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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: 11-76194596-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=76194596&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 76194596,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004626.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"transcript": "NM_004626.3",
"protein_id": "NP_004617.2",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 354,
"cds_start": 568,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322563.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004626.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"transcript": "ENST00000322563.8",
"protein_id": "ENSP00000325526.3",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 354,
"cds_start": 568,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004626.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322563.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.598C>A",
"hgvs_p": "p.Arg200Ser",
"transcript": "ENST00000961018.1",
"protein_id": "ENSP00000631077.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 364,
"cds_start": 598,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961018.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.598C>A",
"hgvs_p": "p.Arg200Ser",
"transcript": "ENST00000961028.1",
"protein_id": "ENSP00000631087.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 364,
"cds_start": 598,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961028.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"transcript": "ENST00000864022.1",
"protein_id": "ENSP00000534081.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 354,
"cds_start": 568,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864022.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"transcript": "ENST00000864023.1",
"protein_id": "ENSP00000534082.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 354,
"cds_start": 568,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864023.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"transcript": "ENST00000864024.1",
"protein_id": "ENSP00000534083.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 354,
"cds_start": 568,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864024.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"transcript": "ENST00000961017.1",
"protein_id": "ENSP00000631076.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 354,
"cds_start": 568,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961017.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"transcript": "ENST00000961019.1",
"protein_id": "ENSP00000631078.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 354,
"cds_start": 568,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961019.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"transcript": "ENST00000961020.1",
"protein_id": "ENSP00000631079.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 354,
"cds_start": 568,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961020.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"transcript": "ENST00000961021.1",
"protein_id": "ENSP00000631080.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 354,
"cds_start": 568,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961021.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"transcript": "ENST00000961022.1",
"protein_id": "ENSP00000631081.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 354,
"cds_start": 568,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961022.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"transcript": "ENST00000961023.1",
"protein_id": "ENSP00000631082.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 354,
"cds_start": 568,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961023.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"transcript": "ENST00000961024.1",
"protein_id": "ENSP00000631083.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 354,
"cds_start": 568,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961024.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"transcript": "ENST00000961025.1",
"protein_id": "ENSP00000631084.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 354,
"cds_start": 568,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961025.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"transcript": "ENST00000961026.1",
"protein_id": "ENSP00000631085.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 354,
"cds_start": 568,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961026.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"transcript": "ENST00000961027.1",
"protein_id": "ENSP00000631086.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 354,
"cds_start": 568,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961027.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.598C>A",
"hgvs_p": "p.Arg200Ser",
"transcript": "XM_011545238.2",
"protein_id": "XP_011543540.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 364,
"cds_start": 598,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545238.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.598C>A",
"hgvs_p": "p.Arg200Ser",
"transcript": "XM_011545239.3",
"protein_id": "XP_011543541.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 364,
"cds_start": 598,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545239.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.598C>A",
"hgvs_p": "p.Arg200Ser",
"transcript": "XM_011545240.3",
"protein_id": "XP_011543542.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 364,
"cds_start": 598,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545240.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.598C>A",
"hgvs_p": "p.Arg200Ser",
"transcript": "XM_047427546.1",
"protein_id": "XP_047283502.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 364,
"cds_start": 598,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427546.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT11",
"gene_hgnc_id": 12776,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"transcript": "XM_005274231.2",
"protein_id": "XP_005274288.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 354,
"cds_start": 568,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274231.2"
},
{
"aa_ref": "R",
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{
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{
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"biotype": "pseudogene",
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],
"gene_symbol": "WNT11",
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"dbsnp": "rs1051229461",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5949602127075195,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.38,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3801,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.745,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"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,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004626.3",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000527314.1",
"gene_symbol": "ENSG00000254933",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.183-45G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}