← 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: 16-56913301-TC-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56913301&ref=TC&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC12A3",
"hgnc_id": 10912,
"hgvs_c": "c.2989_2990delTCinsCT",
"hgvs_p": "p.Ser997Leu",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_000339.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP2,PP3",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"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": "L",
"aa_end": null,
"aa_length": 1021,
"aa_ref": "S",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5540,
"cdna_start": 2991,
"cds_end": null,
"cds_length": 3066,
"cds_start": 2962,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001126108.2",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2962_2963delTCinsCT",
"hgvs_p": "p.Ser988Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000563236.6",
"protein_coding": true,
"protein_id": "NP_001119580.2",
"strand": true,
"transcript": "NM_001126108.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1021,
"aa_ref": "S",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5540,
"cdna_start": 2991,
"cds_end": null,
"cds_length": 3066,
"cds_start": 2962,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000563236.6",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2962_2963delTCinsCT",
"hgvs_p": "p.Ser988Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001126108.2",
"protein_coding": true,
"protein_id": "ENSP00000456149.2",
"strand": true,
"transcript": "ENST00000563236.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1030,
"aa_ref": "S",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5567,
"cdna_start": 3018,
"cds_end": null,
"cds_length": 3093,
"cds_start": 2989,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000438926.6",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2989_2990delTCinsCT",
"hgvs_p": "p.Ser997Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402152.2",
"strand": true,
"transcript": "ENST00000438926.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "S",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": 3015,
"cds_end": null,
"cds_length": 3090,
"cds_start": 2986,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000566786.5",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2986_2987delTCinsCT",
"hgvs_p": "p.Ser996Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457552.1",
"strand": true,
"transcript": "ENST00000566786.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1084,
"aa_ref": "S",
"aa_start": 1051,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3434,
"cdna_start": 3180,
"cds_end": null,
"cds_length": 3255,
"cds_start": 3151,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898227.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.3151_3152delTCinsCT",
"hgvs_p": "p.Ser1051Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568286.1",
"strand": true,
"transcript": "ENST00000898227.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "S",
"aa_start": 1026,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5652,
"cdna_start": 3103,
"cds_end": null,
"cds_length": 3180,
"cds_start": 3076,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898208.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.3076_3077delTCinsCT",
"hgvs_p": "p.Ser1026Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568267.1",
"strand": true,
"transcript": "ENST00000898208.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1056,
"aa_ref": "S",
"aa_start": 1023,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5645,
"cdna_start": 3096,
"cds_end": null,
"cds_length": 3171,
"cds_start": 3067,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898207.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.3067_3068delTCinsCT",
"hgvs_p": "p.Ser1023Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568266.1",
"strand": true,
"transcript": "ENST00000898207.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1055,
"aa_ref": "S",
"aa_start": 1022,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4315,
"cdna_start": 3092,
"cds_end": null,
"cds_length": 3168,
"cds_start": 3064,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898218.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.3064_3065delTCinsCT",
"hgvs_p": "p.Ser1022Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568277.1",
"strand": true,
"transcript": "ENST00000898218.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1030,
"aa_ref": "S",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5567,
"cdna_start": 3018,
"cds_end": null,
"cds_length": 3093,
"cds_start": 2989,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000339.3",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2989_2990delTCinsCT",
"hgvs_p": "p.Ser997Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000330.3",
"strand": true,
"transcript": "NM_000339.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "S",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5564,
"cdna_start": 3015,
"cds_end": null,
"cds_length": 3090,
"cds_start": 2986,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001126107.2",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2986_2987delTCinsCT",
"hgvs_p": "p.Ser996Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001119579.2",
"strand": true,
"transcript": "NM_001126107.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1026,
"aa_ref": "S",
"aa_start": 993,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4225,
"cdna_start": 3004,
"cds_end": null,
"cds_length": 3081,
"cds_start": 2977,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898221.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2977_2978delTCinsCT",
"hgvs_p": "p.Ser993Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568280.1",
"strand": true,
"transcript": "ENST00000898221.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "S",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5537,
"cdna_start": 2988,
"cds_end": null,
"cds_length": 3063,
"cds_start": 2959,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410896.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2959_2960delTCinsCT",
"hgvs_p": "p.Ser987Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397825.1",
"strand": true,
"transcript": "NM_001410896.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "S",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4208,
"cdna_start": 2984,
"cds_end": null,
"cds_length": 3063,
"cds_start": 2959,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262502.5",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2959_2960delTCinsCT",
"hgvs_p": "p.Ser987Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262502.5",
"strand": true,
"transcript": "ENST00000262502.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1016,
"aa_ref": "S",
"aa_start": 983,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4196,
"cdna_start": 2971,
"cds_end": null,
"cds_length": 3051,
"cds_start": 2947,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898220.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2947_2948delTCinsCT",
"hgvs_p": "p.Ser983Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568279.1",
"strand": true,
"transcript": "ENST00000898220.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1003,
"aa_ref": "S",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3656,
"cdna_start": 2935,
"cds_end": null,
"cds_length": 3012,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898226.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2908_2909delTCinsCT",
