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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: 21-42850105-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=42850105&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 42850105,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018669.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1183G>A",
"hgvs_p": "p.Gly395Arg",
"transcript": "NM_018669.6",
"protein_id": "NP_061139.2",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 412,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398208.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018669.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1183G>A",
"hgvs_p": "p.Gly395Arg",
"transcript": "ENST00000398208.3",
"protein_id": "ENSP00000381266.2",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 412,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018669.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398208.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1183G>A",
"hgvs_p": "p.Gly395Arg",
"transcript": "ENST00000330317.6",
"protein_id": "ENSP00000328671.2",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 412,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330317.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "n.1098G>A",
"hgvs_p": null,
"transcript": "ENST00000476326.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000476326.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1183G>A",
"hgvs_p": "p.Gly395Arg",
"transcript": "NM_033661.5",
"protein_id": "NP_387510.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 412,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033661.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Gly394Arg",
"transcript": "NM_001260474.2",
"protein_id": "NP_001247403.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 411,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260474.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Gly394Arg",
"transcript": "ENST00000899716.1",
"protein_id": "ENSP00000569775.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 411,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899716.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Gly394Arg",
"transcript": "ENST00000899718.1",
"protein_id": "ENSP00000569777.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 411,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899718.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1117G>A",
"hgvs_p": "p.Gly373Arg",
"transcript": "ENST00000931736.1",
"protein_id": "ENSP00000601795.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 390,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931736.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Arg",
"transcript": "ENST00000899717.1",
"protein_id": "ENSP00000569776.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 379,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899717.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1081G>A",
"hgvs_p": "p.Gly361Arg",
"transcript": "ENST00000931737.1",
"protein_id": "ENSP00000601796.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 378,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931737.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Gly348Arg",
"transcript": "ENST00000931738.1",
"protein_id": "ENSP00000601797.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 365,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931738.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Gly348Arg",
"transcript": "ENST00000931739.1",
"protein_id": "ENSP00000601798.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 365,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931739.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.976G>A",
"hgvs_p": "p.Gly326Arg",
"transcript": "ENST00000899719.1",
"protein_id": "ENSP00000569778.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 343,
"cds_start": 976,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899719.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.976G>A",
"hgvs_p": "p.Gly326Arg",
"transcript": "ENST00000949296.1",
"protein_id": "ENSP00000619355.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 343,
"cds_start": 976,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949296.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Gly305Arg",
"transcript": "ENST00000931735.1",
"protein_id": "ENSP00000601794.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 322,
"cds_start": 913,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931735.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Gly304Arg",
"transcript": "ENST00000931734.1",
"protein_id": "ENSP00000601793.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 321,
"cds_start": 910,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931734.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Gly304Arg",
"transcript": "ENST00000949297.1",
"protein_id": "ENSP00000619356.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 321,
"cds_start": 910,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949297.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Arg",
"transcript": "NM_001260475.2",
"protein_id": "NP_001247404.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 266,
"cds_start": 745,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260475.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Arg",
"transcript": "NM_001260476.2",
"protein_id": "NP_001247405.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 266,
"cds_start": 745,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260476.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Arg",
"transcript": "NM_001260477.2",
"protein_id": "NP_001247406.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 266,
"cds_start": 745,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260477.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Gly236Arg",
"transcript": "ENST00000931740.1",
"protein_id": "ENSP00000601799.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 253,
"cds_start": 706,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931740.1"
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 11,
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"gene_symbol": "WDR4",
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"hgvs_p": "p.Gly391Arg",
"transcript": "XM_011529433.2",
"protein_id": "XP_011527735.1",
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"aa_start": 391,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011529433.2"
},
{
"aa_ref": "G",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"gene_symbol": "WDR4",
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"hgvs_p": "p.Gly305Arg",
"transcript": "XM_017028263.2",
"protein_id": "XP_016883752.1",
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"aa_start": 305,
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"cds_start": 913,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_017028263.2"
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
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"exon_count": 10,
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"gene_symbol": "WDR4",
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"hgvs_c": "c.913G>A",
"hgvs_p": "p.Gly305Arg",
"transcript": "XM_017028264.2",
"protein_id": "XP_016883753.1",
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"aa_start": 305,
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"cds_length": 969,
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"biotype": "protein_coding",
"feature": "XM_017028264.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
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"exon_count": 11,
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"gene_symbol": "WDR4",
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"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Arg",
"transcript": "XM_024452047.2",
"protein_id": "XP_024307815.1",
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"aa_length": 266,
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"cds_length": 801,
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"biotype": "protein_coding",
"feature": "XM_024452047.2"
},
{
"aa_ref": "G",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
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"gene_symbol": "WDR4",
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"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Arg",
"transcript": "XM_024452048.2",
"protein_id": "XP_024307816.1",
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"biotype": "protein_coding",
"feature": "XM_024452048.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 11,
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"gene_symbol": "WDR4",
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"hgvs_c": "n.1326G>A",
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"transcript": "ENST00000492742.5",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000492742.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "n.1163G>A",
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"transcript": "NR_048535.1",
"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": "NR_048535.1"
}
],
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"dbsnp": "rs148519692",
"frequency_reference_population": 0.000077448196,
"hom_count_reference_population": 0,
"allele_count_reference_population": 125,
"gnomad_exomes_af": 0.0000820959,
"gnomad_genomes_af": 0.0000328351,
"gnomad_exomes_ac": 120,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09296587109565735,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.134,
"revel_prediction": "Benign",
"alphamissense_score": 0.1268,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.76,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018669.6",
"gene_symbol": "WDR4",
"hgnc_id": 12756,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1183G>A",
"hgvs_p": "p.Gly395Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}