← 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: 20-63424186-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63424186&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "20",
      "pos": 63424186,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000359125.7",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1238C>T",
          "hgvs_p": "p.Pro413Leu",
          "transcript": "NM_172107.4",
          "protein_id": "NP_742105.1",
          "transcript_support_level": null,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 872,
          "cds_start": 1238,
          "cds_end": null,
          "cds_length": 2619,
          "cdna_start": 1430,
          "cdna_end": null,
          "cdna_length": 9247,
          "mane_select": "ENST00000359125.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1238C>T",
          "hgvs_p": "p.Pro413Leu",
          "transcript": "ENST00000359125.7",
          "protein_id": "ENSP00000352035.2",
          "transcript_support_level": 1,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 872,
          "cds_start": 1238,
          "cds_end": null,
          "cds_length": 2619,
          "cdna_start": 1430,
          "cdna_end": null,
          "cdna_length": 9247,
          "mane_select": "NM_172107.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1238C>T",
          "hgvs_p": "p.Pro413Leu",
          "transcript": "ENST00000626839.2",
          "protein_id": "ENSP00000486706.1",
          "transcript_support_level": 1,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 854,
          "cds_start": 1238,
          "cds_end": null,
          "cds_length": 2565,
          "cdna_start": 1452,
          "cdna_end": null,
          "cdna_length": 9213,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1238C>T",
          "hgvs_p": "p.Pro413Leu",
          "transcript": "ENST00000344462.8",
          "protein_id": "ENSP00000339611.4",
          "transcript_support_level": 1,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 841,
          "cds_start": 1238,
          "cds_end": null,
          "cds_length": 2526,
          "cdna_start": 1284,
          "cdna_end": null,
          "cdna_length": 2750,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1238C>T",
          "hgvs_p": "p.Pro413Leu",
          "transcript": "NM_001382235.1",
          "protein_id": "NP_001369164.1",
          "transcript_support_level": null,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 890,
          "cds_start": 1238,
          "cds_end": null,
          "cds_length": 2673,
          "cdna_start": 1430,
          "cdna_end": null,
          "cdna_length": 9301,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1238C>T",
          "hgvs_p": "p.Pro413Leu",
          "transcript": "ENST00000706989.1",
          "protein_id": "ENSP00000516702.1",
          "transcript_support_level": null,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 890,
          "cds_start": 1238,
          "cds_end": null,
          "cds_length": 2673,
          "cdna_start": 1430,
          "cdna_end": null,
          "cdna_length": 9301,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1238C>T",
          "hgvs_p": "p.Pro413Leu",
          "transcript": "NM_172106.3",
          "protein_id": "NP_742104.1",
          "transcript_support_level": null,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 854,
          "cds_start": 1238,
          "cds_end": null,
          "cds_length": 2565,
          "cdna_start": 1430,
          "cdna_end": null,
          "cdna_length": 9193,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1238C>T",
          "hgvs_p": "p.Pro413Leu",
          "transcript": "NM_001439003.1",
          "protein_id": "NP_001425932.1",
          "transcript_support_level": null,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 853,
          "cds_start": 1238,
          "cds_end": null,
          "cds_length": 2562,
          "cdna_start": 1430,
          "cdna_end": null,
          "cdna_length": 9190,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1208C>T",
          "hgvs_p": "p.Pro403Leu",
          "transcript": "NM_004518.6",
          "protein_id": "NP_004509.2",
          "transcript_support_level": null,
          "aa_start": 403,
          "aa_end": null,
          "aa_length": 844,
          "cds_start": 1208,
          "cds_end": null,
          "cds_length": 2535,
          "cdna_start": 1400,
          "cdna_end": null,
          "cdna_length": 9163,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1208C>T",
          "hgvs_p": "p.Pro403Leu",
          "transcript": "ENST00000360480.7",
          "protein_id": "ENSP00000353668.3",
          "transcript_support_level": 5,
          "aa_start": 403,
          "aa_end": null,
          "aa_length": 844,
          "cds_start": 1208,
          "cds_end": null,
          "cds_length": 2535,
          "cdna_start": 1250,
          "cdna_end": null,
          "cdna_length": 2775,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1208C>T",
          "hgvs_p": "p.Pro403Leu",
          "transcript": "NM_001439004.1",
          "protein_id": "NP_001425933.1",
          "transcript_support_level": null,