"hgvs_p": "p.Ser970Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568285.1",
"strand": true,
"transcript": "ENST00000898226.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 997,
"aa_ref": "S",
"aa_start": 964,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4140,
"cdna_start": 2919,
"cds_end": null,
"cds_length": 2994,
"cds_start": 2890,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898219.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2890_2891delTCinsCT",
"hgvs_p": "p.Ser964Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568278.1",
"strand": true,
"transcript": "ENST00000898219.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 996,
"aa_ref": "S",
"aa_start": 963,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4139,
"cdna_start": 2914,
"cds_end": null,
"cds_length": 2991,
"cds_start": 2887,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898215.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2887_2888delTCinsCT",
"hgvs_p": "p.Ser963Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568274.1",
"strand": true,
"transcript": "ENST00000898215.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 995,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4136,
"cdna_start": 2911,
"cds_end": null,
"cds_length": 2988,
"cds_start": 2884,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898213.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2884_2885delTCinsCT",
"hgvs_p": "p.Ser962Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568272.1",
"strand": true,
"transcript": "ENST00000898213.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 989,
"aa_ref": "S",
"aa_start": 956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4118,
"cdna_start": 2893,
"cds_end": null,
"cds_length": 2970,
"cds_start": 2866,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898214.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2866_2867delTCinsCT",
"hgvs_p": "p.Ser956Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568273.1",
"strand": true,
"transcript": "ENST00000898214.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 988,
"aa_ref": "S",
"aa_start": 955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4115,
"cdna_start": 2890,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2863,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898217.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2863_2864delTCinsCT",
"hgvs_p": "p.Ser955Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568276.1",
"strand": true,
"transcript": "ENST00000898217.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 987,
"aa_ref": "S",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5398,
"cdna_start": 2887,
"cds_end": null,
"cds_length": 2964,
"cds_start": 2860,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898210.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2860_2861delTCinsCT",
"hgvs_p": "p.Ser954Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568269.1",
"strand": true,
"transcript": "ENST00000898210.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 986,
"aa_ref": "S",
"aa_start": 953,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4100,
"cdna_start": 2884,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2857,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898224.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2857_2858delTCinsCT",
"hgvs_p": "p.Ser953Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568283.1",
"strand": true,
"transcript": "ENST00000898224.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 985,
"aa_ref": "S",
"aa_start": 952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5421,
"cdna_start": 2882,
"cds_end": null,
"cds_length": 2958,
"cds_start": 2854,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898209.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2854_2855delTCinsCT",
"hgvs_p": "p.Ser952Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568268.1",
"strand": true,
"transcript": "ENST00000898209.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 969,
"aa_ref": "S",
"aa_start": 936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4054,
"cdna_start": 2833,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2806,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898222.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2806_2807delTCinsCT",
"hgvs_p": "p.Ser936Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568281.1",
"strand": true,
"transcript": "ENST00000898222.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 968,
"aa_ref": "S",
"aa_start": 935,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4055,
"cdna_start": 2830,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2803,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898216.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2803_2804delTCinsCT",
"hgvs_p": "p.Ser935Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568275.1",
"strand": true,
"transcript": "ENST00000898216.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 949,
"aa_ref": "S",
"aa_start": 916,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3987,
"cdna_start": 2773,
"cds_end": null,
"cds_length": 2850,
"cds_start": 2746,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898225.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2746_2747delTCinsCT",
"hgvs_p": "p.Ser916Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568284.1",
"strand": true,
"transcript": "ENST00000898225.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 948,
"aa_ref": "S",
"aa_start": 915,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3991,
"cdna_start": 2770,
"cds_end": null,
"cds_length": 2847,
"cds_start": 2743,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898223.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2743_2744delTCinsCT",
"hgvs_p": "p.Ser915Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568282.1",
"strand": true,
"transcript": "ENST00000898223.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 939,
"aa_ref": "S",
"aa_start": 906,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3969,
"cdna_start": 2744,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2716,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898212.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2716_2717delTCinsCT",
"hgvs_p": "p.Ser906Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568271.1",
"strand": true,
"transcript": "ENST00000898212.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 716,
"aa_ref": "S",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4286,
"cdna_start": 2075,
"cds_end": null,
"cds_length": 2151,
"cds_start": 2047,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898211.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "c.2047_2048delTCinsCT",
"hgvs_p": "p.Ser683Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568270.1",
"strand": true,
"transcript": "ENST00000898211.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 787,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000563352.1",
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"hgvs_c": "n.110_111delTCinsCT",
"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": "ENST00000563352.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 10912,
"gene_symbol": "SLC12A3",
"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": 7.792,
"pos": 56913301,
"ref": "TC",
"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_000339.3"
}
]
}