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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: 14-58453450-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=58453450&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 58453450,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001244189.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Gly410Gly",
"transcript": "NM_001329943.3",
"protein_id": "NP_001316872.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 1548,
"cds_start": 1230,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000652326.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329943.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Gly410Gly",
"transcript": "ENST00000652326.2",
"protein_id": "ENSP00000498929.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 1548,
"cds_start": 1230,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001329943.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652326.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1185A>G",
"hgvs_p": "p.Gly395Gly",
"transcript": "ENST00000619416.4",
"protein_id": "ENSP00000478083.1",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 1533,
"cds_start": 1185,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619416.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1098A>G",
"hgvs_p": "p.Gly366Gly",
"transcript": "ENST00000423743.7",
"protein_id": "ENSP00000399427.3",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 1504,
"cds_start": 1098,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423743.7"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Gly410Gly",
"transcript": "ENST00000261244.9",
"protein_id": "ENSP00000261244.5",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 1472,
"cds_start": 1230,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261244.9"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1389A>G",
"hgvs_p": "p.Gly463Gly",
"transcript": "NM_001244189.2",
"protein_id": "NP_001231118.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1644,
"cds_start": 1389,
"cds_end": null,
"cds_length": 4935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244189.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1389A>G",
"hgvs_p": "p.Gly463Gly",
"transcript": "ENST00000354386.10",
"protein_id": "ENSP00000346359.6",
"transcript_support_level": 2,
"aa_start": 463,
"aa_end": null,
"aa_length": 1644,
"cds_start": 1389,
"cds_end": null,
"cds_length": 4935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354386.10"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Gly410Gly",
"transcript": "NM_001329944.2",
"protein_id": "NP_001316873.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 1591,
"cds_start": 1230,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329944.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1185A>G",
"hgvs_p": "p.Gly395Gly",
"transcript": "NM_001244190.2",
"protein_id": "NP_001231119.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1533,
"cds_start": 1185,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244190.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Gly410Gly",
"transcript": "NM_001329946.2",
"protein_id": "NP_001316875.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 1526,
"cds_start": 1230,
"cds_end": null,
"cds_length": 4581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329946.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Gly410Gly",
"transcript": "ENST00000650904.1",
"protein_id": "ENSP00000498606.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 1521,
"cds_start": 1230,
"cds_end": null,
"cds_length": 4566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650904.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1098A>G",
"hgvs_p": "p.Gly366Gly",
"transcript": "NM_001244192.2",
"protein_id": "NP_001231121.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1504,
"cds_start": 1098,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244192.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Gly410Gly",
"transcript": "NM_001329947.2",
"protein_id": "NP_001316876.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 1504,
"cds_start": 1230,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329947.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Gly410Gly",
"transcript": "NM_014749.5",
"protein_id": "NP_055564.3",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 1472,
"cds_start": 1230,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014749.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.975A>G",
"hgvs_p": "p.Gly325Gly",
"transcript": "NM_001244191.2",
"protein_id": "NP_001231120.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 1463,
"cds_start": 975,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244191.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.975A>G",
"hgvs_p": "p.Gly325Gly",
"transcript": "NM_001364701.2",
"protein_id": "NP_001351630.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 1463,
"cds_start": 975,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364701.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.975A>G",
"hgvs_p": "p.Gly325Gly",
"transcript": "ENST00000619722.5",
"protein_id": "ENSP00000481936.1",
"transcript_support_level": 2,
"aa_start": 325,
"aa_end": null,
"aa_length": 1463,
"cds_start": 975,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619722.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.975A>G",
"hgvs_p": "p.Gly325Gly",
"transcript": "NM_001329945.2",
"protein_id": "NP_001316874.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 1441,
"cds_start": 975,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329945.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.975A>G",
"hgvs_p": "p.Gly325Gly",
"transcript": "NM_001364700.1",
"protein_id": "NP_001351629.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 1401,
"cds_start": 975,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364700.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.810A>G",
"hgvs_p": "p.Gly270Gly",
"transcript": "NM_001244193.2",
"protein_id": "NP_001231122.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 1347,
"cds_start": 810,
"cds_end": null,
"cds_length": 4044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244193.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1353A>G",
"hgvs_p": "p.Gly451Gly",
"transcript": "XM_024449779.2",
"protein_id": "XP_024305547.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 1632,
"cds_start": 1353,
"cds_end": null,
"cds_length": 4899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449779.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Gly410Gly",
"transcript": "XM_024449780.2",
"protein_id": "XP_024305548.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 1599,
"cds_start": 1230,
"cds_end": null,
"cds_length": 4800,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000652120.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
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"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "n.*796A>G",
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"transcript": "ENST00000652732.1",
"protein_id": "ENSP00000498799.1",
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"aa_start": null,
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652732.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "n.371A>G",
"hgvs_p": null,
"transcript": "ENST00000676447.1",
"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": "retained_intron",
"feature": "ENST00000676447.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "n.*796A>G",
"hgvs_p": null,
"transcript": "ENST00000652732.1",
"protein_id": "ENSP00000498799.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000652732.1"
}
],
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"dbsnp": "rs10135645",
"frequency_reference_population": 0.0018010347,
"hom_count_reference_population": 58,
"allele_count_reference_population": 2737,
"gnomad_exomes_af": 0.000923675,
"gnomad_genomes_af": 0.00967712,
"gnomad_exomes_ac": 1263,
"gnomad_genomes_ac": 1474,
"gnomad_exomes_homalt": 27,
"gnomad_genomes_homalt": 31,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7400000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.614,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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_001244189.2",
"gene_symbol": "KIAA0586",
"hgnc_id": 19960,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1389A>G",
"hgvs_p": "p.Gly463Gly"
}
],
"clinvar_disease": "Joubert syndrome 23,Short-rib thoracic dysplasia 14 with polydactyly,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Joubert syndrome 23;Short-rib thoracic dysplasia 14 with polydactyly|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}