
}
],
"clinvar_disease": " autosomal dominant, susceptibility to,Parkinson disease 11,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Parkinson disease 11, autosomal dominant, susceptibility to|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}