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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-16044572-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16044572&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 16044572,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000085.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "NM_000085.5",
"protein_id": "NP_000076.2",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 687,
"cds_start": 80,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 186,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": "ENST00000375679.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000085.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000375679.9",
"protein_id": "ENSP00000364831.5",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 687,
"cds_start": 80,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 186,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": "NM_000085.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375679.9"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000906263.1",
"protein_id": "ENSP00000576322.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 705,
"cds_start": 80,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906263.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000906270.1",
"protein_id": "ENSP00000576329.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 704,
"cds_start": 80,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906270.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000906271.1",
"protein_id": "ENSP00000576330.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 694,
"cds_start": 80,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 127,
"cdna_end": null,
"cdna_length": 2524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906271.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000906265.1",
"protein_id": "ENSP00000576324.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 693,
"cds_start": 80,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 163,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906265.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000906262.1",
"protein_id": "ENSP00000576321.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 692,
"cds_start": 80,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 177,
"cdna_end": null,
"cdna_length": 2598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906262.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000906261.1",
"protein_id": "ENSP00000576320.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 691,
"cds_start": 80,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906261.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000906268.1",
"protein_id": "ENSP00000576327.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 690,
"cds_start": 80,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906268.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000682338.1",
"protein_id": "ENSP00000507062.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 687,
"cds_start": 80,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682338.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000682793.1",
"protein_id": "ENSP00000506910.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 687,
"cds_start": 80,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 3121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682793.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000684324.1",
"protein_id": "ENSP00000507937.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 687,
"cds_start": 80,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 3331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684324.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000684545.1",
"protein_id": "ENSP00000506733.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 687,
"cds_start": 80,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 2592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684545.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000906275.1",
"protein_id": "ENSP00000576334.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 687,
"cds_start": 80,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 2524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906275.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000683578.1",
"protein_id": "ENSP00000507430.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 686,
"cds_start": 80,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683578.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000906258.1",
"protein_id": "ENSP00000576317.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 686,
"cds_start": 80,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906258.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000906259.1",
"protein_id": "ENSP00000576318.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 686,
"cds_start": 80,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 2692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906259.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000906274.1",
"protein_id": "ENSP00000576333.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 686,
"cds_start": 80,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906274.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000906272.1",
"protein_id": "ENSP00000576331.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 684,
"cds_start": 80,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906272.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000906260.1",
"protein_id": "ENSP00000576319.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 683,
"cds_start": 80,
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"cdna_start": 216,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906260.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000906269.1",
"protein_id": "ENSP00000576328.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 667,
"cds_start": 80,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906269.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "ENST00000906266.1",
"protein_id": "ENSP00000576325.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 666,
"cds_start": 80,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906266.1"
},
{
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{
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{
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],
"gene_symbol": "CLCNKB",
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"dbsnp": "rs2015352",
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"hom_count_reference_population": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49897098541259766,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.566,
"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.008,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000085.5",
"gene_symbol": "CLCNKB",
"hgnc_id": 2027,
"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Arg27Pro"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}