← 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: 2-47803539-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47803539&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 47803539,
      "ref": "T",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000234420.11",
      "consequences": [
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.3292T>A",
          "hgvs_p": "p.Cys1098Ser",
          "transcript": "NM_000179.3",
          "protein_id": "NP_000170.1",
          "transcript_support_level": null,
          "aa_start": 1098,
          "aa_end": null,
          "aa_length": 1360,
          "cds_start": 3292,
          "cds_end": null,
          "cds_length": 4083,
          "cdna_start": 3381,
          "cdna_end": null,
          "cdna_length": 4265,
          "mane_select": "ENST00000234420.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.3292T>A",
          "hgvs_p": "p.Cys1098Ser",
          "transcript": "ENST00000234420.11",
          "protein_id": "ENSP00000234420.5",
          "transcript_support_level": 1,
          "aa_start": 1098,
          "aa_end": null,
          "aa_length": 1360,
          "cds_start": 3292,
          "cds_end": null,
          "cds_length": 4083,
          "cdna_start": 3381,
          "cdna_end": null,
          "cdna_length": 4265,
          "mane_select": "NM_000179.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.*2639T>A",
          "hgvs_p": null,
          "transcript": "ENST00000445503.5",
          "protein_id": "ENSP00000405294.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4158,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.*2639T>A",
          "hgvs_p": null,
          "transcript": "ENST00000445503.5",
          "protein_id": "ENSP00000405294.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4158,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.3388T>A",
          "hgvs_p": "p.Cys1130Ser",
          "transcript": "NM_001406795.1",
          "protein_id": "NP_001393724.1",
          "transcript_support_level": null,
          "aa_start": 1130,
          "aa_end": null,
          "aa_length": 1392,
          "cds_start": 3388,
          "cds_end": null,
          "cds_length": 4179,
          "cdna_start": 3477,
          "cdna_end": null,
          "cdna_length": 4361,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.3298T>A",
          "hgvs_p": "p.Cys1100Ser",
          "transcript": "NM_001406813.1",
          "protein_id": "NP_001393742.1",
          "transcript_support_level": null,
          "aa_start": 1100,
          "aa_end": null,
          "aa_length": 1362,
          "cds_start": 3298,
          "cds_end": null,
          "cds_length": 4089,
          "cdna_start": 3387,
          "cdna_end": null,
          "cdna_length": 4271,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.3298T>A",
          "hgvs_p": "p.Cys1100Ser",
          "transcript": "ENST00000700002.1",
          "protein_id": "ENSP00000514750.1",
          "transcript_support_level": null,
          "aa_start": 1100,
          "aa_end": null,
          "aa_length": 1362,
          "cds_start": 3298,
          "cds_end": null,
          "cds_length": 4089,
          "cdna_start": 3370,
          "cdna_end": null,
          "cdna_length": 4233,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.3292T>A",
          "hgvs_p": "p.Cys1098Ser",
          "transcript": "NM_001406796.1",
          "protein_id": "NP_001393725.1",
          "transcript_support_level": null,
          "aa_start": 1098,
          "aa_end": null,
          "aa_length": 1360,
          "cds_start": 3292,
          "cds_end": null,
          "cds_length": 4083,
          "cdna_start": 3381,
          "cdna_end": null,
          "cdna_length": 4315,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.3292T>A",
          "hgvs_p": "p.Cys1098Ser",
          "transcript": "NM_001406809.1",
          "protein_id": "NP_001393738.1",
          "transcript_support_level": null,
          "aa_start": 1098,
          "aa_end": null,
          "aa_length": 1360,
          "cds_start": 3292,
          "cds_end": null,
          "cds_length": 4083,
          "cdna_start": 3381,
          "cdna_end": null,
          "cdna_length": 4318,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.3292T>A",
          "hgvs_p": "p.Cys1098Ser",
          "transcript": "NM_001406808.1",
          "protein_id": "NP_001393737.1",
          "transcript_support_level": null,
          "aa_start": 1098,
          "aa_end": null,
          "aa_length": 1337,
          "cds_start": 3292,
          "cds_end": null,
          "cds_length": 4014,
          "cdna_start": 3381,
          "cdna_end": null,
          "cdna_length": 4260,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.3214T>A",
          "hgvs_p": "p.Cys1072Ser",
          "transcript": "NM_001406804.1",
