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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: 11-47573430-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47573430&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47573430,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001318716.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Val369Ile",
"transcript": "NM_018095.6",
"protein_id": "NP_060565.4",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 534,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000430070.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018095.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Val369Ile",
"transcript": "ENST00000430070.7",
"protein_id": "ENSP00000415106.2",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 534,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018095.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430070.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Val378Ile",
"transcript": "ENST00000533290.5",
"protein_id": "ENSP00000436713.1",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 543,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533290.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPMT1",
"gene_hgnc_id": 26965,
"hgvs_c": "c.*1801C>T",
"hgvs_p": null,
"transcript": "NM_175732.3",
"protein_id": "NP_783859.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326674.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175732.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPMT1",
"gene_hgnc_id": 26965,
"hgvs_c": "c.*1801C>T",
"hgvs_p": null,
"transcript": "ENST00000326674.10",
"protein_id": "ENSP00000325958.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_175732.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326674.10"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPMT1",
"gene_hgnc_id": 26965,
"hgvs_c": "n.2241C>T",
"hgvs_p": null,
"transcript": "ENST00000527079.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000527079.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"hgvs_c": "c.1204G>A",
"hgvs_p": "p.Val402Ile",
"transcript": "NM_001318716.2",
"protein_id": "NP_001305645.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 567,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318716.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Val392Ile",
"transcript": "NM_001318717.2",
"protein_id": "NP_001305646.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 557,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318717.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Val378Ile",
"transcript": "NM_001318718.2",
"protein_id": "NP_001305647.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 543,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318718.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Val378Ile",
"transcript": "NM_001318719.2",
"protein_id": "NP_001305648.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 543,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318719.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Val376Ile",
"transcript": "NM_001318720.2",
"protein_id": "NP_001305649.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 541,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318720.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Val353Ile",
"transcript": "NM_001318721.2",
"protein_id": "NP_001305650.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 518,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318721.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Val353Ile",
"transcript": "NM_001318722.2",
"protein_id": "NP_001305651.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 518,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318722.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Val353Ile",
"transcript": "NM_001318723.2",
"protein_id": "NP_001305652.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 518,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318723.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Val353Ile",
"transcript": "NM_001318724.2",
"protein_id": "NP_001305653.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 518,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318724.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Val353Ile",
"transcript": "NM_001318725.2",
"protein_id": "NP_001305654.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 518,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318725.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Val353Ile",
"transcript": "NM_016506.7",
"protein_id": "NP_057590.3",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 518,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016506.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Val353Ile",
"transcript": "ENST00000395288.6",
"protein_id": "ENSP00000378703.2",
"transcript_support_level": 2,
"aa_start": 353,
"aa_end": null,
"aa_length": 518,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395288.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Val353Ile",
"transcript": "ENST00000526005.5",
"protein_id": "ENSP00000433340.1",
"transcript_support_level": 5,
"aa_start": 353,
"aa_end": null,
"aa_length": 518,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526005.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"hgvs_c": "c.652G>A",
"hgvs_p": "p.Val218Ile",
"transcript": "ENST00000962990.1",
"protein_id": "ENSP00000633049.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 383,
"cds_start": 652,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962990.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPMT1",
"gene_hgnc_id": 26965,
"hgvs_c": "c.*1801C>T",
"hgvs_p": null,
"transcript": "ENST00000914915.1",
"protein_id": "ENSP00000584974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": null,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914915.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPMT1",
"gene_hgnc_id": 26965,
"hgvs_c": "c.*1868C>T",
"hgvs_p": null,
"transcript": "NM_001143984.2",
"protein_id": "NP_001137456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": null,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143984.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPMT1",
"gene_hgnc_id": 26965,
"hgvs_c": "c.*1801C>T",
"hgvs_p": null,
"transcript": "ENST00000962873.1",
"protein_id": "ENSP00000632932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": null,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962873.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"hgvs_c": "c.20-289G>A",
"hgvs_p": null,
"transcript": "ENST00000915129.1",
"protein_id": "ENSP00000585188.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": null,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915129.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NDUFS3",
"gene_hgnc_id": 7710,
"hgvs_c": "n.815+1687C>T",
"hgvs_p": null,
"transcript": "ENST00000533507.5",
"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": "pseudogene",
"feature": "ENST00000533507.5"
}
],
"gene_symbol": "KBTBD4",
"gene_hgnc_id": 23761,
"dbsnp": "rs748955906",
"frequency_reference_population": 0.000018586394,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000171011,
"gnomad_genomes_af": 0.0000328532,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3866366744041443,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.276,
"revel_prediction": "Benign",
"alphamissense_score": 0.1167,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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_001318716.2",
"gene_symbol": "KBTBD4",
"hgnc_id": 23761,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1204G>A",
"hgvs_p": "p.Val402Ile"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_175732.3",
"gene_symbol": "PTPMT1",
"hgnc_id": 26965,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*1801C>T",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000533507.5",
"gene_symbol": "NDUFS3",
"hgnc_id": 7710,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.815+1687C>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
}