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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: 16-47669246-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=47669246&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 47669246,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000293.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2459A>T",
"hgvs_p": "p.Glu820Val",
"transcript": "NM_000293.3",
"protein_id": "NP_000284.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1093,
"cds_start": 2459,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323584.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000293.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2459A>T",
"hgvs_p": "p.Glu820Val",
"transcript": "ENST00000323584.10",
"protein_id": "ENSP00000313504.5",
"transcript_support_level": 1,
"aa_start": 820,
"aa_end": null,
"aa_length": 1093,
"cds_start": 2459,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000293.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323584.10"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2438A>T",
"hgvs_p": "p.Glu813Val",
"transcript": "ENST00000566044.5",
"protein_id": "ENSP00000456729.1",
"transcript_support_level": 1,
"aa_start": 813,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2438,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566044.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2537A>T",
"hgvs_p": "p.Glu846Val",
"transcript": "ENST00000940565.1",
"protein_id": "ENSP00000610624.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2537,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940565.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2537A>T",
"hgvs_p": "p.Glu846Val",
"transcript": "ENST00000970599.1",
"protein_id": "ENSP00000640658.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2537,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970599.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2486A>T",
"hgvs_p": "p.Glu829Val",
"transcript": "ENST00000970601.1",
"protein_id": "ENSP00000640660.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2486,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970601.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2459A>T",
"hgvs_p": "p.Glu820Val",
"transcript": "NM_001363837.1",
"protein_id": "NP_001350766.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1093,
"cds_start": 2459,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363837.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2459A>T",
"hgvs_p": "p.Glu820Val",
"transcript": "ENST00000299167.12",
"protein_id": "ENSP00000299167.8",
"transcript_support_level": 5,
"aa_start": 820,
"aa_end": null,
"aa_length": 1093,
"cds_start": 2459,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299167.12"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2453A>T",
"hgvs_p": "p.Glu818Val",
"transcript": "ENST00000970603.1",
"protein_id": "ENSP00000640662.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2453,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970603.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2444A>T",
"hgvs_p": "p.Glu815Val",
"transcript": "ENST00000970604.1",
"protein_id": "ENSP00000640663.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2444,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970604.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2438A>T",
"hgvs_p": "p.Glu813Val",
"transcript": "NM_001031835.3",
"protein_id": "NP_001027005.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2438,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031835.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2420A>T",
"hgvs_p": "p.Glu807Val",
"transcript": "ENST00000970606.1",
"protein_id": "ENSP00000640665.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 1080,
"cds_start": 2420,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970606.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2381A>T",
"hgvs_p": "p.Glu794Val",
"transcript": "ENST00000868353.1",
"protein_id": "ENSP00000538412.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2381,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868353.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2381A>T",
"hgvs_p": "p.Glu794Val",
"transcript": "ENST00000970600.1",
"protein_id": "ENSP00000640659.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2381,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970600.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2354A>T",
"hgvs_p": "p.Glu785Val",
"transcript": "ENST00000868352.1",
"protein_id": "ENSP00000538411.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2354,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868352.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2300A>T",
"hgvs_p": "p.Glu767Val",
"transcript": "ENST00000970605.1",
"protein_id": "ENSP00000640664.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2300,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970605.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2279A>T",
"hgvs_p": "p.Glu760Val",
"transcript": "ENST00000970598.1",
"protein_id": "ENSP00000640657.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2279,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970598.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2003A>T",
"hgvs_p": "p.Glu668Val",
"transcript": "ENST00000970602.1",
"protein_id": "ENSP00000640661.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 941,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970602.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.380A>T",
"hgvs_p": "p.Glu127Val",
"transcript": "ENST00000566275.2",
"protein_id": "ENSP00000459287.1",
"transcript_support_level": 3,
"aa_start": 127,
"aa_end": null,
"aa_length": 210,
"cds_start": 380,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566275.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.2336+5512A>T",
"hgvs_p": null,
"transcript": "ENST00000868354.1",
"protein_id": "ENSP00000538413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 995,
"cds_start": null,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868354.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "n.1275A>T",
"hgvs_p": null,
"transcript": "ENST00000566319.2",
"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": "ENST00000566319.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "n.*1033A>T",
"hgvs_p": null,
"transcript": "ENST00000696809.1",
"protein_id": "ENSP00000512887.1",
"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": "ENST00000696809.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "n.*87A>T",
"hgvs_p": null,
"transcript": "ENST00000699276.1",
"protein_id": "ENSP00000514257.1",
"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": "ENST00000699276.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "n.*1033A>T",
"hgvs_p": null,
"transcript": "ENST00000696809.1",
"protein_id": "ENSP00000512887.1",
"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": "ENST00000696809.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "n.*87A>T",
"hgvs_p": null,
"transcript": "ENST00000699276.1",
"protein_id": "ENSP00000514257.1",
"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": "ENST00000699276.1"
}
],
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"dbsnp": "rs9934849",
"frequency_reference_population": 0.00076025416,
"hom_count_reference_population": 9,
"allele_count_reference_population": 1227,
"gnomad_exomes_af": 0.000400192,
"gnomad_genomes_af": 0.00421996,
"gnomad_exomes_ac": 585,
"gnomad_genomes_ac": 642,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009242206811904907,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.27000001072883606,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.239,
"revel_prediction": "Benign",
"alphamissense_score": 0.124,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.222,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.27,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000293.3",
"gene_symbol": "PHKB",
"hgnc_id": 8927,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2459A>T",
"hgvs_p": "p.Glu820Val"
}
],
"clinvar_disease": "Glycogen storage disease IXb,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "not provided|not specified|Glycogen storage disease IXb",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}