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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: 22-50444083-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50444083&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50444083,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000612753.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2797A>G",
"hgvs_p": "p.Met933Val",
"transcript": "NM_001242898.2",
"protein_id": "NP_001229827.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 959,
"cds_start": 2797,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 3168,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": "ENST00000612753.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2797A>G",
"hgvs_p": "p.Met933Val",
"transcript": "ENST00000612753.5",
"protein_id": "ENSP00000478417.1",
"transcript_support_level": 2,
"aa_start": 933,
"aa_end": null,
"aa_length": 959,
"cds_start": 2797,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 3168,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": "NM_001242898.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2818A>G",
"hgvs_p": "p.Met940Val",
"transcript": "ENST00000216061.9",
"protein_id": "ENSP00000216061.5",
"transcript_support_level": 1,
"aa_start": 940,
"aa_end": null,
"aa_length": 966,
"cds_start": 2818,
"cds_end": null,
"cds_length": 2901,
"cdna_start": 3188,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2719A>G",
"hgvs_p": "p.Met907Val",
"transcript": "ENST00000395741.7",
"protein_id": "ENSP00000379090.3",
"transcript_support_level": 1,
"aa_start": 907,
"aa_end": null,
"aa_length": 933,
"cds_start": 2719,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 3094,
"cdna_end": null,
"cdna_length": 3304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2716A>G",
"hgvs_p": "p.Met906Val",
"transcript": "ENST00000395744.7",
"protein_id": "ENSP00000379093.3",
"transcript_support_level": 1,
"aa_start": 906,
"aa_end": null,
"aa_length": 932,
"cds_start": 2716,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 3083,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2818A>G",
"hgvs_p": "p.Met940Val",
"transcript": "NM_001365836.1",
"protein_id": "NP_001352765.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 966,
"cds_start": 2818,
"cds_end": null,
"cds_length": 2901,
"cdna_start": 3464,
"cdna_end": null,
"cdna_length": 4390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2800A>G",
"hgvs_p": "p.Met934Val",
"transcript": "NM_001351641.2",
"protein_id": "NP_001338570.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 960,
"cds_start": 2800,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 3171,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2800A>G",
"hgvs_p": "p.Met934Val",
"transcript": "NM_001351642.2",
"protein_id": "NP_001338571.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 960,
"cds_start": 2800,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 3171,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2797A>G",
"hgvs_p": "p.Met933Val",
"transcript": "NM_001351643.2",
"protein_id": "NP_001338572.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 959,
"cds_start": 2797,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 3294,
"cdna_end": null,
"cdna_length": 4220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2719A>G",
"hgvs_p": "p.Met907Val",
"transcript": "NM_001242899.2",
"protein_id": "NP_001229828.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 933,
"cds_start": 2719,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 3090,
"cdna_end": null,
"cdna_length": 4016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2719A>G",
"hgvs_p": "p.Met907Val",
"transcript": "NM_001351644.2",
"protein_id": "NP_001338573.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 933,
"cds_start": 2719,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 3090,
"cdna_end": null,
"cdna_length": 4016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2716A>G",
"hgvs_p": "p.Met906Val",
"transcript": "NM_001351645.2",
"protein_id": "NP_001338574.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 932,
"cds_start": 2716,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 3213,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2716A>G",
"hgvs_p": "p.Met906Val",
"transcript": "NM_014678.5",
"protein_id": "NP_055493.2",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 932,
"cds_start": 2716,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 4013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2713A>G",
"hgvs_p": "p.Met905Val",
"transcript": "NM_001351646.2",
"protein_id": "NP_001338575.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 931,
"cds_start": 2713,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 3084,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2719A>G",
"hgvs_p": "p.Met907Val",
"transcript": "NM_001242900.2",
"protein_id": "NP_001229829.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 927,
"cds_start": 2719,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 3090,
"cdna_end": null,
"cdna_length": 4012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2719A>G",
"hgvs_p": "p.Met907Val",
"transcript": "ENST00000359139.7",
"protein_id": "ENSP00000352051.3",
"transcript_support_level": 2,
"aa_start": 907,
"aa_end": null,
"aa_length": 927,
"cds_start": 2719,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 3113,
"cdna_end": null,
"cdna_length": 4035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Met771Val",
"transcript": "NM_001351647.2",
"protein_id": "NP_001338576.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 797,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 3122,
"cdna_end": null,
"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2230A>G",
"hgvs_p": "p.Met744Val",
"transcript": "NM_001351648.2",
"protein_id": "NP_001338577.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 770,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 3041,
"cdna_end": null,
"cdna_length": 3967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.1972A>G",
"hgvs_p": "p.Met658Val",
"transcript": "ENST00000401672.7",
"protein_id": "ENSP00000384532.3",
"transcript_support_level": 2,
"aa_start": 658,
"aa_end": null,
"aa_length": 684,
"cds_start": 1972,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1973,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.1603A>G",
"hgvs_p": "p.Met535Val",
"transcript": "ENST00000427222.2",
"protein_id": "ENSP00000391595.2",
"transcript_support_level": 5,
"aa_start": 535,
"aa_end": null,
"aa_length": 561,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1604,
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"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2986A>G",
"hgvs_p": "p.Met996Val",
"transcript": "XM_047441645.1",
"protein_id": "XP_047297601.1",
"transcript_support_level": null,
"aa_start": 996,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2986,
"cds_end": null,
"cds_length": 3069,
"cdna_start": 5006,
"cdna_end": null,
"cdna_length": 5932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2890A>G",
"hgvs_p": "p.Met964Val",
"transcript": "XM_011530732.3",
"protein_id": "XP_011529034.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 990,
"cds_start": 2890,
"cds_end": null,
"cds_length": 2973,
"cdna_start": 3371,
"cdna_end": null,
"cdna_length": 4297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.6433T>C",
"hgvs_p": null,
"transcript": "ENST00000685180.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.*3059T>C",
"hgvs_p": null,
"transcript": "ENST00000689129.1",
"protein_id": "ENSP00000510414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1868,
"cds_start": -4,
"cds_end": null,
"cds_length": 5607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.*245T>C",
"hgvs_p": null,
"transcript": "ENST00000691959.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.*551T>C",
"hgvs_p": null,
"transcript": "ENST00000692946.1",
"protein_id": "ENSP00000510472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"dbsnp": "rs768944848",
"frequency_reference_population": 6.846961e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84696e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03929665684700012,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": 0.0591,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.407,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000612753.5",
"gene_symbol": "PPP6R2",
"hgnc_id": 19253,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2797A>G",
"hgvs_p": "p.Met933Val"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000685180.1",
"gene_symbol": "SBF1",
"hgnc_id": 10542,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.6433T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}