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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: 3-9840755-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9840755&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9840755,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_173659.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145His",
"transcript": "NM_173659.5",
"protein_id": "NP_775930.3",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 343,
"cds_start": 434,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000383820.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173659.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145His",
"transcript": "ENST00000383820.10",
"protein_id": "ENSP00000373331.6",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 343,
"cds_start": 434,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173659.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383820.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.389G>A",
"hgvs_p": "p.Arg130His",
"transcript": "ENST00000433535.7",
"protein_id": "ENSP00000398921.3",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 328,
"cds_start": 389,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433535.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Arg187His",
"transcript": "ENST00000923702.1",
"protein_id": "ENSP00000593761.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 385,
"cds_start": 560,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923702.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145His",
"transcript": "ENST00000954644.1",
"protein_id": "ENSP00000624703.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 355,
"cds_start": 434,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954644.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145His",
"transcript": "ENST00000923701.1",
"protein_id": "ENSP00000593760.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 343,
"cds_start": 434,
"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": "ENST00000923701.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Arg143His",
"transcript": "ENST00000870303.1",
"protein_id": "ENSP00000540362.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 341,
"cds_start": 428,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870303.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Arg142His",
"transcript": "ENST00000923703.1",
"protein_id": "ENSP00000593762.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 340,
"cds_start": 425,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923703.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Arg135His",
"transcript": "ENST00000954645.1",
"protein_id": "ENSP00000624704.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 333,
"cds_start": 404,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954645.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.389G>A",
"hgvs_p": "p.Arg130His",
"transcript": "NM_001142547.3",
"protein_id": "NP_001136019.2",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 328,
"cds_start": 389,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142547.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145His",
"transcript": "NM_001351738.2",
"protein_id": "NP_001338667.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 281,
"cds_start": 434,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351738.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Arg143His",
"transcript": "ENST00000427174.5",
"protein_id": "ENSP00000400397.1",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 279,
"cds_start": 428,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427174.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145His",
"transcript": "ENST00000923705.1",
"protein_id": "ENSP00000593764.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 255,
"cds_start": 434,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923705.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145His",
"transcript": "ENST00000418713.6",
"protein_id": "ENSP00000415616.2",
"transcript_support_level": 2,
"aa_start": 145,
"aa_end": null,
"aa_length": 242,
"cds_start": 434,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418713.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145His",
"transcript": "NM_001351737.2",
"protein_id": "NP_001338666.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 236,
"cds_start": 434,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351737.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "NM_001351736.3",
"protein_id": "NP_001338665.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 212,
"cds_start": 362,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351736.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "ENST00000424438.5",
"protein_id": "ENSP00000408693.1",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 212,
"cds_start": 362,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424438.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.918+11360C>T",
"hgvs_p": null,
"transcript": "ENST00000455274.5",
"protein_id": "ENSP00000409632.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": null,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455274.5"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.384-139G>A",
"hgvs_p": null,
"transcript": "ENST00000870304.1",
"protein_id": "ENSP00000540363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870304.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.246+1228G>A",
"hgvs_p": null,
"transcript": "ENST00000923704.1",
"protein_id": "ENSP00000593763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 145,
"cds_start": null,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923704.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.201+1228G>A",
"hgvs_p": null,
"transcript": "ENST00000923706.1",
"protein_id": "ENSP00000593765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": null,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923706.1"
},
{
"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": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "n.112G>A",
"hgvs_p": null,
"transcript": "ENST00000464783.1",
"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": "retained_intron",
"feature": "ENST00000464783.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "n.750G>A",
"hgvs_p": null,
"transcript": "ENST00000472381.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000472381.5"
},
{
"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": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "n.1640G>A",
"hgvs_p": null,
"transcript": "ENST00000475470.1",
"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": "retained_intron",
"feature": "ENST00000475470.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "n.1637G>A",
"hgvs_p": null,
"transcript": "ENST00000484134.5",
"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": "retained_intron",
"feature": "ENST00000484134.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.-140G>A",
"hgvs_p": null,
"transcript": "ENST00000423108.5",
"protein_id": "ENSP00000405054.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 143,
"cds_start": null,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423108.5"
}
],
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"dbsnp": "rs770831407",
"frequency_reference_population": 0.00000752465,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000752465,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1315785050392151,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.059,
"revel_prediction": "Benign",
"alphamissense_score": 0.0742,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.611,
"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_173659.5",
"gene_symbol": "RPUSD3",
"hgnc_id": 28437,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145His"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000455274.5",
"gene_symbol": "TTLL3",
"hgnc_id": 24483,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.918+11360C>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
}