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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: 10-102423820-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102423820&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102423820,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024040.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Leu212Met",
"transcript": "NM_024040.3",
"protein_id": "NP_076945.2",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 287,
"cds_start": 634,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369937.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024040.3"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Leu212Met",
"transcript": "ENST00000369937.5",
"protein_id": "ENSP00000358953.4",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 287,
"cds_start": 634,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024040.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369937.5"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.640C>A",
"hgvs_p": "p.Leu214Met",
"transcript": "ENST00000888785.1",
"protein_id": "ENSP00000558844.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 289,
"cds_start": 640,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888785.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.640C>A",
"hgvs_p": "p.Leu214Met",
"transcript": "ENST00000925790.1",
"protein_id": "ENSP00000595849.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 289,
"cds_start": 640,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925790.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.640C>A",
"hgvs_p": "p.Leu214Met",
"transcript": "ENST00000925792.1",
"protein_id": "ENSP00000595851.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 289,
"cds_start": 640,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925792.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Leu212Met",
"transcript": "ENST00000888778.1",
"protein_id": "ENSP00000558837.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 287,
"cds_start": 634,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888778.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Leu212Met",
"transcript": "ENST00000888779.1",
"protein_id": "ENSP00000558838.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 287,
"cds_start": 634,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888779.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Leu212Met",
"transcript": "ENST00000888780.1",
"protein_id": "ENSP00000558839.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 287,
"cds_start": 634,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888780.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Leu212Met",
"transcript": "ENST00000888781.1",
"protein_id": "ENSP00000558840.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 287,
"cds_start": 634,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888781.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Leu212Met",
"transcript": "ENST00000888783.1",
"protein_id": "ENSP00000558842.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 287,
"cds_start": 634,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888783.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Leu212Met",
"transcript": "ENST00000925786.1",
"protein_id": "ENSP00000595845.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 287,
"cds_start": 634,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925786.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Leu212Met",
"transcript": "ENST00000925787.1",
"protein_id": "ENSP00000595846.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 287,
"cds_start": 634,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925787.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Leu212Met",
"transcript": "ENST00000925788.1",
"protein_id": "ENSP00000595847.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 287,
"cds_start": 634,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925788.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Leu212Met",
"transcript": "ENST00000925793.1",
"protein_id": "ENSP00000595852.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 287,
"cds_start": 634,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925793.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Leu212Met",
"transcript": "ENST00000925794.1",
"protein_id": "ENSP00000595853.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 287,
"cds_start": 634,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925794.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Leu212Met",
"transcript": "ENST00000941433.1",
"protein_id": "ENSP00000611492.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 287,
"cds_start": 634,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941433.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Leu212Met",
"transcript": "ENST00000941431.1",
"protein_id": "ENSP00000611490.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 275,
"cds_start": 634,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941431.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.580C>A",
"hgvs_p": "p.Leu194Met",
"transcript": "ENST00000888784.1",
"protein_id": "ENSP00000558843.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 269,
"cds_start": 580,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888784.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.559C>A",
"hgvs_p": "p.Leu187Met",
"transcript": "ENST00000941432.1",
"protein_id": "ENSP00000611491.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 262,
"cds_start": 559,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941432.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.556C>A",
"hgvs_p": "p.Leu186Met",
"transcript": "ENST00000888782.1",
"protein_id": "ENSP00000558841.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 261,
"cds_start": 556,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888782.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"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": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.451C>A",
"hgvs_p": "p.Leu151Met",
"transcript": "ENST00000925789.1",
"protein_id": "ENSP00000595848.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 226,
"cds_start": 451,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925789.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"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": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.268C>A",
"hgvs_p": "p.Leu90Met",
"transcript": "ENST00000925791.1",
"protein_id": "ENSP00000595850.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 165,
"cds_start": 268,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925791.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "n.485C>A",
"hgvs_p": null,
"transcript": "ENST00000465409.1",
"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": "pseudogene",
"feature": "ENST00000465409.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "n.*211C>A",
"hgvs_p": null,
"transcript": "ENST00000477994.1",
"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": "pseudogene",
"feature": "ENST00000477994.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "n.*189C>A",
"hgvs_p": null,
"transcript": "ENST00000486762.6",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000486762.6"
}
],
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"dbsnp": "rs752010575",
"frequency_reference_population": 0.0000030982544,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273675,
"gnomad_genomes_af": 0.00000656927,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.39620649814605713,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.688,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1897,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.217,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024040.3",
"gene_symbol": "CUEDC2",
"hgnc_id": 28352,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Leu212Met"
}
],
"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
}