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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: 3-189215373-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=189215373&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 189215373,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_198485.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "NM_198485.4",
"protein_id": "NP_940887.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000345063.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198485.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000345063.8",
"protein_id": "ENSP00000341031.3",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198485.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345063.8"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000433971.5",
"protein_id": "ENSP00000412547.1",
"transcript_support_level": 2,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000433971.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000867713.1",
"protein_id": "ENSP00000537772.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000867713.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000867714.1",
"protein_id": "ENSP00000537773.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000867714.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000867715.1",
"protein_id": "ENSP00000537774.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000867715.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000867716.1",
"protein_id": "ENSP00000537775.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000867716.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000867717.1",
"protein_id": "ENSP00000537776.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000867717.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000867719.1",
"protein_id": "ENSP00000537778.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000867719.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000867720.1",
"protein_id": "ENSP00000537779.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000867720.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000867721.1",
"protein_id": "ENSP00000537780.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000867721.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000867722.1",
"protein_id": "ENSP00000537781.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000867722.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000867723.1",
"protein_id": "ENSP00000537782.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000867723.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000867724.1",
"protein_id": "ENSP00000537783.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000867724.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000949786.1",
"protein_id": "ENSP00000619845.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000949786.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000949787.1",
"protein_id": "ENSP00000619846.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000949787.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000949788.1",
"protein_id": "ENSP00000619847.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000949788.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000949789.1",
"protein_id": "ENSP00000619848.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000949789.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000949790.1",
"protein_id": "ENSP00000619849.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000949790.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000949791.1",
"protein_id": "ENSP00000619850.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000949791.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000949792.1",
"protein_id": "ENSP00000619851.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 275,
"cds_start": 292,
"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": "ENST00000949792.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000867718.1",
"protein_id": "ENSP00000537777.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 216,
"cds_start": 292,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
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"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512736.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Leu106Phe",
"transcript": "XM_005247388.5",
"protein_id": "XP_005247445.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 163,
"cds_start": 316,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247388.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "c.-134C>T",
"hgvs_p": null,
"transcript": "XM_017006263.1",
"protein_id": "XP_016861752.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": null,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006263.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "TPRG1",
"gene_hgnc_id": 24759,
"hgvs_c": "n.520C>T",
"hgvs_p": null,
"transcript": "ENST00000460613.5",
"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": "pseudogene",
"feature": "ENST00000460613.5"
}
],
"gene_symbol": "TPRG1",
"gene_hgnc_id": 24759,
"dbsnp": "rs763983041",
"frequency_reference_population": 0.00001055126,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000109664,
"gnomad_genomes_af": 0.00000657099,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7336984872817993,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.644,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3989,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.861,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 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_198485.4",
"gene_symbol": "TPRG1",
"hgnc_id": 24759,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe"
}
],
"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
}