          "protein_id": "NP_001393733.1",
          "transcript_support_level": null,
          "aa_start": 1072,
          "aa_end": null,
          "aa_length": 1334,
          "cds_start": 3214,
          "cds_end": null,
          "cds_length": 4005,
          "cdna_start": 3358,
          "cdna_end": null,
          "cdna_length": 4242,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.3292T>A",
          "hgvs_p": "p.Cys1098Ser",
          "transcript": "NM_001406800.1",
          "protein_id": "NP_001393729.1",
          "transcript_support_level": null,
          "aa_start": 1098,
          "aa_end": null,
          "aa_length": 1321,
          "cds_start": 3292,
          "cds_end": null,
          "cds_length": 3966,
          "cdna_start": 3381,
          "cdna_end": null,
          "cdna_length": 4252,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.3388T>A",
          "hgvs_p": "p.Cys1130Ser",
          "transcript": "NM_001406802.1",
          "protein_id": "NP_001393731.1",
          "transcript_support_level": null,
          "aa_start": 1130,
          "aa_end": null,
          "aa_length": 1304,
          "cds_start": 3388,
          "cds_end": null,
          "cds_length": 3915,
          "cdna_start": 3477,
          "cdna_end": null,
          "cdna_length": 4161,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.3124T>A",
          "hgvs_p": "p.Cys1042Ser",
          "transcript": "NM_001406826.1",
          "protein_id": "NP_001393755.1",
          "transcript_support_level": null,
          "aa_start": 1042,
          "aa_end": null,
          "aa_length": 1304,
          "cds_start": 3124,
          "cds_end": null,
          "cds_length": 3915,
          "cdna_start": 3504,
          "cdna_end": null,
          "cdna_length": 4388,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2995T>A",
          "hgvs_p": "p.Cys999Ser",
          "transcript": "NM_001406797.1",
          "protein_id": "NP_001393726.1",
          "transcript_support_level": null,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2995,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 3119,
          "cdna_end": null,
          "cdna_length": 4003,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2995T>A",
          "hgvs_p": "p.Cys999Ser",
          "transcript": "NM_001406805.1",
          "protein_id": "NP_001393734.1",
          "transcript_support_level": null,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2995,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 3119,
          "cdna_end": null,
          "cdna_length": 4053,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2995T>A",
          "hgvs_p": "p.Cys999Ser",
          "transcript": "NM_001406818.1",
          "protein_id": "NP_001393747.1",
          "transcript_support_level": null,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2995,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 3209,
          "cdna_end": null,
          "cdna_length": 4093,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2995T>A",
          "hgvs_p": "p.Cys999Ser",
          "transcript": "NM_001406819.1",
          "protein_id": "NP_001393748.1",
          "transcript_support_level": null,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2995,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 3185,
          "cdna_end": null,
          "cdna_length": 4069,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2995T>A",
          "hgvs_p": "p.Cys999Ser",
          "transcript": "NM_001406820.1",
          "protein_id": "NP_001393749.1",
          "transcript_support_level": null,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2995,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 3086,
          "cdna_end": null,
          "cdna_length": 3970,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2995T>A",
          "hgvs_p": "p.Cys999Ser",
          "transcript": "NM_001406821.1",
          "protein_id": "NP_001393750.1",
          "transcript_support_level": null,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2995,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 3185,
          "cdna_end": null,
          "cdna_length": 4119,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2995T>A",
          "hgvs_p": "p.Cys999Ser",
          "transcript": "NM_001406824.1",
          "protein_id": "NP_001393753.1",
          "transcript_support_level": null,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2995,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 3182,
          "cdna_end": null,
          "cdna_length": 4066,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2995T>A",
          "hgvs_p": "p.Cys999Ser",
          "transcript": "NM_001406825.1",
          "protein_id": "NP_001393754.1",
          "transcript_support_level": null,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2995,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 3281,