          "aa_start": 403,
          "aa_end": null,
          "aa_length": 843,
          "cds_start": 1208,
          "cds_end": null,
          "cds_length": 2532,
          "cdna_start": 1400,
          "cdna_end": null,
          "cdna_length": 9160,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1208C>T",
          "hgvs_p": "p.Pro403Leu",
          "transcript": "ENST00000627221.3",
          "protein_id": "ENSP00000487469.2",
          "transcript_support_level": 5,
          "aa_start": 403,
          "aa_end": null,
          "aa_length": 843,
          "cds_start": 1208,
          "cds_end": null,
          "cds_length": 2532,
          "cdna_start": 1400,
          "cdna_end": null,
          "cdna_length": 9160,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1238C>T",
          "hgvs_p": "p.Pro413Leu",
          "transcript": "NM_172108.5",
          "protein_id": "NP_742106.1",
          "transcript_support_level": null,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 841,
          "cds_start": 1238,
          "cds_end": null,
          "cds_length": 2526,
          "cdna_start": 1430,
          "cdna_end": null,
          "cdna_length": 9154,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1208C>T",
          "hgvs_p": "p.Pro403Leu",
          "transcript": "ENST00000713605.1",
          "protein_id": "ENSP00000518901.1",
          "transcript_support_level": null,
          "aa_start": 403,
          "aa_end": null,
          "aa_length": 832,
          "cds_start": 1208,
          "cds_end": null,
          "cds_length": 2499,
          "cdna_start": 1400,
          "cdna_end": null,
          "cdna_length": 3296,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1208C>T",
          "hgvs_p": "p.Pro403Leu",
          "transcript": "ENST00000370224.5",
          "protein_id": "ENSP00000359244.2",
          "transcript_support_level": 5,
          "aa_start": 403,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1208,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 1343,
          "cdna_end": null,
          "cdna_length": 3004,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1208C>T",
          "hgvs_p": "p.Pro403Leu",
          "transcript": "ENST00000625514.2",
          "protein_id": "ENSP00000486040.1",
          "transcript_support_level": 5,
          "aa_start": 403,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1208,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": 1300,
          "cdna_end": null,
          "cdna_length": 2925,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1208C>T",
          "hgvs_p": "p.Pro403Leu",
          "transcript": "ENST00000629241.2",
          "protein_id": "ENSP00000487142.1",
          "transcript_support_level": 5,
          "aa_start": 403,
          "aa_end": null,
          "aa_length": 730,
          "cds_start": 1208,
          "cds_end": null,
          "cds_length": 2193,
          "cdna_start": 1300,
          "cdna_end": null,
          "cdna_length": 2853,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.896C>T",
          "hgvs_p": "p.Pro299Leu",
          "transcript": "ENST00000357249.6",
          "protein_id": "ENSP00000349789.3",
          "transcript_support_level": 5,
          "aa_start": 299,
          "aa_end": null,
          "aa_length": 728,
          "cds_start": 896,
          "cds_end": null,
          "cds_length": 2187,
          "cdna_start": 896,
          "cdna_end": null,
          "cdna_length": 2594,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.689C>T",
          "hgvs_p": "p.Pro230Leu",
          "transcript": "ENST00000637193.1",
          "protein_id": "ENSP00000490734.1",
          "transcript_support_level": 5,
          "aa_start": 230,
          "aa_end": null,
          "aa_length": 671,
          "cds_start": 689,
          "cds_end": null,
          "cds_length": 2016,
          "cdna_start": 1091,
          "cdna_end": null,
          "cdna_length": 2983,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1208C>T",
          "hgvs_p": "p.Pro403Leu",
          "transcript": "ENST00000629676.2",
          "protein_id": "ENSP00000486194.1",
          "transcript_support_level": 5,
          "aa_start": 403,
          "aa_end": null,
          "aa_length": 645,
          "cds_start": 1208,
          "cds_end": null,
          "cds_length": 1938,
          "cdna_start": 1300,
          "cdna_end": null,
          "cdna_length": 2399,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.689C>T",
          "hgvs_p": "p.Pro230Leu",
          "transcript": "ENST00000629318.2",
          "protein_id": "ENSP00000487384.2",
          "transcript_support_level": 4,
          "aa_start": 230,
          "aa_end": null,
          "aa_length": 442,
          "cds_start": 689,
          "cds_end": null,
          "cds_length": 1329,
          "cdna_start": 1020,
          "cdna_end": null,
          "cdna_length": 1665,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1238C>T",
          "hgvs_p": "p.Pro413Leu",
          "transcript": "XM_017027841.3",
          "protein_id": "XP_016883330.1",
