← Back to variant description
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: 4-128872050-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=128872050&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 128872050,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_199320.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "NM_199320.4",
"protein_id": "NP_955352.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000226319.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199320.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000226319.11",
"protein_id": "ENSP00000226319.6",
"transcript_support_level": 5,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_199320.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000226319.11"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2416C>T",
"hgvs_p": "p.His806Tyr",
"transcript": "ENST00000947587.1",
"protein_id": "ENSP00000617646.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 875,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947587.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2389C>T",
"hgvs_p": "p.His797Tyr",
"transcript": "ENST00000887597.1",
"protein_id": "ENSP00000557656.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 866,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887597.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2389C>T",
"hgvs_p": "p.His797Tyr",
"transcript": "ENST00000933993.1",
"protein_id": "ENSP00000604052.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 866,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933993.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2389C>T",
"hgvs_p": "p.His797Tyr",
"transcript": "ENST00000933995.1",
"protein_id": "ENSP00000604054.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 866,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933995.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2389C>T",
"hgvs_p": "p.His797Tyr",
"transcript": "ENST00000947588.1",
"protein_id": "ENSP00000617647.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 866,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947588.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "NM_001287439.2",
"protein_id": "NP_001274368.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287439.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "NM_001287440.2",
"protein_id": "NP_001274369.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287440.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "NM_001287442.1",
"protein_id": "NP_001274371.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287442.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "NM_001287443.1",
"protein_id": "NP_001274372.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287443.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000512960.5",
"protein_id": "ENSP00000425730.1",
"transcript_support_level": 2,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512960.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000610919.4",
"protein_id": "ENSP00000483219.1",
"transcript_support_level": 5,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610919.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000611140.4",
"protein_id": "ENSP00000482212.1",
"transcript_support_level": 5,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611140.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000887598.1",
"protein_id": "ENSP00000557657.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887598.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000887600.1",
"protein_id": "ENSP00000557659.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887600.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000887601.1",
"protein_id": "ENSP00000557660.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887601.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000887603.1",
"protein_id": "ENSP00000557662.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887603.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000887604.1",
"protein_id": "ENSP00000557663.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887604.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000887605.1",
"protein_id": "ENSP00000557664.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887605.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000887606.1",
"protein_id": "ENSP00000557665.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887606.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000933989.1",
"protein_id": "ENSP00000604048.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933989.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000933992.1",
"protein_id": "ENSP00000604051.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933992.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000933994.1",
"protein_id": "ENSP00000604053.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933994.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000933996.1",
"protein_id": "ENSP00000604055.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933996.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000933997.1",
"protein_id": "ENSP00000604056.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933997.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000933998.1",
"protein_id": "ENSP00000604057.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933998.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000933999.1",
"protein_id": "ENSP00000604058.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933999.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000947590.1",
"protein_id": "ENSP00000617649.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947590.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "ENST00000947593.1",
"protein_id": "ENSP00000617652.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947593.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2281C>T",
"hgvs_p": "p.His761Tyr",
"transcript": "NM_001287437.2",
"protein_id": "NP_001274366.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 830,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287437.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2281C>T",
"hgvs_p": "p.His761Tyr",
"transcript": "ENST00000452328.6",
"protein_id": "ENSP00000388015.2",
"transcript_support_level": 2,
"aa_start": 761,
"aa_end": null,
"aa_length": 830,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452328.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2200C>T",
"hgvs_p": "p.His734Tyr",
"transcript": "ENST00000933990.1",
"protein_id": "ENSP00000604049.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 803,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933990.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2200C>T",
"hgvs_p": "p.His734Tyr",
"transcript": "ENST00000947591.1",
"protein_id": "ENSP00000617650.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 803,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947591.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2149C>T",
"hgvs_p": "p.His717Tyr",
"transcript": "ENST00000887596.1",
"protein_id": "ENSP00000557655.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 786,
"cds_start": 2149,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887596.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2149C>T",
"hgvs_p": "p.His717Tyr",
"transcript": "ENST00000947592.1",
"protein_id": "ENSP00000617651.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 786,
"cds_start": 2149,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947592.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2050C>T",
"hgvs_p": "p.His684Tyr",
"transcript": "ENST00000887595.1",
"protein_id": "ENSP00000557654.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 753,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887595.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2050C>T",
"hgvs_p": "p.His684Tyr",
"transcript": "ENST00000887599.1",
"protein_id": "ENSP00000557658.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 753,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887599.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2050C>T",
"hgvs_p": "p.His684Tyr",
"transcript": "ENST00000887602.1",
"protein_id": "ENSP00000557661.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 753,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887602.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2032C>T",
"hgvs_p": "p.His678Tyr",
"transcript": "ENST00000933991.1",
"protein_id": "ENSP00000604050.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 747,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933991.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2032C>T",
"hgvs_p": "p.His678Tyr",
"transcript": "ENST00000947589.1",
"protein_id": "ENSP00000617648.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 747,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947589.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.1795C>T",
"hgvs_p": "p.His599Tyr",
"transcript": "ENST00000887594.1",
"protein_id": "ENSP00000557653.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 668,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887594.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2362C>T",
"hgvs_p": "p.His788Tyr",
"transcript": "XM_024454218.2",
"protein_id": "XP_024309986.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 857,
"cds_start": 2362,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454218.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.His786Tyr",
"transcript": "XM_024454219.2",
"protein_id": "XP_024309987.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 855,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454219.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "XM_024454217.2",
"protein_id": "XP_024309985.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454217.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr",
"transcript": "XM_047416183.1",
"protein_id": "XP_047272139.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 842,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416183.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.*609C>T",
"hgvs_p": null,
"transcript": "XM_017008626.3",
"protein_id": "XP_016864115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": null,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008626.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.*609C>T",
"hgvs_p": null,
"transcript": "XM_017008627.2",
"protein_id": "XP_016864116.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": null,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008627.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.*609C>T",
"hgvs_p": null,
"transcript": "XM_024454221.2",
"protein_id": "XP_024309989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": null,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454221.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "n.663+155G>A",
"hgvs_p": null,
"transcript": "ENST00000503565.5",
"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": "ENST00000503565.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "n.*649+155G>A",
"hgvs_p": null,
"transcript": "ENST00000651532.1",
"protein_id": "ENSP00000498519.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651532.1"
}
],
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"dbsnp": "rs1385296757",
"frequency_reference_population": 0.0000080548225,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000684126,
"gnomad_genomes_af": 0.0000197081,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09350815415382385,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.019,
"revel_prediction": "Benign",
"alphamissense_score": 0.0703,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.668,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_199320.4",
"gene_symbol": "JADE1",
"hgnc_id": 30027,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.His773Tyr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000651532.1",
"gene_symbol": "SCLT1",
"hgnc_id": 26406,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*649+155G>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
}