          "cdna_end": null,
          "cdna_length": 4165,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2995T>A",
          "hgvs_p": "p.Cys999Ser",
          "transcript": "NM_001406827.1",
          "protein_id": "NP_001393756.1",
          "transcript_support_level": null,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2995,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 3115,
          "cdna_end": null,
          "cdna_length": 3999,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2995T>A",
          "hgvs_p": "p.Cys999Ser",
          "transcript": "NM_001406828.1",
          "protein_id": "NP_001393757.1",
          "transcript_support_level": null,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2995,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 3086,
          "cdna_end": null,
          "cdna_length": 4020,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2995T>A",
          "hgvs_p": "p.Cys999Ser",
          "transcript": "NM_001406830.1",
          "protein_id": "NP_001393759.1",
          "transcript_support_level": null,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2995,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 3957,
          "cdna_end": null,
          "cdna_length": 4841,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2995T>A",
          "hgvs_p": "p.Cys999Ser",
          "transcript": "ENST00000411819.2",
          "protein_id": "ENSP00000406248.2",
          "transcript_support_level": 4,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2995,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 3090,
          "cdna_end": null,
          "cdna_length": 3974,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2995T>A",
          "hgvs_p": "p.Cys999Ser",
          "transcript": "ENST00000420813.6",
          "protein_id": "ENSP00000390382.2",
          "transcript_support_level": 4,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2995,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 3222,
          "cdna_end": null,
          "cdna_length": 4106,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2995T>A",
          "hgvs_p": "p.Cys999Ser",
          "transcript": "ENST00000455383.6",
          "protein_id": "ENSP00000397484.2",
          "transcript_support_level": 5,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2995,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 3226,
          "cdna_end": null,
          "cdna_length": 4110,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2995T>A",
          "hgvs_p": "p.Cys999Ser",
          "transcript": "ENST00000652107.1",
          "protein_id": "ENSP00000498629.1",
          "transcript_support_level": null,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2995,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 3675,
          "cdna_end": null,
          "cdna_length": 7669,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2995T>A",
          "hgvs_p": "p.Cys999Ser",
          "transcript": "ENST00000673637.1",
          "protein_id": "ENSP00000501310.1",
          "transcript_support_level": null,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2995,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 3113,
          "cdna_end": null,
          "cdna_length": 3959,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2995T>A",
          "hgvs_p": "p.Cys999Ser",
          "transcript": "NM_001406801.1",
          "protein_id": "NP_001393730.1",
          "transcript_support_level": null,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1238,
          "cds_start": 2995,
          "cds_end": null,
          "cds_length": 3717,
          "cdna_start": 3119,
          "cdna_end": null,
          "cdna_length": 3998,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2995T>A",
          "hgvs_p": "p.Cys999Ser",
          "transcript": "NM_001406822.1",
          "protein_id": "NP_001393751.1",
          "transcript_support_level": null,
          "aa_start": 999,
          "aa_end": null,
          "aa_length": 1238,
          "cds_start": 2995,
          "cds_end": null,
          "cds_length": 3717,
          "cdna_start": 3185,
          "cdna_end": null,
          "cdna_length": 4064,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2902T>A",
          "hgvs_p": "p.Cys968Ser",
          "transcript": "NM_001281492.2",
          "protein_id": "NP_001268421.1",
          "transcript_support_level": null,
          "aa_start": 968,
          "aa_end": null,
          "aa_length": 1230,
          "cds_start": 2902,
          "cds_end": null,
          "cds_length": 3693,
          "cdna_start": 2991,
          "cdna_end": null,
          "cdna_length": 3875,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2902T>A",
          "hgvs_p": "p.Cys968Ser",