          "transcript_support_level": null,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 889,
          "cds_start": 1238,
          "cds_end": null,
          "cds_length": 2670,
          "cdna_start": 1430,
          "cdna_end": null,
          "cdna_length": 9298,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1208C>T",
          "hgvs_p": "p.Pro403Leu",
          "transcript": "XM_011528811.3",
          "protein_id": "XP_011527113.1",
          "transcript_support_level": null,
          "aa_start": 403,
          "aa_end": null,
          "aa_length": 880,
          "cds_start": 1208,
          "cds_end": null,
          "cds_length": 2643,
          "cdna_start": 1400,
          "cdna_end": null,
          "cdna_length": 9271,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1208C>T",
          "hgvs_p": "p.Pro403Leu",
          "transcript": "XM_047440144.1",
          "protein_id": "XP_047296100.1",
          "transcript_support_level": null,
          "aa_start": 403,
          "aa_end": null,
          "aa_length": 879,
          "cds_start": 1208,
          "cds_end": null,
          "cds_length": 2640,
          "cdna_start": 1400,
          "cdna_end": null,
          "cdna_length": 9268,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1238C>T",
          "hgvs_p": "p.Pro413Leu",
          "transcript": "XM_017027842.3",
          "protein_id": "XP_016883331.1",
          "transcript_support_level": null,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 868,
          "cds_start": 1238,
          "cds_end": null,
          "cds_length": 2607,
          "cdna_start": 1430,
          "cdna_end": null,
          "cdna_length": 9235,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "c.1169C>T",
          "hgvs_p": "p.Pro390Leu",
          "transcript": "XM_017027843.2",
          "protein_id": "XP_016883332.1",
          "transcript_support_level": null,
          "aa_start": 390,
          "aa_end": null,
          "aa_length": 867,
          "cds_start": 1169,
          "cds_end": null,
          "cds_length": 2604,
          "cdna_start": 1258,
          "cdna_end": null,
          "cdna_length": 9129,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "n.1364C>T",
          "hgvs_p": null,
          "transcript": "ENST00000370221.3",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 1616,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "n.*544C>T",
          "hgvs_p": null,
          "transcript": "ENST00000636873.2",
          "protein_id": "ENSP00000518908.1",
          "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": 2166,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "n.1238C>T",
          "hgvs_p": null,
          "transcript": "ENST00000637632.2",
          "protein_id": "ENSP00000518917.1",
          "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": 9338,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "n.*544C>T",
          "hgvs_p": null,
          "transcript": "ENST00000636873.2",
          "protein_id": "ENSP00000518908.1",
          "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": 2166,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000280936",
          "gene_hgnc_id": null,
          "hgvs_c": "n.362-212G>A",
          "hgvs_p": null,
          "transcript": "ENST00000629794.1",
          "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": 519,
          "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": "KCNQ2",
          "gene_hgnc_id": 6296,
          "hgvs_c": "n.-26C>T",
          "hgvs_p": null,
          "transcript": "ENST00000637584.1",
          "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": "KCNQ2",
      "gene_hgnc_id": 6296,
      "dbsnp": "rs1270343938",
      "frequency_reference_population": 0.000004498408,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 7,
      "gnomad_exomes_af": 0.00000427372,
      "gnomad_genomes_af": 0.00000657134,
      "gnomad_exomes_ac": 6,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.23258215188980103,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.05000000074505806,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.432,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.0861,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.02,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 2.255,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.05,
      "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": -5,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PP2,BP4_Moderate,BS2",
      "acmg_by_gene": [
        {
          "score": -5,
          "benign_score": 6,
          "pathogenic_score": 1,
          "criteria": [
            "PP2",
            "BP4_Moderate",
            "BS2"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000359125.7",
          "gene_symbol": "KCNQ2",
          "hgnc_id": 6296,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1238C>T",
          "hgvs_p": "p.Pro413Leu"
        },
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000629794.1",
          "gene_symbol": "ENSG00000280936",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.362-212G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}