← 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: 14-64087694-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64087694&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 64087694,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_182914.3",
      "consequences": [
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 116,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "NM_182914.3",
          "protein_id": "NP_878918.2",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6907,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20724,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21822,
          "mane_select": "ENST00000555002.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 116,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "ENST00000555002.6",
          "protein_id": "ENSP00000450831.2",
          "transcript_support_level": 1,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6907,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20724,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21822,
          "mane_select": "NM_182914.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 115,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "ENST00000344113.8",
          "protein_id": "ENSP00000341781.4",
          "transcript_support_level": 1,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6885,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20658,
          "cdna_start": 11720,
          "cdna_end": null,
          "cdna_length": 21777,
          "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": 63,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "n.1041G>C",
          "hgvs_p": null,
          "transcript": "ENST00000394768.6",
          "protein_id": null,
          "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": 11095,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 116,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "ENST00000358025.7",
          "protein_id": "ENSP00000350719.3",
          "transcript_support_level": 5,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6907,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20724,
          "cdna_start": 11720,
          "cdna_end": null,
          "cdna_length": 21842,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 115,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "NM_015180.6",
          "protein_id": "NP_055995.4",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6885,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20658,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21756,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 115,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11607G>C",
          "hgvs_p": "p.Gln3869His",
          "transcript": "ENST00000554584.5",
          "protein_id": "ENSP00000452570.1",
          "transcript_support_level": 5,
          "aa_start": 3869,
          "aa_end": null,
          "aa_length": 6818,
          "cds_start": 11607,
          "cds_end": null,
          "cds_length": 20457,
          "cdna_start": 11658,
          "cdna_end": null,
          "cdna_length": 20508,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 116,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_011536574.2",
          "protein_id": "XP_011534876.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6936,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20811,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21925,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 116,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_011536575.3",
          "protein_id": "XP_011534877.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6936,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20811,
          "cdna_start": 11785,
          "cdna_end": null,
          "cdna_length": 22011,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 59,
          "exon_rank_end": null,
          "exon_count": 117,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_011536576.3",
          "protein_id": "XP_011534878.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6936,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20811,
          "cdna_start": 11952,
          "cdna_end": null,
          "cdna_length": 22178,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 116,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_011536577.3",
          "protein_id": "XP_011534879.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6936,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20811,
          "cdna_start": 11636,
          "cdna_end": null,
          "cdna_length": 21862,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 116,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_017021101.2",
          "protein_id": "XP_016876590.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6936,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20811,
          "cdna_start": 21848,
          "cdna_end": null,
          "cdna_length": 32074,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 116,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_047431149.1",
          "protein_id": "XP_047287105.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6936,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20811,
          "cdna_start": 11703,
          "cdna_end": null,
          "cdna_length": 21929,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 116,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_047431150.1",
          "protein_id": "XP_047287106.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6936,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20811,
          "cdna_start": 11591,
          "cdna_end": null,
          "cdna_length": 21817,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 116,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_047431151.1",
          "protein_id": "XP_047287107.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6936,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20811,
          "cdna_start": 11643,
          "cdna_end": null,
          "cdna_length": 21869,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 59,
          "exon_rank_end": null,
          "exon_count": 117,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_047431152.1",
          "protein_id": "XP_047287108.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6936,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20811,
          "cdna_start": 11946,
          "cdna_end": null,
          "cdna_length": 22172,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 116,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_011536578.2",
          "protein_id": "XP_011534880.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6935,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20808,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21922,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 116,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_005267454.2",
          "protein_id": "XP_005267511.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6922,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20769,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21883,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 116,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_011536579.2",
          "protein_id": "XP_011534881.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6922,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20769,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21883,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 116,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_005267456.2",
          "protein_id": "XP_005267513.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6921,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20766,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21880,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 116,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_011536580.3",
          "protein_id": "XP_011534882.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6921,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20766,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21880,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 115,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_011536581.2",
          "protein_id": "XP_011534883.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6913,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20742,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21856,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 115,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_047431153.1",
          "protein_id": "XP_047287109.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6912,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20739,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21853,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 116,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_005267457.2",
          "protein_id": "XP_005267514.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6908,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20727,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21841,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 115,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_005267458.2",
          "protein_id": "XP_005267515.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6899,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20700,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21814,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 115,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_047431154.1",
          "protein_id": "XP_047287110.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6899,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20700,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21814,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 115,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_047431155.1",
          "protein_id": "XP_047287111.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6898,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20697,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21811,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 115,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_047431156.1",
          "protein_id": "XP_047287112.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6898,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20697,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21811,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 115,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_011536582.2",
          "protein_id": "XP_011534884.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6897,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20694,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21808,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 115,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_005267459.2",
          "protein_id": "XP_005267516.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6884,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20655,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21769,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 115,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_047431157.1",
          "protein_id": "XP_047287113.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6868,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20607,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21721,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 114,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_047431158.1",
          "protein_id": "XP_047287114.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 6846,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 20541,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 21655,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 77,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His",
          "transcript": "XM_047431159.1",
          "protein_id": "XP_047287115.1",
          "transcript_support_level": null,
          "aa_start": 3836,
          "aa_end": null,
          "aa_length": 4788,
          "cds_start": 11508,
          "cds_end": null,
          "cds_length": 14367,
          "cdna_start": 11699,
          "cdna_end": null,
          "cdna_length": 14658,
          "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": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "n.791G>C",
          "hgvs_p": null,
          "transcript": "ENST00000557060.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3203,
          "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": 57,
          "exon_rank_end": null,
          "exon_count": 57,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "n.*8423G>C",
          "hgvs_p": null,
          "transcript": "ENST00000674144.1",
          "protein_id": "ENSP00000501227.1",
          "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": 12249,
          "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": 57,
          "exon_rank_end": null,
          "exon_count": 57,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE2",
          "gene_hgnc_id": 17084,
          "hgvs_c": "n.*8423G>C",
          "hgvs_p": null,
          "transcript": "ENST00000674144.1",
          "protein_id": "ENSP00000501227.1",
          "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": 12249,
          "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": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "ESR2",
          "gene_hgnc_id": 3468,
          "hgvs_c": "c.1407-2642C>G",
          "hgvs_p": null,
          "transcript": "ENST00000556275.5",
          "protein_id": "ENSP00000452485.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 513,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1542,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2695,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "SYNE2",
      "gene_hgnc_id": 17084,
      "dbsnp": "rs1315959283",
      "frequency_reference_population": 0.000004337137,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 7,
      "gnomad_exomes_af": 0.00000342046,
      "gnomad_genomes_af": 0.0000131427,
      "gnomad_exomes_ac": 5,
      "gnomad_genomes_ac": 2,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.24675533175468445,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.109,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.5895,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.31,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.242,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -6,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Moderate,BS2",
      "acmg_by_gene": [
        {
          "score": -6,
          "benign_score": 6,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BS2"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_182914.3",
          "gene_symbol": "SYNE2",
          "hgnc_id": 17084,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD,Unknown",
          "hgvs_c": "c.11508G>C",
          "hgvs_p": "p.Gln3836His"
        },
        {
          "score": -2,
          "benign_score": 2,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000556275.5",
          "gene_symbol": "ESR2",
          "hgnc_id": 3468,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD,AR,Unknown",
          "hgvs_c": "c.1407-2642C>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": " autosomal dominant,Emery-Dreifuss muscular dystrophy 5",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}