← 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: 17-75556068-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75556068&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 75556068,
      "ref": "A",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001031803.2",
      "consequences": [
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "NM_001031803.2",
          "protein_id": "NP_001026973.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1020,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3063,
          "cdna_start": 257,
          "cdna_end": null,
          "cdna_length": 3553,
          "mane_select": "ENST00000392550.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "ENST00000392550.8",
          "protein_id": "ENSP00000376333.4",
          "transcript_support_level": 1,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1020,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3063,
          "cdna_start": 257,
          "cdna_end": null,
          "cdna_length": 3553,
          "mane_select": "NM_001031803.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "ENST00000577200.5",
          "protein_id": "ENSP00000464397.1",
          "transcript_support_level": 1,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1019,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3060,
          "cdna_start": 202,
          "cdna_end": null,
          "cdna_length": 3192,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "ENST00000167462.9",
          "protein_id": "ENSP00000167462.5",
          "transcript_support_level": 1,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1015,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3048,
          "cdna_start": 228,
          "cdna_end": null,
          "cdna_length": 3480,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "ENST00000375227.8",
          "protein_id": "ENSP00000364375.4",
          "transcript_support_level": 1,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 356,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 1071,
          "cdna_start": 222,
          "cdna_end": null,
          "cdna_length": 1374,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "ENST00000578363.5",
          "protein_id": "ENSP00000464603.1",
          "transcript_support_level": 1,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 356,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 1071,
          "cdna_start": 239,
          "cdna_end": null,
          "cdna_length": 1393,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "NM_004524.3",
          "protein_id": "NP_004515.2",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1015,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3048,
          "cdna_start": 257,
          "cdna_end": null,
          "cdna_length": 3510,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "NM_001015002.2",
          "protein_id": "NP_001015002.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 356,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 1071,
          "cdna_start": 257,
          "cdna_end": null,
          "cdna_length": 1411,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.101A>C",
          "hgvs_p": "p.His34Pro",
          "transcript": "ENST00000583658.1",
          "protein_id": "ENSP00000464483.1",
          "transcript_support_level": 3,
          "aa_start": 34,
          "aa_end": null,
          "aa_length": 155,
          "cds_start": 101,
          "cds_end": null,
          "cds_length": 468,
          "cdna_start": 199,
          "cdna_end": null,
          "cdna_length": 566,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "ENST00000580578.5",
          "protein_id": "ENSP00000464598.1",
          "transcript_support_level": 4,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 149,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 452,
          "cdna_start": 223,
          "cdna_end": null,
          "cdna_length": 577,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "ENST00000581713.5",
          "protein_id": "ENSP00000463390.1",
          "transcript_support_level": 3,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 138,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 419,
          "cdna_start": 264,
          "cdna_end": null,
          "cdna_length": 585,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "ENST00000578536.5",
          "protein_id": "ENSP00000464451.1",
          "transcript_support_level": 5,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 104,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 316,
          "cdna_start": 566,
          "cdna_end": null,
          "cdna_length": 784,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "ENST00000579392.5",
          "protein_id": "ENSP00000463721.1",
          "transcript_support_level": 4,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 102,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 310,
          "cdna_start": 271,
          "cdna_end": null,
          "cdna_length": 483,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "ENST00000580925.1",
          "protein_id": "ENSP00000461953.1",
          "transcript_support_level": 3,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 38,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 119,
          "cdna_start": 183,
          "cdna_end": null,
          "cdna_length": 204,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_011524802.2",
          "protein_id": "XP_011523104.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1024,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3075,
          "cdna_start": 224,
          "cdna_end": null,
          "cdna_length": 3532,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435973.1",
          "protein_id": "XP_047291929.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1024,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3075,
          "cdna_start": 257,
          "cdna_end": null,
          "cdna_length": 3565,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435974.1",
          "protein_id": "XP_047291930.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1024,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3075,
          "cdna_start": 933,
          "cdna_end": null,
          "cdna_length": 4241,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435975.1",
          "protein_id": "XP_047291931.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1024,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3075,
          "cdna_start": 363,
          "cdna_end": null,
          "cdna_length": 3671,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435976.1",
          "protein_id": "XP_047291932.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1024,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3075,
          "cdna_start": 150,
          "cdna_end": null,
          "cdna_length": 3458,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435977.1",
          "protein_id": "XP_047291933.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1024,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3075,
          "cdna_start": 183,
          "cdna_end": null,
          "cdna_length": 3491,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435978.1",
          "protein_id": "XP_047291934.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1024,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3075,
          "cdna_start": 149,
          "cdna_end": null,
          "cdna_length": 3457,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435979.1",
          "protein_id": "XP_047291935.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1024,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3075,
          "cdna_start": 909,
