← 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: 2-174422917-CTT-ATA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=174422917&ref=CTT&alt=ATA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SCRN3",
"hgnc_id": 30382,
"hgvs_c": "c.847_849delCTTinsATA",
"hgvs_p": "p.Leu283Ile",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001412210.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ATA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "L",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 884,
"cds_end": null,
"cds_length": 1275,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024583.5",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.787_789delCTTinsATA",
"hgvs_p": "p.Leu263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000272732.11",
"protein_coding": true,
"protein_id": "NP_078859.2",
"strand": true,
"transcript": "NM_024583.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "L",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 884,
"cds_end": null,
"cds_length": 1275,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000272732.11",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.787_789delCTTinsATA",
"hgvs_p": "p.Leu263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024583.5",
"protein_coding": true,
"protein_id": "ENSP00000272732.6",
"strand": true,
"transcript": "ENST00000272732.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000548921.5",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "n.222_224delCTTinsATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000548921.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 444,
"aa_ref": "L",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3957,
"cdna_start": 1293,
"cds_end": null,
"cds_length": 1335,
"cds_start": 847,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412210.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.847_849delCTTinsATA",
"hgvs_p": "p.Leu283Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399139.1",
"strand": true,
"transcript": "NM_001412210.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "L",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4606,
"cdna_start": 1942,
"cds_end": null,
"cds_length": 1275,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412202.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.787_789delCTTinsATA",
"hgvs_p": "p.Leu263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399131.1",
"strand": true,
"transcript": "NM_001412202.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "L",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4024,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 1275,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412203.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.787_789delCTTinsATA",
"hgvs_p": "p.Leu263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399132.1",
"strand": true,
"transcript": "NM_001412203.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "L",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4062,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 1275,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412204.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.787_789delCTTinsATA",
"hgvs_p": "p.Leu263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399133.1",
"strand": true,
"transcript": "NM_001412204.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "L",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3720,
"cdna_start": 1056,
"cds_end": null,
"cds_length": 1275,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412205.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.787_789delCTTinsATA",
"hgvs_p": "p.Leu263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399134.1",
"strand": true,
"transcript": "NM_001412205.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "L",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3617,
"cdna_start": 953,
"cds_end": null,
"cds_length": 1275,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412206.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.787_789delCTTinsATA",
"hgvs_p": "p.Leu263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399135.1",
"strand": true,
"transcript": "NM_001412206.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "L",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3962,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 1275,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412207.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.787_789delCTTinsATA",
"hgvs_p": "p.Leu263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399136.1",
"strand": true,
"transcript": "NM_001412207.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "L",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4093,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1275,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412208.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.787_789delCTTinsATA",
"hgvs_p": "p.Leu263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399137.1",
"strand": true,
"transcript": "NM_001412208.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "L",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4063,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 1275,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877601.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.787_789delCTTinsATA",
"hgvs_p": "p.Leu263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547660.1",
"strand": true,
"transcript": "ENST00000877601.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "L",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3958,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1275,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877602.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.787_789delCTTinsATA",
"hgvs_p": "p.Leu263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547661.1",
"strand": true,
"transcript": "ENST00000877602.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "L",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5129,
"cdna_start": 2459,
"cds_end": null,
"cds_length": 1275,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877603.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.787_789delCTTinsATA",
"hgvs_p": "p.Leu263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547662.1",
"strand": true,
"transcript": "ENST00000877603.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "L",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4010,
"cdna_start": 1347,
"cds_end": null,
"cds_length": 1275,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877604.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.787_789delCTTinsATA",
"hgvs_p": "p.Leu263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547663.1",
"strand": true,
"transcript": "ENST00000877604.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "L",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3500,
"cdna_start": 1904,
"cds_end": null,
"cds_length": 1275,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877605.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.787_789delCTTinsATA",
"hgvs_p": "p.Leu263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547664.1",
"strand": true,
"transcript": "ENST00000877605.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "L",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 1414,
"cds_end": null,
"cds_length": 1275,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877607.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.787_789delCTTinsATA",
"hgvs_p": "p.Leu263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547666.1",
"strand": true,
"transcript": "ENST00000877607.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "L",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1825,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1275,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877608.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.787_789delCTTinsATA",
"hgvs_p": "p.Leu263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547667.1",
"strand": true,
"transcript": "ENST00000877608.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "L",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3710,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 1275,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968051.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.787_789delCTTinsATA",
"hgvs_p": "p.Leu263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638110.1",
"strand": true,
"transcript": "ENST00000968051.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "L",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2288,
"cdna_start": 1453,
"cds_end": null,
"cds_length": 1275,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968053.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.787_789delCTTinsATA",
"hgvs_p": "p.Leu263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638112.1",
"strand": true,
"transcript": "ENST00000968053.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 417,
"aa_ref": "L",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": 793,
"cds_end": null,
"cds_length": 1254,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001193528.2",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.766_768delCTTinsATA",
"hgvs_p": "p.Leu256Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180457.1",
"strand": true,
"transcript": "NM_001193528.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 417,
"aa_ref": "L",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1788,
"cdna_start": 778,
"cds_end": null,
"cds_length": 1254,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409673.7",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.766_768delCTTinsATA",
"hgvs_p": "p.Leu256Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387142.3",
"strand": true,
"transcript": "ENST00000409673.7",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 383,
"aa_ref": "L",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1573,
"cdna_start": 762,
"cds_end": null,
"cds_length": 1152,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877606.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.664_666delCTTinsATA",
"hgvs_p": "p.Leu222Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547665.1",
"strand": true,
"transcript": "ENST00000877606.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 353,
"aa_ref": "L",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1506,
"cdna_start": 672,
"cds_end": null,
"cds_length": 1062,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968052.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.574_576delCTTinsATA",
"hgvs_p": "p.Leu192Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638111.1",
"strand": true,
"transcript": "ENST00000968052.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "L",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3380,
"cdna_start": 716,
"cds_end": null,
"cds_length": 1035,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412209.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "c.547_549delCTTinsATA",
"hgvs_p": "p.Leu183Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399138.1",
"strand": true,
"transcript": "NM_001412209.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1141,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000437944.5",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "n.*233_*235delCTTinsATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000400421.1",
"strand": true,
"transcript": "ENST00000437944.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 929,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000490927.5",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "n.703_705delCTTinsATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000490927.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1594,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000548868.5",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "n.*233_*235delCTTinsATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000447307.1",
"strand": true,
"transcript": "ENST00000548868.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 943,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000549848.5",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "n.455_457delCTTinsATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000549848.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1141,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000437944.5",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "n.*233_*235delCTTinsATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000400421.1",
"strand": true,
"transcript": "ENST00000437944.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1594,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000548868.5",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "n.*233_*235delCTTinsATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000447307.1",
"strand": true,
"transcript": "ENST00000548868.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 658,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000475928.1",
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"hgvs_c": "n.161-1558_161-1556delCTTinsATA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000475928.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 30382,
"gene_symbol": "SCRN3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.777,
"pos": 174422917,
"ref": "CTT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001412210.1"
}
]
}