          "transcript": "ENST00000540021.6",
          "protein_id": "ENSP00000446475.1",
          "transcript_support_level": 2,
          "aa_start": 968,
          "aa_end": null,
          "aa_length": 1230,
          "cds_start": 2902,
          "cds_end": null,
          "cds_length": 3693,
          "cdna_start": 2953,
          "cdna_end": null,
          "cdna_length": 3829,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2767T>A",
          "hgvs_p": "p.Cys923Ser",
          "transcript": "NM_001406799.1",
          "protein_id": "NP_001393728.1",
          "transcript_support_level": null,
          "aa_start": 923,
          "aa_end": null,
          "aa_length": 1185,
          "cds_start": 2767,
          "cds_end": null,
          "cds_length": 3558,
          "cdna_start": 3184,
          "cdna_end": null,
          "cdna_length": 4068,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2767T>A",
          "hgvs_p": "p.Cys923Ser",
          "transcript": "NM_001406806.1",
          "protein_id": "NP_001393735.1",
          "transcript_support_level": null,
          "aa_start": 923,
          "aa_end": null,
          "aa_length": 1185,
          "cds_start": 2767,
          "cds_end": null,
          "cds_length": 3558,
          "cdna_start": 2922,
          "cdna_end": null,
          "cdna_length": 3806,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2767T>A",
          "hgvs_p": "p.Cys923Ser",
          "transcript": "NM_001406807.1",
          "protein_id": "NP_001393736.1",
          "transcript_support_level": null,
          "aa_start": 923,
          "aa_end": null,
          "aa_length": 1185,
          "cds_start": 2767,
          "cds_end": null,
          "cds_length": 3558,
          "cdna_start": 3784,
          "cdna_end": null,
          "cdna_length": 4668,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2428T>A",
          "hgvs_p": "p.Cys810Ser",
          "transcript": "NM_001406803.1",
          "protein_id": "NP_001393732.1",
          "transcript_support_level": null,
          "aa_start": 810,
          "aa_end": null,
          "aa_length": 1072,
          "cds_start": 2428,
          "cds_end": null,
          "cds_length": 3219,
          "cdna_start": 2517,
          "cdna_end": null,
          "cdna_length": 3401,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2386T>A",
          "hgvs_p": "p.Cys796Ser",
          "transcript": "NM_001281493.2",
          "protein_id": "NP_001268422.1",
          "transcript_support_level": null,
          "aa_start": 796,
          "aa_end": null,
          "aa_length": 1058,
          "cds_start": 2386,
          "cds_end": null,
          "cds_length": 3177,
          "cdna_start": 3211,
          "cdna_end": null,
          "cdna_length": 4095,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2386T>A",
          "hgvs_p": "p.Cys796Ser",
          "transcript": "NM_001281494.2",
          "protein_id": "NP_001268423.1",
          "transcript_support_level": null,
          "aa_start": 796,
          "aa_end": null,
          "aa_length": 1058,
          "cds_start": 2386,
          "cds_end": null,
          "cds_length": 3177,
          "cdna_start": 3179,
          "cdna_end": null,
          "cdna_length": 4063,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2386T>A",
          "hgvs_p": "p.Cys796Ser",
          "transcript": "NM_001406811.1",
          "protein_id": "NP_001393740.1",
          "transcript_support_level": null,
          "aa_start": 796,
          "aa_end": null,
          "aa_length": 1058,
          "cds_start": 2386,
          "cds_end": null,
          "cds_length": 3177,
          "cdna_start": 3211,
          "cdna_end": null,
          "cdna_length": 4145,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2386T>A",
          "hgvs_p": "p.Cys796Ser",
          "transcript": "NM_001406812.1",
          "protein_id": "NP_001393741.1",
          "transcript_support_level": null,
          "aa_start": 796,
          "aa_end": null,
          "aa_length": 1058,
          "cds_start": 2386,
          "cds_end": null,
          "cds_length": 3177,
          "cdna_start": 3058,
          "cdna_end": null,
          "cdna_length": 3942,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2386T>A",
          "hgvs_p": "p.Cys796Ser",
          "transcript": "NM_001406814.1",
          "protein_id": "NP_001393743.1",
          "transcript_support_level": null,
          "aa_start": 796,
          "aa_end": null,
          "aa_length": 1058,
          "cds_start": 2386,
          "cds_end": null,
          "cds_length": 3177,
          "cdna_start": 3469,
          "cdna_end": null,
          "cdna_length": 4353,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2386T>A",
          "hgvs_p": "p.Cys796Ser",
          "transcript": "NM_001406815.1",
          "protein_id": "NP_001393744.1",
