← 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: 9-135786444-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=135786444&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KCNT1",
"hgnc_id": 18865,
"hgvs_c": "c.3425G>T",
"hgvs_p": "p.Arg1142Leu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_020822.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.2265,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6771711707115173,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "R",
"aa_start": 1142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7123,
"cdna_start": 3499,
"cds_end": null,
"cds_length": 3708,
"cds_start": 3425,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_020822.3",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3425G>T",
"hgvs_p": "p.Arg1142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371757.7",
"protein_coding": true,
"protein_id": "NP_065873.2",
"strand": true,
"transcript": "NM_020822.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "R",
"aa_start": 1142,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7123,
"cdna_start": 3499,
"cds_end": null,
"cds_length": 3708,
"cds_start": 3425,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000371757.7",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3425G>T",
"hgvs_p": "p.Arg1142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020822.3",
"protein_coding": true,
"protein_id": "ENSP00000360822.2",
"strand": true,
"transcript": "ENST00000371757.7",
"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": 4738,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000460750.5",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "n.*3035G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000418777.1",
"strand": true,
"transcript": "ENST00000460750.5",
"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": 4738,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000460750.5",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "n.*3035G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000418777.1",
"strand": true,
"transcript": "ENST00000460750.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "R",
"aa_start": 1142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3845,
"cdna_start": 3499,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3425,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000487664.5",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3425G>T",
"hgvs_p": "p.Arg1142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417851.2",
"strand": true,
"transcript": "ENST00000487664.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1237,
"aa_ref": "R",
"aa_start": 1123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3948,
"cdna_start": 3376,
"cds_end": null,
"cds_length": 3714,
"cds_start": 3368,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000631073.2",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3368G>T",
"hgvs_p": "p.Arg1123Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486130.1",
"strand": true,
"transcript": "ENST00000631073.2",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "R",
"aa_start": 1121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3708,
"cdna_start": 3362,
"cds_end": null,
"cds_length": 3708,
"cds_start": 3362,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000490355.6",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3362G>T",
"hgvs_p": "p.Arg1121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418003.3",
"strand": true,
"transcript": "ENST00000490355.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1230,
"aa_ref": "R",
"aa_start": 1116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3696,
"cdna_start": 3350,
"cds_end": null,
"cds_length": 3693,
"cds_start": 3347,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000488444.6",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3347G>T",
"hgvs_p": "p.Arg1116Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419007.3",
"strand": true,
"transcript": "ENST00000488444.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "R",
"aa_start": 1109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5245,
"cdna_start": 3442,
"cds_end": null,
"cds_length": 3672,
"cds_start": 3326,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000263604.5",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3326G>T",
"hgvs_p": "p.Arg1109Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000263604.4",
"strand": true,
"transcript": "ENST00000263604.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "R",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3760,
"cdna_start": 3414,
"cds_end": null,
"cds_length": 3654,
"cds_start": 3308,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000486577.6",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3308G>T",
"hgvs_p": "p.Arg1103Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417578.3",
"strand": true,
"transcript": "ENST00000486577.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1216,
"aa_ref": "R",
"aa_start": 1123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3678,
"cdna_start": 3386,
"cds_end": null,
"cds_length": 3651,
"cds_start": 3368,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000491806.6",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3368G>T",
"hgvs_p": "p.Arg1123Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419086.3",
"strand": true,
"transcript": "ENST00000491806.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "R",
"aa_start": 1097,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7051,
"cdna_start": 3364,
"cds_end": null,
"cds_length": 3636,
"cds_start": 3290,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001272003.2",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3290G>T",
"hgvs_p": "p.Arg1097Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258932.1",
"strand": true,
"transcript": "NM_001272003.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "R",
"aa_start": 1097,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7057,
"cdna_start": 3364,
"cds_end": null,
"cds_length": 3636,
"cds_start": 3290,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000628528.2",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3290G>T",
"hgvs_p": "p.Arg1097Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486374.1",
"strand": true,
"transcript": "ENST00000628528.2",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "R",
"aa_start": 1094,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4688,
"cdna_start": 3355,
"cds_end": null,
"cds_length": 3627,
"cds_start": 3281,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000968545.1",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3281G>T",
"hgvs_p": "p.Arg1094Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638604.1",
"strand": true,
"transcript": "ENST00000968545.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1203,
"aa_ref": "R",
"aa_start": 1089,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4763,
"cdna_start": 3533,
"cds_end": null,
"cds_length": 3612,
