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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: 3-101685871-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=101685871&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 101685871,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000986.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "NM_000986.4",
"protein_id": "NP_000977.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 157,
"cds_start": 139,
"cds_end": null,
"cds_length": 474,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 560,
"mane_select": "ENST00000394077.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000986.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000394077.8",
"protein_id": "ENSP00000377640.3",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 157,
"cds_start": 139,
"cds_end": null,
"cds_length": 474,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 560,
"mane_select": "NM_000986.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394077.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "n.289C>T",
"hgvs_p": null,
"transcript": "ENST00000464595.1",
"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": 668,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000464595.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000915208.1",
"protein_id": "ENSP00000585267.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 157,
"cds_start": 139,
"cds_end": null,
"cds_length": 474,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915208.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Arg42Trp",
"transcript": "ENST00000889763.1",
"protein_id": "ENSP00000559822.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 152,
"cds_start": 124,
"cds_end": null,
"cds_length": 459,
"cdna_start": 166,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889763.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000915209.1",
"protein_id": "ENSP00000585268.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 152,
"cds_start": 139,
"cds_end": null,
"cds_length": 459,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915209.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000469605.2",
"protein_id": "ENSP00000420380.1",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 150,
"cds_start": 139,
"cds_end": null,
"cds_length": 453,
"cdna_start": 177,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469605.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000915213.1",
"protein_id": "ENSP00000585272.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 146,
"cds_start": 139,
"cds_end": null,
"cds_length": 441,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915213.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "c.91C>T",
"hgvs_p": "p.Arg31Trp",
"transcript": "ENST00000915212.1",
"protein_id": "ENSP00000585271.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 141,
"cds_start": 91,
"cds_end": null,
"cds_length": 426,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915212.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000495401.5",
"protein_id": "ENSP00000419179.1",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 121,
"cds_start": 139,
"cds_end": null,
"cds_length": 366,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495401.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000915210.1",
"protein_id": "ENSP00000585269.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 90,
"cds_start": 139,
"cds_end": null,
"cds_length": 273,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915210.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124906262",
"gene_hgnc_id": null,
"hgvs_c": "c.-1508G>A",
"hgvs_p": null,
"transcript": "XM_047449411.1",
"protein_id": "XP_047305367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": null,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449411.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124906262",
"gene_hgnc_id": null,
"hgvs_c": "c.-1508G>A",
"hgvs_p": null,
"transcript": "XM_047449412.1",
"protein_id": "XP_047305368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": null,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449412.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124906262",
"gene_hgnc_id": null,
"hgvs_c": "c.-1508G>A",
"hgvs_p": null,
"transcript": "XM_047449413.1",
"protein_id": "XP_047305369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": null,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449413.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124906262",
"gene_hgnc_id": null,
"hgvs_c": "c.-1508G>A",
"hgvs_p": null,
"transcript": "XM_047449414.1",
"protein_id": "XP_047305370.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": null,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449414.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124906262",
"gene_hgnc_id": null,
"hgvs_c": "c.-1508G>A",
"hgvs_p": null,
"transcript": "XM_047449415.1",
"protein_id": "XP_047305371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 708,
"cds_start": null,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449415.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "c.81+611C>T",
"hgvs_p": null,
"transcript": "ENST00000915211.1",
"protein_id": "ENSP00000585270.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915211.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "n.196C>T",
"hgvs_p": null,
"transcript": "ENST00000488288.2",
"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": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000488288.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "n.139C>T",
"hgvs_p": null,
"transcript": "ENST00000704284.1",
"protein_id": "ENSP00000515814.1",
"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": 665,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000704284.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "n.162C>T",
"hgvs_p": null,
"transcript": "ENST00000704285.1",
"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": 812,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000704285.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "n.259C>T",
"hgvs_p": null,
"transcript": "ENST00000704286.1",
"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": 2115,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000704286.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "n.732C>T",
"hgvs_p": null,
"transcript": "ENST00000704287.1",
"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": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000704287.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "n.167C>T",
"hgvs_p": null,
"transcript": "ENST00000704288.1",
"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": 1680,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000704288.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL24",
"gene_hgnc_id": 10325,
"hgvs_c": "n.*158C>T",
"hgvs_p": null,
"transcript": "ENST00000470961.1",
"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": 572,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470961.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB11-AS1",
"gene_hgnc_id": 48573,
"hgvs_c": "n.*202G>A",
"hgvs_p": null,
"transcript": "ENST00000851071.1",
"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": 1627,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000851071.1"
}
],
"gene_symbol": "RPL24",
"gene_hgnc_id": 10325,
"dbsnp": "rs139319109",
"frequency_reference_population": 0.0000012392464,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84139e-7,
"gnomad_genomes_af": 0.00000657065,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8727272748947144,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.644,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9925,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.247,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000986.4",
"gene_symbol": "RPL24",
"hgnc_id": 10325,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XM_047449411.1",
"gene_symbol": "LOC124906262",
"hgnc_id": null,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-1508G>A",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000851071.1",
"gene_symbol": "ZBTB11-AS1",
"hgnc_id": 48573,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*202G>A",
"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
}