          "cdna_end": null,
          "cdna_length": 4217,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435980.1",
          "protein_id": "XP_047291936.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1023,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3072,
          "cdna_start": 257,
          "cdna_end": null,
          "cdna_length": 3562,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_017024626.2",
          "protein_id": "XP_016880115.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1020,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3063,
          "cdna_start": 301,
          "cdna_end": null,
          "cdna_length": 3597,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435981.1",
          "protein_id": "XP_047291937.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1020,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3063,
          "cdna_start": 363,
          "cdna_end": null,
          "cdna_length": 3659,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435982.1",
          "protein_id": "XP_047291938.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1020,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3063,
          "cdna_start": 760,
          "cdna_end": null,
          "cdna_length": 4056,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435983.1",
          "protein_id": "XP_047291939.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1020,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3063,
          "cdna_start": 534,
          "cdna_end": null,
          "cdna_length": 3830,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435984.1",
          "protein_id": "XP_047291940.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1019,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3060,
          "cdna_start": 257,
          "cdna_end": null,
          "cdna_length": 3550,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435985.1",
          "protein_id": "XP_047291941.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1019,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3060,
          "cdna_start": 363,
          "cdna_end": null,
          "cdna_length": 3656,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435986.1",
          "protein_id": "XP_047291942.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1019,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3060,
          "cdna_start": 460,
          "cdna_end": null,
          "cdna_length": 3753,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435987.1",
          "protein_id": "XP_047291943.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1019,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3060,
          "cdna_start": 813,
          "cdna_end": null,
          "cdna_length": 4106,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435988.1",
          "protein_id": "XP_047291944.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1019,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3060,
          "cdna_start": 257,
          "cdna_end": null,
          "cdna_length": 3522,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435989.1",
          "protein_id": "XP_047291945.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1018,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3057,
          "cdna_start": 257,
          "cdna_end": null,
          "cdna_length": 3519,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_024450747.2",
          "protein_id": "XP_024306515.2",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1015,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3048,
          "cdna_start": 992,
          "cdna_end": null,
          "cdna_length": 4245,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435990.1",
          "protein_id": "XP_047291946.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1015,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3048,
          "cdna_start": 363,
          "cdna_end": null,
          "cdna_length": 3616,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435991.1",
          "protein_id": "XP_047291947.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1015,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3048,
          "cdna_start": 818,
          "cdna_end": null,
          "cdna_length": 4071,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435992.1",
          "protein_id": "XP_047291948.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1014,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3045,
          "cdna_start": 257,
          "cdna_end": null,
          "cdna_length": 3507,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435993.1",
          "protein_id": "XP_047291949.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1014,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3045,
          "cdna_start": 2008,
          "cdna_end": null,
          "cdna_length": 5258,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435994.1",
          "protein_id": "XP_047291950.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1014,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3045,
          "cdna_start": 394,
          "cdna_end": null,
          "cdna_length": 3644,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435995.1",
          "protein_id": "XP_047291951.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 1014,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3045,
          "cdna_start": 208,
          "cdna_end": null,
          "cdna_length": 3458,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435996.1",
          "protein_id": "XP_047291952.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 999,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 3000,
          "cdna_start": 257,
          "cdna_end": null,
          "cdna_length": 3172,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro",
          "transcript": "XM_047435998.1",
          "protein_id": "XP_047291954.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 356,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 1071,
          "cdna_start": 911,
          "cdna_end": null,
          "cdna_length": 2065,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LLGL2",
          "gene_hgnc_id": 6629,
          "hgvs_c": "c.-101A>C",
          "hgvs_p": null,
          "transcript": "XM_047435997.1",
          "protein_id": "XP_047291953.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 958,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2877,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3550,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "LLGL2",
      "gene_hgnc_id": 6629,
      "dbsnp": "rs1247821190",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": 0,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 0,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.8789958357810974,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.932,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.3226,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.52,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 9.268,
      "phylop100way_prediction": "Pathogenic",
      "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": 4,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP3_Moderate",
      "acmg_by_gene": [
        {
          "score": 4,
          "benign_score": 0,
          "pathogenic_score": 4,
          "criteria": [
            "PM2",
            "PP3_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001031803.2",
          "gene_symbol": "LLGL2",
          "hgnc_id": 6629,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.98A>C",
          "hgvs_p": "p.His33Pro"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}