"cds_start": 3266,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000674572.1",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3266G>T",
"hgvs_p": "p.Arg1089Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501742.1",
"strand": true,
"transcript": "ENST00000674572.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1201,
"aa_ref": "R",
"aa_start": 1087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3606,
"cdna_start": 3260,
"cds_end": null,
"cds_length": 3606,
"cds_start": 3260,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000630792.2",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3260G>T",
"hgvs_p": "p.Arg1087Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486486.1",
"strand": true,
"transcript": "ENST00000630792.2",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "R",
"aa_start": 1061,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4598,
"cdna_start": 3266,
"cds_end": null,
"cds_length": 3528,
"cds_start": 3182,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000676421.1",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3182G>T",
"hgvs_p": "p.Arg1061Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502322.1",
"strand": true,
"transcript": "ENST00000676421.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "R",
"aa_start": 1058,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": 3263,
"cds_end": null,
"cds_length": 3519,
"cds_start": 3173,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000675399.1",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3173G>T",
"hgvs_p": "p.Arg1058Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501932.1",
"strand": true,
"transcript": "ENST00000675399.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "R",
"aa_start": 1058,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4442,
"cdna_start": 3275,
"cds_end": null,
"cds_length": 3456,
"cds_start": 3173,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000675090.1",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3173G>T",
"hgvs_p": "p.Arg1058Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501833.1",
"strand": true,
"transcript": "ENST00000675090.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1283,
"aa_ref": "R",
"aa_start": 1190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7193,
"cdna_start": 3569,
"cds_end": null,
"cds_length": 3852,
"cds_start": 3569,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_011518878.4",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3569G>T",
"hgvs_p": "p.Arg1190Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517180.1",
"strand": true,
"transcript": "XM_011518878.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1280,
"aa_ref": "R",
"aa_start": 1187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7184,
"cdna_start": 3560,
"cds_end": null,
"cds_length": 3843,
"cds_start": 3560,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_011518879.4",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3560G>T",
"hgvs_p": "p.Arg1187Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517181.1",
"strand": true,
"transcript": "XM_011518879.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1234,
"aa_ref": "R",
"aa_start": 1120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7061,
"cdna_start": 3374,
"cds_end": null,
"cds_length": 3705,
"cds_start": 3359,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_017014931.2",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3359G>T",
"hgvs_p": "p.Arg1120Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870420.1",
"strand": true,
"transcript": "XM_017014931.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "R",
"aa_start": 1109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7033,
"cdna_start": 3346,
"cds_end": null,
"cds_length": 3672,
"cds_start": 3326,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_011518880.2",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3326G>T",
"hgvs_p": "p.Arg1109Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517182.1",
"strand": true,
"transcript": "XM_011518880.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "R",
"aa_start": 1061,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6953,
"cdna_start": 3266,
"cds_end": null,
"cds_length": 3528,
"cds_start": 3182,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_017014932.2",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3182G>T",
"hgvs_p": "p.Arg1061Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870421.1",
"strand": true,
"transcript": "XM_017014932.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "R",
"aa_start": 972,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8073,
"cdna_start": 4386,
"cds_end": null,
"cds_length": 3261,
"cds_start": 2915,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_011518881.4",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.2915G>T",
"hgvs_p": "p.Arg972Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517183.1",
"strand": true,
"transcript": "XM_011518881.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "R",
"aa_start": 972,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6780,
"cdna_start": 3093,
"cds_end": null,
"cds_length": 3261,
"cds_start": 2915,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_017014933.2",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.2915G>T",
"hgvs_p": "p.Arg972Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870422.1",
"strand": true,
"transcript": "XM_017014933.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "R",
"aa_start": 972,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7132,
"cdna_start": 3445,
"cds_end": null,
"cds_length": 3261,
"cds_start": 2915,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_024447617.2",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.2915G>T",
"hgvs_p": "p.Arg972Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303385.1",
"strand": true,
"transcript": "XM_024447617.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "R",
"aa_start": 972,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6889,
"cdna_start": 3202,
"cds_end": null,
"cds_length": 3261,
"cds_start": 2915,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_024447618.2",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.2915G>T",
"hgvs_p": "p.Arg972Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303386.1",
"strand": true,
"transcript": "XM_024447618.2",
"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": 4065,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000490363.3",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "n.*45G>T",
"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": "ENST00000490363.3",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs773520283",
"effect": "missense_variant",
"frequency_reference_population": 0.0000013838685,
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000138387,
"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": 1.567,
"pos": 135786444,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.166,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_020822.3"
}
]
}