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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: 6-169613655-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=169613655&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 169613655,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_182552.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2225G>T",
"hgvs_p": "p.Gly742Val",
"transcript": "NM_182552.5",
"protein_id": "NP_872358.4",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 895,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000448612.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182552.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2225G>T",
"hgvs_p": "p.Gly742Val",
"transcript": "ENST00000448612.6",
"protein_id": "ENSP00000416289.1",
"transcript_support_level": 1,
"aa_start": 742,
"aa_end": null,
"aa_length": 895,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182552.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448612.6"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.1844G>T",
"hgvs_p": "p.Gly615Val",
"transcript": "ENST00000423258.5",
"protein_id": "ENSP00000397869.1",
"transcript_support_level": 1,
"aa_start": 615,
"aa_end": null,
"aa_length": 730,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423258.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285733",
"gene_hgnc_id": null,
"hgvs_c": "c.332-11334G>T",
"hgvs_p": null,
"transcript": "ENST00000648086.1",
"protein_id": "ENSP00000497979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 232,
"cds_start": null,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648086.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "n.1606G>T",
"hgvs_p": null,
"transcript": "ENST00000546525.5",
"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": "ENST00000546525.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2135G>T",
"hgvs_p": "p.Gly712Val",
"transcript": "ENST00000850900.1",
"protein_id": "ENSP00000520975.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 827,
"cds_start": 2135,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850900.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.1844G>T",
"hgvs_p": "p.Gly615Val",
"transcript": "NM_001202550.2",
"protein_id": "NP_001189479.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 730,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202550.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.1652G>T",
"hgvs_p": "p.Gly551Val",
"transcript": "NM_001350623.2",
"protein_id": "NP_001337552.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 666,
"cds_start": 1652,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350623.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2225G>T",
"hgvs_p": "p.Gly742Val",
"transcript": "XM_011535682.4",
"protein_id": "XP_011533984.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 890,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535682.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2225G>T",
"hgvs_p": "p.Gly742Val",
"transcript": "XM_011535684.4",
"protein_id": "XP_011533986.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 873,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535684.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2225G>T",
"hgvs_p": "p.Gly742Val",
"transcript": "XM_047418584.1",
"protein_id": "XP_047274540.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 869,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418584.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2225G>T",
"hgvs_p": "p.Gly742Val",
"transcript": "XM_011535685.4",
"protein_id": "XP_011533987.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 867,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535685.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2225G>T",
"hgvs_p": "p.Gly742Val",
"transcript": "XM_017010660.3",
"protein_id": "XP_016866149.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 857,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010660.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2225G>T",
"hgvs_p": "p.Gly742Val",
"transcript": "XM_011535687.4",
"protein_id": "XP_011533989.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 855,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535687.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2225G>T",
"hgvs_p": "p.Gly742Val",
"transcript": "XM_011535688.4",
"protein_id": "XP_011533990.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 855,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535688.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2225G>T",
"hgvs_p": "p.Gly742Val",
"transcript": "XM_011535691.4",
"protein_id": "XP_011533993.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 853,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535691.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2225G>T",
"hgvs_p": "p.Gly742Val",
"transcript": "XM_011535692.4",
"protein_id": "XP_011533994.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 847,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535692.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.1652G>T",
"hgvs_p": "p.Gly551Val",
"transcript": "XM_017010669.2",
"protein_id": "XP_016866158.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 666,
"cds_start": 1652,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010669.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.332-11334G>T",
"hgvs_p": null,
"transcript": "ENST00000897347.1",
"protein_id": "ENSP00000567406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897347.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.332-11334G>T",
"hgvs_p": null,
"transcript": "ENST00000923577.1",
"protein_id": "ENSP00000593636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923577.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2224-11334G>T",
"hgvs_p": null,
"transcript": "XM_047418586.1",
"protein_id": "XP_047274542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": null,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418586.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"non_coding_transcript_exon_variant"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
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"non_coding_transcript_exon_variant"
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{
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"non_coding_transcript_exon_variant"
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{
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{
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"non_coding_transcript_exon_variant"
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{
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"non_coding_transcript_exon_variant"
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"feature": "XR_007059231.1"
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"gene_symbol": "WDR27",
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"feature": "ENST00000648472.1"
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{
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"protein_coding": false,
"strand": false,
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},
{
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"intron_variant"
],
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"gene_symbol": "WDR27",
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"hgvs_c": "n.*2528-11334G>T",
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"transcript": "ENST00000647790.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647790.1"
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],
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"dbsnp": "rs1461672153",
"frequency_reference_population": 0.0000014000015,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000014,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7115591764450073,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.2460000067949295,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.246,
"revel_prediction": "Benign",
"alphamissense_score": 0.6545,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.719,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.168750105204659,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_182552.5",
"gene_symbol": "WDR27",
"hgnc_id": 21248,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2225G>T",
"hgvs_p": "p.Gly742Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000648086.1",
"gene_symbol": "ENSG00000285733",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.332-11334G>T",
"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
}