← 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: 3-184353275-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184353275&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CLCN2",
"hgnc_id": 2020,
"hgvs_c": "c.2003C>A",
"hgvs_p": "p.Thr668Asn",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_004366.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0796,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07021304965019226,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 898,
"aa_ref": "T",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3244,
"cdna_start": 2129,
"cds_end": null,
"cds_length": 2697,
"cds_start": 2003,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_004366.6",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.2003C>A",
"hgvs_p": "p.Thr668Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265593.9",
"protein_coding": true,
"protein_id": "NP_004357.3",
"strand": false,
"transcript": "NM_004366.6",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 898,
"aa_ref": "T",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3244,
"cdna_start": 2129,
"cds_end": null,
"cds_length": 2697,
"cds_start": 2003,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000265593.9",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.2003C>A",
"hgvs_p": "p.Thr668Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004366.6",
"protein_coding": true,
"protein_id": "ENSP00000265593.4",
"strand": false,
"transcript": "ENST00000265593.9",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 881,
"aa_ref": "T",
"aa_start": 651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3187,
"cdna_start": 2075,
"cds_end": null,
"cds_length": 2646,
"cds_start": 1952,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000344937.11",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.1952C>A",
"hgvs_p": "p.Thr651Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345056.7",
"strand": false,
"transcript": "ENST00000344937.11",
"transcript_support_level": 1
},
{
"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": 1844,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000430397.5",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "n.*469C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000396231.1",
"strand": false,
"transcript": "ENST00000430397.5",
"transcript_support_level": 1
},
{
"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": 1844,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000430397.5",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "n.*469C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000396231.1",
"strand": false,
"transcript": "ENST00000430397.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 937,
"aa_ref": "T",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5030,
"cdna_start": 3915,
"cds_end": null,
"cds_length": 2814,
"cds_start": 2120,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000938001.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.2120C>A",
"hgvs_p": "p.Thr707Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608060.1",
"strand": false,
"transcript": "ENST00000938001.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 897,
"aa_ref": "T",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3238,
"cdna_start": 2129,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2003,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000881270.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.2003C>A",
"hgvs_p": "p.Thr668Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551329.1",
"strand": false,
"transcript": "ENST00000881270.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 896,
"aa_ref": "T",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 2097,
"cds_end": null,
"cds_length": 2691,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000881273.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.1997C>A",
"hgvs_p": "p.Thr666Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551332.1",
"strand": false,
"transcript": "ENST00000881273.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 884,
"aa_ref": "T",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3212,
"cdna_start": 2124,
"cds_end": null,
"cds_length": 2655,
"cds_start": 1961,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000881268.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.1961C>A",
"hgvs_p": "p.Thr654Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551327.1",
"strand": false,
"transcript": "ENST00000881268.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 881,
"aa_ref": "T",
"aa_start": 651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3193,
"cdna_start": 2078,
"cds_end": null,
"cds_length": 2646,
"cds_start": 1952,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001171087.3",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.1952C>A",
"hgvs_p": "p.Thr651Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164558.1",
"strand": false,
"transcript": "NM_001171087.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 880,
"aa_ref": "T",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": 2128,
"cds_end": null,
"cds_length": 2643,
"cds_start": 2003,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000962393.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.2003C>A",
"hgvs_p": "p.Thr668Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632452.1",
"strand": false,
"transcript": "ENST00000962393.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 872,
"aa_ref": "T",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3199,
"cdna_start": 2094,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1925,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000962392.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.1925C>A",
"hgvs_p": "p.Thr642Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632451.1",
"strand": false,
"transcript": "ENST00000962392.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 869,
"aa_ref": "T",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3157,
"cdna_start": 2129,
"cds_end": null,
"cds_length": 2610,
"cds_start": 2003,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001171089.3",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.2003C>A",
"hgvs_p": "p.Thr668Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164560.1",
"strand": false,
"transcript": "NM_001171089.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 869,
"aa_ref": "T",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": 2127,
"cds_end": null,
"cds_length": 2610,
"cds_start": 2003,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000457512.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.2003C>A",
"hgvs_p": "p.Thr668Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391928.1",
"strand": false,
"transcript": "ENST00000457512.1",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 867,
"aa_ref": "T",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3148,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 2604,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000881271.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.1910C>A",
"hgvs_p": "p.Thr637Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551330.1",
"strand": false,
"transcript": "ENST00000881271.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 863,
"aa_ref": "T",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": 2170,
"cds_end": null,
"cds_length": 2592,
"cds_start": 2003,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000881267.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.2003C>A",
"hgvs_p": "p.Thr668Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551326.1",
"strand": false,
