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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: 20-63407135-CA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63407135&ref=CA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 63407135,
"ref": "CA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000359125.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2127delT",
"hgvs_p": "p.Val710fs",
"transcript": "NM_172107.4",
"protein_id": "NP_742105.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 872,
"cds_start": 2127,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 9247,
"mane_select": "ENST00000359125.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2127delT",
"hgvs_p": "p.Val710fs",
"transcript": "ENST00000359125.7",
"protein_id": "ENSP00000352035.2",
"transcript_support_level": 1,
"aa_start": 709,
"aa_end": null,
"aa_length": 872,
"cds_start": 2127,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 9247,
"mane_select": "NM_172107.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2073delT",
"hgvs_p": "p.Val692fs",
"transcript": "ENST00000626839.2",
"protein_id": "ENSP00000486706.1",
"transcript_support_level": 1,
"aa_start": 691,
"aa_end": null,
"aa_length": 854,
"cds_start": 2073,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 9213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2034delT",
"hgvs_p": "p.Val679fs",
"transcript": "ENST00000344462.8",
"protein_id": "ENSP00000339611.4",
"transcript_support_level": 1,
"aa_start": 678,
"aa_end": null,
"aa_length": 841,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2181delT",
"hgvs_p": "p.Val728fs",
"transcript": "NM_001382235.1",
"protein_id": "NP_001369164.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 890,
"cds_start": 2181,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 9301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2181delT",
"hgvs_p": "p.Val728fs",
"transcript": "ENST00000706989.1",
"protein_id": "ENSP00000516702.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 890,
"cds_start": 2181,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 9301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2073delT",
"hgvs_p": "p.Val692fs",
"transcript": "NM_172106.3",
"protein_id": "NP_742104.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 854,
"cds_start": 2073,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2265,
"cdna_end": null,
"cdna_length": 9193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2070delT",
"hgvs_p": "p.Val691fs",
"transcript": "NM_001439003.1",
"protein_id": "NP_001425932.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 853,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2262,
"cdna_end": null,
"cdna_length": 9190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2043delT",
"hgvs_p": "p.Val682fs",
"transcript": "NM_004518.6",
"protein_id": "NP_004509.2",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 844,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 9163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2043delT",
"hgvs_p": "p.Val682fs",
"transcript": "ENST00000360480.7",
"protein_id": "ENSP00000353668.3",
"transcript_support_level": 5,
"aa_start": 681,
"aa_end": null,
"aa_length": 844,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 2085,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2040delT",
"hgvs_p": "p.Val681fs",
"transcript": "NM_001439004.1",
"protein_id": "NP_001425933.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 843,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2232,
"cdna_end": null,
"cdna_length": 9160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2040delT",
"hgvs_p": "p.Val681fs",
"transcript": "ENST00000627221.3",
"protein_id": "ENSP00000487469.2",
"transcript_support_level": 5,
"aa_start": 680,
"aa_end": null,
"aa_length": 843,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2232,
"cdna_end": null,
"cdna_length": 9160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2034delT",
"hgvs_p": "p.Val679fs",
"transcript": "NM_172108.5",
"protein_id": "NP_742106.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 841,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 2226,
"cdna_end": null,
"cdna_length": 9154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2007delT",
"hgvs_p": "p.Val670fs",
"transcript": "ENST00000713605.1",
"protein_id": "ENSP00000518901.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 832,
"cds_start": 2007,
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"cds_length": 2499,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2151delT",
"hgvs_p": "p.Val718fs",
"transcript": "ENST00000370224.5",
"protein_id": "ENSP00000359244.2",
"transcript_support_level": 5,
"aa_start": 717,
"aa_end": null,
"aa_length": 766,
"cds_start": 2151,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2286,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2115delT",
"hgvs_p": "p.Val706fs",
"transcript": "ENST00000625514.2",
"protein_id": "ENSP00000486040.1",
"transcript_support_level": 5,
"aa_start": 705,
"aa_end": null,
"aa_length": 754,
"cds_start": 2115,
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"cdna_start": 2207,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2043delT",
"hgvs_p": "p.Val682fs",
"transcript": "ENST00000629241.2",
"protein_id": "ENSP00000487142.1",
"transcript_support_level": 5,
"aa_start": 681,
"aa_end": null,
"aa_length": 730,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1695delT",
"hgvs_p": "p.Val566fs",
"transcript": "ENST00000357249.6",
"protein_id": "ENSP00000349789.3",
"transcript_support_level": 5,
"aa_start": 565,
"aa_end": null,
"aa_length": 728,
"cds_start": 1695,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1695,
"cdna_end": null,
"cdna_length": 2594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1524delT",
"hgvs_p": "p.Val509fs",
"transcript": "ENST00000637193.1",
"protein_id": "ENSP00000490734.1",
"transcript_support_level": 5,
"aa_start": 508,
"aa_end": null,
"aa_length": 671,
"cds_start": 1524,
"cds_end": null,
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"cdna_start": 1926,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2178delT",
"hgvs_p": "p.Val727fs",
"transcript": "XM_017027841.3",
"protein_id": "XP_016883330.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 889,
"cds_start": 2178,
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"cds_length": 2670,
"cdna_start": 2370,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2151delT",
"hgvs_p": "p.Val718fs",
"transcript": "XM_011528811.3",
"protein_id": "XP_011527113.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 880,
"cds_start": 2151,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 2343,
"cdna_end": null,
"cdna_length": 9271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2148delT",
"hgvs_p": "p.Val717fs",
"transcript": "XM_047440144.1",
"protein_id": "XP_047296100.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 879,
"cds_start": 2148,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 2340,
"cdna_end": null,
"cdna_length": 9268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.2115delT",
"hgvs_p": "p.Val706fs",
"transcript": "XM_017027842.3",
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{
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},
{
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},
{
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],
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{
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"consequences": [
"3_prime_UTR_variant"
],
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{
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],
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},
{
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"consequences": [
"downstream_gene_variant"
],
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"exon_count": 2,
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"gene_symbol": "KCNQ2",
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"hgvs_c": "n.*184delT",
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"transcript": "ENST00000637338.1",
"protein_id": null,
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"cdna_start": null,
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"cdna_length": 100,
"mane_select": null,
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"feature": null
}
],
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"dbsnp": "rs118192244",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.059,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000359125.7",
"gene_symbol": "KCNQ2",
"hgnc_id": 6296,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2127delT",
"hgvs_p": "p.Val710fs"
}
],
"clinvar_disease": " 1, 7, benign familial neonatal,Developmental and epileptic encephalopathy,Seizure,Seizures,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 O:1",
"phenotype_combined": "Seizures, benign familial neonatal, 1|not provided|Developmental and epileptic encephalopathy, 7|Developmental and epileptic encephalopathy|Seizure",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}