← 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: 9-135770875-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=135770875&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 135770875,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000371757.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1788C>G",
"hgvs_p": "p.Ile596Met",
"transcript": "NM_020822.3",
"protein_id": "NP_065873.2",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 1235,
"cds_start": 1788,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 7123,
"mane_select": "ENST00000371757.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1788C>G",
"hgvs_p": "p.Ile596Met",
"transcript": "ENST00000371757.7",
"protein_id": "ENSP00000360822.2",
"transcript_support_level": 1,
"aa_start": 596,
"aa_end": null,
"aa_length": 1235,
"cds_start": 1788,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 7123,
"mane_select": "NM_020822.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "n.*1398C>G",
"hgvs_p": null,
"transcript": "ENST00000460750.5",
"protein_id": "ENSP00000418777.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "n.*1398C>G",
"hgvs_p": null,
"transcript": "ENST00000460750.5",
"protein_id": "ENSP00000418777.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1788C>G",
"hgvs_p": "p.Ile596Met",
"transcript": "ENST00000487664.5",
"protein_id": "ENSP00000417851.2",
"transcript_support_level": 5,
"aa_start": 596,
"aa_end": null,
"aa_length": 1256,
"cds_start": 1788,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 3845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1731C>G",
"hgvs_p": "p.Ile577Met",
"transcript": "ENST00000631073.2",
"protein_id": "ENSP00000486130.1",
"transcript_support_level": 5,
"aa_start": 577,
"aa_end": null,
"aa_length": 1237,
"cds_start": 1731,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 1739,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1731C>G",
"hgvs_p": "p.Ile577Met",
"transcript": "ENST00000490355.6",
"protein_id": "ENSP00000418003.3",
"transcript_support_level": 5,
"aa_start": 577,
"aa_end": null,
"aa_length": 1235,
"cds_start": 1731,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1731C>G",
"hgvs_p": "p.Ile577Met",
"transcript": "ENST00000488444.6",
"protein_id": "ENSP00000419007.3",
"transcript_support_level": 5,
"aa_start": 577,
"aa_end": null,
"aa_length": 1230,
"cds_start": 1731,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 3696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1689C>G",
"hgvs_p": "p.Ile563Met",
"transcript": "ENST00000263604.5",
"protein_id": "ENSP00000263604.4",
"transcript_support_level": 5,
"aa_start": 563,
"aa_end": null,
"aa_length": 1223,
"cds_start": 1689,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 1805,
"cdna_end": null,
"cdna_length": 5245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1671C>G",
"hgvs_p": "p.Ile557Met",
"transcript": "ENST00000486577.6",
"protein_id": "ENSP00000417578.3",
"transcript_support_level": 5,
"aa_start": 557,
"aa_end": null,
"aa_length": 1217,
"cds_start": 1671,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1731C>G",
"hgvs_p": "p.Ile577Met",
"transcript": "ENST00000491806.6",
"protein_id": "ENSP00000419086.3",
"transcript_support_level": 5,
"aa_start": 577,
"aa_end": null,
"aa_length": 1216,
"cds_start": 1731,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 3678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1653C>G",
"hgvs_p": "p.Ile551Met",
"transcript": "NM_001272003.2",
"protein_id": "NP_001258932.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 1211,
"cds_start": 1653,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 7051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1653C>G",
"hgvs_p": "p.Ile551Met",
"transcript": "ENST00000628528.2",
"protein_id": "ENSP00000486374.1",
"transcript_support_level": 2,
"aa_start": 551,
"aa_end": null,
"aa_length": 1211,
"cds_start": 1653,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 7057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1629C>G",
"hgvs_p": "p.Ile543Met",
"transcript": "ENST00000674572.1",
"protein_id": "ENSP00000501742.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1203,
"cds_start": 1629,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 1896,
"cdna_end": null,
"cdna_length": 4763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1629C>G",
"hgvs_p": "p.Ile543Met",
"transcript": "ENST00000630792.2",
"protein_id": "ENSP00000486486.1",
"transcript_support_level": 5,
"aa_start": 543,
"aa_end": null,
"aa_length": 1201,
"cds_start": 1629,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1545C>G",
"hgvs_p": "p.Ile515Met",
"transcript": "ENST00000676421.1",
"protein_id": "ENSP00000502322.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1545,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1536C>G",
"hgvs_p": "p.Ile512Met",
"transcript": "ENST00000675399.1",
"protein_id": "ENSP00000501932.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1536,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1536C>G",
"hgvs_p": "p.Ile512Met",
"transcript": "ENST00000675090.1",
"protein_id": "ENSP00000501833.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 1151,
"cds_start": 1536,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1932C>G",
"hgvs_p": "p.Ile644Met",
"transcript": "XM_011518878.4",
"protein_id": "XP_011517180.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 1283,
"cds_start": 1932,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 1932,
"cdna_end": null,
"cdna_length": 7193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1923C>G",
"hgvs_p": "p.Ile641Met",
"transcript": "XM_011518879.4",
"protein_id": "XP_011517181.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1923,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 1923,
"cdna_end": null,
"cdna_length": 7184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1722C>G",
"hgvs_p": "p.Ile574Met",
"transcript": "XM_017014931.2",
"protein_id": "XP_016870420.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 1234,
"cds_start": 1722,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 7061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1689C>G",
"hgvs_p": "p.Ile563Met",
"transcript": "XM_011518880.2",
"protein_id": "XP_011517182.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 1223,
"cds_start": 1689,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 7033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1545C>G",
"hgvs_p": "p.Ile515Met",
"transcript": "XM_017014932.2",
"protein_id": "XP_016870421.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1545,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 6953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1278C>G",
"hgvs_p": "p.Ile426Met",
"transcript": "XM_011518881.4",
"protein_id": "XP_011517183.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1278,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 2749,
"cdna_end": null,
"cdna_length": 8073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1278C>G",
"hgvs_p": "p.Ile426Met",
"transcript": "XM_017014933.2",
"protein_id": "XP_016870422.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1278,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 6780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1278C>G",
"hgvs_p": "p.Ile426Met",
"transcript": "XM_024447617.2",
"protein_id": "XP_024303385.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1278,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 7132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1278C>G",
"hgvs_p": "p.Ile426Met",
"transcript": "XM_024447618.2",
"protein_id": "XP_024303386.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1278,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 6889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "n.1607C>G",
"hgvs_p": null,
"transcript": "ENST00000490363.3",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "n.-239C>G",
"hgvs_p": null,
"transcript": "ENST00000637090.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"dbsnp": "rs373444768",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41325798630714417,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.198,
"revel_prediction": "Benign",
"alphamissense_score": 0.0792,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.331,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000371757.7",
"gene_symbol": "KCNT1",
"hgnc_id": 18865,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1788C>G",
"hgvs_p": "p.Ile596Met"
}
],
"clinvar_disease": " 14,Autosomal dominant nocturnal frontal lobe epilepsy 5,Developmental and epileptic encephalopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Developmental and epileptic encephalopathy, 14;Autosomal dominant nocturnal frontal lobe epilepsy 5",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}