"transcript": "ENST00000881267.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 854,
"aa_ref": "T",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3112,
"cdna_start": 1997,
"cds_end": null,
"cds_length": 2565,
"cds_start": 1871,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001171088.3",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.1871C>A",
"hgvs_p": "p.Thr624Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164559.1",
"strand": false,
"transcript": "NM_001171088.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 854,
"aa_ref": "T",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 1995,
"cds_end": null,
"cds_length": 2565,
"cds_start": 1871,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000434054.6",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.1871C>A",
"hgvs_p": "p.Thr624Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400425.2",
"strand": false,
"transcript": "ENST00000434054.6",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 850,
"aa_ref": "T",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3144,
"cdna_start": 2175,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2003,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000962391.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.2003C>A",
"hgvs_p": "p.Thr668Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632450.1",
"strand": false,
"transcript": "ENST00000962391.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 845,
"aa_ref": "T",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3085,
"cdna_start": 1970,
"cds_end": null,
"cds_length": 2538,
"cds_start": 1844,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000881269.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Thr615Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551328.1",
"strand": false,
"transcript": "ENST00000881269.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 834,
"aa_ref": "T",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3012,
"cdna_start": 2101,
"cds_end": null,
"cds_length": 2505,
"cds_start": 2003,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000881272.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.2003C>A",
"hgvs_p": "p.Thr668Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551331.1",
"strand": false,
"transcript": "ENST00000881272.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 863,
"aa_ref": "T",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3139,
"cdna_start": 2129,
"cds_end": null,
"cds_length": 2592,
"cds_start": 2003,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_006713489.2",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.2003C>A",
"hgvs_p": "p.Thr668Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713552.1",
"strand": false,
"transcript": "XM_006713489.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 835,
"aa_ref": "T",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6968,
"cdna_start": 2129,
"cds_end": null,
"cds_length": 2508,
"cds_start": 2003,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_011512401.2",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.2003C>A",
"hgvs_p": "p.Thr668Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510703.1",
"strand": false,
"transcript": "XM_011512401.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 557,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000491162.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "n.22C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000491162.1",
"transcript_support_level": 4
},
{
"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": 3019,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000636180.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "n.*901C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490374.1",
"strand": false,
"transcript": "ENST00000636180.1",
"transcript_support_level": 5
},
{
"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": 4378,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000636661.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "n.*2313C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490764.1",
"strand": false,
"transcript": "ENST00000636661.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 626,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000637258.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "n.421C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000637258.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4615,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000637392.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "n.3545C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000637392.1",
"transcript_support_level": 5
},
{
"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": 1545,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000637538.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "n.*469C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490682.1",
"strand": false,
"transcript": "ENST00000637538.1",
"transcript_support_level": 5
},
{
"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": 2910,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000637909.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "n.*892C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490570.1",
"strand": false,
"transcript": "ENST00000637909.1",
"transcript_support_level": 5
},
{
"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": 3019,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000636180.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "n.*901C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490374.1",
"strand": false,
"transcript": "ENST00000636180.1",
"transcript_support_level": 5
},
{
"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": 4378,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000636661.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "n.*2313C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490764.1",
"strand": false,
"transcript": "ENST00000636661.1",
"transcript_support_level": 5
},
{
"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": 1545,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000637538.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "n.*469C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490682.1",
"strand": false,
"transcript": "ENST00000637538.1",
"transcript_support_level": 5
},
{
"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": 2910,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000637909.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "n.*892C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490570.1",
"strand": false,
"transcript": "ENST00000637909.1",
"transcript_support_level": 5
},
{
"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": 2010,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636241.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "n.*708C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490299.1",
"strand": true,
"transcript": "ENST00000636241.1",
"transcript_support_level": 5
},
{
"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": 2118,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638134.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "n.*1379C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490659.1",
"strand": true,
"transcript": "ENST00000638134.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs9820367",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136829,
"gnomad_exomes_homalt": 0,
"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": "Benign",
"phylop100way_score": 1.487,
"pos": 184353275,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.159,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_004366.6"
}
]
}