          "transcript_support_level": null,
          "aa_start": 796,
          "aa_end": null,
          "aa_length": 1058,
          "cds_start": 2386,
          "cds_end": null,
          "cds_length": 3177,
          "cdna_start": 2752,
          "cdna_end": null,
          "cdna_length": 3636,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2386T>A",
          "hgvs_p": "p.Cys796Ser",
          "transcript": "NM_001406816.1",
          "protein_id": "NP_001393745.1",
          "transcript_support_level": null,
          "aa_start": 796,
          "aa_end": null,
          "aa_length": 1058,
          "cds_start": 2386,
          "cds_end": null,
          "cds_length": 3177,
          "cdna_start": 3014,
          "cdna_end": null,
          "cdna_length": 3898,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2386T>A",
          "hgvs_p": "p.Cys796Ser",
          "transcript": "NM_001406823.1",
          "protein_id": "NP_001393752.1",
          "transcript_support_level": null,
          "aa_start": 796,
          "aa_end": null,
          "aa_length": 1058,
          "cds_start": 2386,
          "cds_end": null,
          "cds_length": 3177,
          "cdna_start": 2916,
          "cdna_end": null,
          "cdna_length": 3800,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2386T>A",
          "hgvs_p": "p.Cys796Ser",
          "transcript": "NM_001406829.1",
          "protein_id": "NP_001393758.1",
          "transcript_support_level": null,
          "aa_start": 796,
          "aa_end": null,
          "aa_length": 1058,
          "cds_start": 2386,
          "cds_end": null,
          "cds_length": 3177,
          "cdna_start": 3015,
          "cdna_end": null,
          "cdna_length": 3899,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.1726T>A",
          "hgvs_p": "p.Cys576Ser",
          "transcript": "NM_001406817.1",
          "protein_id": "NP_001393746.1",
          "transcript_support_level": null,
          "aa_start": 576,
          "aa_end": null,
          "aa_length": 838,
          "cds_start": 1726,
          "cds_end": null,
          "cds_length": 2517,
          "cdna_start": 1815,
          "cdna_end": null,
          "cdna_length": 2699,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.1726T>A",
          "hgvs_p": "p.Cys576Ser",
          "transcript": "ENST00000700000.1",
          "protein_id": "ENSP00000514749.1",
          "transcript_support_level": null,
          "aa_start": 576,
          "aa_end": null,
          "aa_length": 838,
          "cds_start": 1726,
          "cds_end": null,
          "cds_length": 2517,
          "cdna_start": 1809,
          "cdna_end": null,
          "cdna_length": 2646,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.1237T>A",
          "hgvs_p": "p.Cys413Ser",
          "transcript": "NM_001407362.1",
          "protein_id": "NP_001394291.1",
          "transcript_support_level": null,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 675,
          "cds_start": 1237,
          "cds_end": null,
          "cds_length": 2028,
          "cdna_start": 1326,
          "cdna_end": null,
          "cdna_length": 2210,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.139T>A",
          "hgvs_p": "p.Cys47Ser",
          "transcript": "NM_001406832.1",
          "protein_id": "NP_001393761.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 309,
          "cds_start": 139,
          "cds_end": null,
          "cds_length": 930,
          "cdna_start": 2004,
          "cdna_end": null,
          "cdna_length": 2888,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.73T>A",
          "hgvs_p": "p.Cys25Ser",
          "transcript": "NM_001406831.1",
          "protein_id": "NP_001393760.1",
          "transcript_support_level": null,
          "aa_start": 25,
          "aa_end": null,
          "aa_length": 287,
          "cds_start": 73,
          "cds_end": null,
          "cds_length": 864,
          "cdna_start": 514,
          "cdna_end": null,
          "cdna_length": 1398,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.3376T>A",
          "hgvs_p": null,
          "transcript": "ENST00000699999.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 4822,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.*57T>A",
          "hgvs_p": null,
          "transcript": "ENST00000700003.1",
          "protein_id": "ENSP00000514751.1",
          "transcript_support_level": null,
          "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": 1593,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.2143T>A",
          "hgvs_p": null,
          "transcript": "ENST00000700005.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 3067,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.2140T>A",
          "hgvs_p": null,
