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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: 20-63407232-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63407232&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 63407232,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000359125.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2031G>A",
"hgvs_p": "p.Arg677Arg",
"transcript": "NM_172107.4",
"protein_id": "NP_742105.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 872,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2223,
"cdna_end": null,
"cdna_length": 9247,
"mane_select": "ENST00000359125.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2031G>A",
"hgvs_p": "p.Arg677Arg",
"transcript": "ENST00000359125.7",
"protein_id": "ENSP00000352035.2",
"transcript_support_level": 1,
"aa_start": 677,
"aa_end": null,
"aa_length": 872,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2223,
"cdna_end": null,
"cdna_length": 9247,
"mane_select": "NM_172107.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1977G>A",
"hgvs_p": "p.Arg659Arg",
"transcript": "ENST00000626839.2",
"protein_id": "ENSP00000486706.1",
"transcript_support_level": 1,
"aa_start": 659,
"aa_end": null,
"aa_length": 854,
"cds_start": 1977,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 9213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1938G>A",
"hgvs_p": "p.Arg646Arg",
"transcript": "ENST00000344462.8",
"protein_id": "ENSP00000339611.4",
"transcript_support_level": 1,
"aa_start": 646,
"aa_end": null,
"aa_length": 841,
"cds_start": 1938,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2085G>A",
"hgvs_p": "p.Arg695Arg",
"transcript": "NM_001382235.1",
"protein_id": "NP_001369164.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 890,
"cds_start": 2085,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2277,
"cdna_end": null,
"cdna_length": 9301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2085G>A",
"hgvs_p": "p.Arg695Arg",
"transcript": "ENST00000706989.1",
"protein_id": "ENSP00000516702.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 890,
"cds_start": 2085,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2277,
"cdna_end": null,
"cdna_length": 9301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1977G>A",
"hgvs_p": "p.Arg659Arg",
"transcript": "NM_172106.3",
"protein_id": "NP_742104.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 854,
"cds_start": 1977,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 9193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1974G>A",
"hgvs_p": "p.Arg658Arg",
"transcript": "NM_001439003.1",
"protein_id": "NP_001425932.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 853,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 9190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1947G>A",
"hgvs_p": "p.Arg649Arg",
"transcript": "NM_004518.6",
"protein_id": "NP_004509.2",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 844,
"cds_start": 1947,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 9163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1947G>A",
"hgvs_p": "p.Arg649Arg",
"transcript": "ENST00000360480.7",
"protein_id": "ENSP00000353668.3",
"transcript_support_level": 5,
"aa_start": 649,
"aa_end": null,
"aa_length": 844,
"cds_start": 1947,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1989,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1944G>A",
"hgvs_p": "p.Arg648Arg",
"transcript": "NM_001439004.1",
"protein_id": "NP_001425933.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 843,
"cds_start": 1944,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 9160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1944G>A",
"hgvs_p": "p.Arg648Arg",
"transcript": "ENST00000627221.3",
"protein_id": "ENSP00000487469.2",
"transcript_support_level": 5,
"aa_start": 648,
"aa_end": null,
"aa_length": 843,
"cds_start": 1944,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 9160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1938G>A",
"hgvs_p": "p.Arg646Arg",
"transcript": "NM_172108.5",
"protein_id": "NP_742106.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 841,
"cds_start": 1938,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 9154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1911G>A",
"hgvs_p": "p.Arg637Arg",
"transcript": "ENST00000713605.1",
"protein_id": "ENSP00000518901.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 832,
"cds_start": 1911,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2103,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2055G>A",
"hgvs_p": "p.Arg685Arg",
"transcript": "ENST00000370224.5",
"protein_id": "ENSP00000359244.2",
"transcript_support_level": 5,
"aa_start": 685,
"aa_end": null,
"aa_length": 766,
"cds_start": 2055,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2019G>A",
"hgvs_p": "p.Arg673Arg",
"transcript": "ENST00000625514.2",
"protein_id": "ENSP00000486040.1",
"transcript_support_level": 5,
"aa_start": 673,
"aa_end": null,
"aa_length": 754,
"cds_start": 2019,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 2925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1947G>A",
"hgvs_p": "p.Arg649Arg",
"transcript": "ENST00000629241.2",
"protein_id": "ENSP00000487142.1",
"transcript_support_level": 5,
"aa_start": 649,
"aa_end": null,
"aa_length": 730,
"cds_start": 1947,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2039,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1599G>A",
"hgvs_p": "p.Arg533Arg",
"transcript": "ENST00000357249.6",
"protein_id": "ENSP00000349789.3",
"transcript_support_level": 5,
"aa_start": 533,
"aa_end": null,
"aa_length": 728,
"cds_start": 1599,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 2594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1428G>A",
"hgvs_p": "p.Arg476Arg",
"transcript": "ENST00000637193.1",
"protein_id": "ENSP00000490734.1",
"transcript_support_level": 5,
"aa_start": 476,
"aa_end": null,
"aa_length": 671,
"cds_start": 1428,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2082G>A",
"hgvs_p": "p.Arg694Arg",
"transcript": "XM_017027841.3",
"protein_id": "XP_016883330.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 889,
"cds_start": 2082,
"cds_end": null,
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"cdna_start": 2274,
"cdna_end": null,
"cdna_length": 9298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2055G>A",
"hgvs_p": "p.Arg685Arg",
"transcript": "XM_011528811.3",
"protein_id": "XP_011527113.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 880,
"cds_start": 2055,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 2247,
"cdna_end": null,
"cdna_length": 9271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2052G>A",
"hgvs_p": "p.Arg684Arg",
"transcript": "XM_047440144.1",
"protein_id": "XP_047296100.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 879,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 2244,
"cdna_end": null,
"cdna_length": 9268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2019G>A",
"hgvs_p": "p.Arg673Arg",
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"aa_start": 673,
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},
{
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"protein_coding": true,
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": 7,
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"gene_symbol": "KCNQ2",
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"hgvs_c": "c.1047G>A",
"hgvs_p": "p.Arg349Arg",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
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"exon_count": 18,
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"gene_symbol": "KCNQ2",
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"hgvs_c": "n.*811G>A",
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"transcript": "ENST00000637632.2",
"protein_id": "ENSP00000518917.1",
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 18,
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"gene_symbol": "KCNQ2",
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},
{
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"consequences": [
"intron_variant"
],
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"exon_count": 14,
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"gene_symbol": "KCNQ2",
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"hgvs_c": "c.1679+6218G>A",
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"transcript": "ENST00000629676.2",
"protein_id": "ENSP00000486194.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"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.*88G>A",
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"transcript": "ENST00000637338.1",
"protein_id": null,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 100,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"dbsnp": "rs35647984",
"frequency_reference_population": 0.0037823229,
"hom_count_reference_population": 27,
"allele_count_reference_population": 6065,
"gnomad_exomes_af": 0.00372464,
"gnomad_genomes_af": 0.00433168,
"gnomad_exomes_ac": 5405,
"gnomad_genomes_ac": 660,
"gnomad_exomes_homalt": 21,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.513,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000359125.7",
"gene_symbol": "KCNQ2",
"hgnc_id": 6296,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2031G>A",
"hgvs_p": "p.Arg677Arg"
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:5",
"phenotype_combined": "not specified|Developmental and epileptic encephalopathy|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}