          "transcript": "ENST00000700006.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 5230,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.1297T>A",
          "hgvs_p": null,
          "transcript": "ENST00000700007.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2750,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.871T>A",
          "hgvs_p": null,
          "transcript": "ENST00000700008.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2401,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.870T>A",
          "hgvs_p": null,
          "transcript": "ENST00000700009.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2812,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.701T>A",
          "hgvs_p": null,
          "transcript": "ENST00000700010.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1547,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.772T>A",
          "hgvs_p": null,
          "transcript": "ENST00000700011.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 3433,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.2222T>A",
          "hgvs_p": null,
          "transcript": "NR_176256.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 3106,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.3553T>A",
          "hgvs_p": null,
          "transcript": "NR_176257.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 4437,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.3482T>A",
          "hgvs_p": null,
          "transcript": "NR_176258.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 4366,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.3381T>A",
          "hgvs_p": null,
          "transcript": "NR_176259.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 4379,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.3381T>A",
          "hgvs_p": null,
          "transcript": "NR_176261.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 4147,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.*57T>A",
          "hgvs_p": null,
          "transcript": "ENST00000700003.1",
          "protein_id": "ENSP00000514751.1",
          "transcript_support_level": null,
          "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": 1593,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.3173-55T>A",
          "hgvs_p": null,
          "transcript": "NM_001406798.1",
          "protein_id": "NP_001393727.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4091,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.3173-2079T>A",
          "hgvs_p": null,
          "transcript": "ENST00000700004.2",
          "protein_id": "ENSP00000514752.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1232,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3699,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3850,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FBXO11",
          "gene_hgnc_id": 13590,
          "hgvs_c": "c.169+4656A>T",
          "hgvs_p": null,
          "transcript": "ENST00000405808.5",
          "protein_id": "ENSP00000385127.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 57,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 174,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 299,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FBXO11",
          "gene_hgnc_id": 13590,
          "hgvs_c": "n.*124+4455A>T",
          "hgvs_p": null,
          "transcript": "ENST00000434234.5",
          "protein_id": "ENSP00000402692.1",
          "transcript_support_level": 3,
          "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": 572,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "MSH6",
      "gene_hgnc_id": 7329,
      "dbsnp": "rs1553331482",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.9075746536254883,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.912,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.5774,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.37,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 7.991,
      "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": "ENST00000234420.11",
          "gene_symbol": "MSH6",
          "hgnc_id": 7329,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.3292T>A",
          "hgvs_p": "p.Cys1098Ser"
        },
        {
          "score": 4,
          "benign_score": 0,
          "pathogenic_score": 4,
          "criteria": [
            "PM2",
            "PP3_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000434234.5",
          "gene_symbol": "FBXO11",
          "hgnc_id": 13590,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "n.*124+4455A>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Hereditary cancer-predisposing syndrome,Hereditary nonpolyposis colorectal neoplasms",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "US:3",
      "phenotype_combined": "Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}