← 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: 7-158902397-GT-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=158902397&ref=GT&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 158902397,
      "ref": "GT",
      "alt": "G",
      "effect": "frameshift_variant",
      "transcript": "NM_018051.5",
      "consequences": [
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1162delT",
          "hgvs_p": "p.Cys388fs",
          "transcript": "NM_018051.5",
          "protein_id": "NP_060521.4",
          "transcript_support_level": null,
          "aa_start": 388,
          "aa_end": null,
          "aa_length": 1066,
          "cds_start": 1162,
          "cds_end": null,
          "cds_length": 3201,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000407559.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_018051.5"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1162delT",
          "hgvs_p": "p.Cys388fs",
          "transcript": "ENST00000407559.8",
          "protein_id": "ENSP00000384290.3",
          "transcript_support_level": 1,
          "aa_start": 388,
          "aa_end": null,
          "aa_length": 1066,
          "cds_start": 1162,
          "cds_end": null,
          "cds_length": 3201,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_018051.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000407559.8"
        },
        {
          "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": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "n.493delT",
          "hgvs_p": null,
          "transcript": "ENST00000444851.5",
          "protein_id": "ENSP00000392608.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000444851.5"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1237delT",
          "hgvs_p": "p.Cys413fs",
          "transcript": "ENST00000860814.1",
          "protein_id": "ENSP00000530873.1",
          "transcript_support_level": null,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 1091,
          "cds_start": 1237,
          "cds_end": null,
          "cds_length": 3276,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860814.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1216delT",
          "hgvs_p": "p.Cys406fs",
          "transcript": "ENST00000961351.1",
          "protein_id": "ENSP00000631410.1",
          "transcript_support_level": null,
          "aa_start": 406,
          "aa_end": null,
          "aa_length": 1084,
          "cds_start": 1216,
          "cds_end": null,
          "cds_length": 3255,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961351.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1171delT",
          "hgvs_p": "p.Cys391fs",
          "transcript": "ENST00000860811.1",
          "protein_id": "ENSP00000530870.1",
          "transcript_support_level": null,
          "aa_start": 391,
          "aa_end": null,
          "aa_length": 1069,
          "cds_start": 1171,
          "cds_end": null,
          "cds_length": 3210,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860811.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1159delT",
          "hgvs_p": "p.Cys387fs",
          "transcript": "ENST00000936430.1",
          "protein_id": "ENSP00000606489.1",
          "transcript_support_level": null,
          "aa_start": 387,
          "aa_end": null,
          "aa_length": 1065,
          "cds_start": 1159,
          "cds_end": null,
          "cds_length": 3198,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936430.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1156delT",
          "hgvs_p": "p.Cys386fs",
          "transcript": "ENST00000860813.1",
          "protein_id": "ENSP00000530872.1",
          "transcript_support_level": null,
          "aa_start": 386,
          "aa_end": null,
          "aa_length": 1064,
          "cds_start": 1156,
          "cds_end": null,
          "cds_length": 3195,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860813.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1051delT",
          "hgvs_p": "p.Cys351fs",
          "transcript": "ENST00000860810.1",
          "protein_id": "ENSP00000530869.1",
          "transcript_support_level": null,
          "aa_start": 351,
          "aa_end": null,
          "aa_length": 1029,
          "cds_start": 1051,
          "cds_end": null,
          "cds_length": 3090,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860810.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1162delT",
          "hgvs_p": "p.Cys388fs",
          "transcript": "ENST00000961350.1",
          "protein_id": "ENSP00000631409.1",
          "transcript_support_level": null,
          "aa_start": 388,
          "aa_end": null,
          "aa_length": 1022,
          "cds_start": 1162,
          "cds_end": null,
          "cds_length": 3069,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961350.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1024delT",
          "hgvs_p": "p.Cys342fs",
          "transcript": "NM_001350914.2",
          "protein_id": "NP_001337843.1",
          "transcript_support_level": null,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 1020,
          "cds_start": 1024,
          "cds_end": null,
          "cds_length": 3063,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350914.2"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.982delT",
          "hgvs_p": "p.Cys328fs",
          "transcript": "ENST00000860812.1",
          "protein_id": "ENSP00000530871.1",
          "transcript_support_level": null,
          "aa_start": 328,
          "aa_end": null,
          "aa_length": 1006,
          "cds_start": 982,
          "cds_end": null,
          "cds_length": 3021,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860812.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1162delT",
          "hgvs_p": "p.Cys388fs",
          "transcript": "ENST00000961352.1",
          "protein_id": "ENSP00000631411.1",
          "transcript_support_level": null,
          "aa_start": 388,
          "aa_end": null,
          "aa_length": 1006,
          "cds_start": 1162,
          "cds_end": null,
          "cds_length": 3021,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961352.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.589delT",
          "hgvs_p": "p.Cys197fs",
          "transcript": "NM_001350915.2",
          "protein_id": "NP_001337844.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 875,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 2628,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350915.2"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1171delT",
          "hgvs_p": "p.Cys391fs",
          "transcript": "XM_006716041.3",
          "protein_id": "XP_006716104.1",
          "transcript_support_level": null,
          "aa_start": 391,
          "aa_end": null,
          "aa_length": 1069,
          "cds_start": 1171,
          "cds_end": null,
          "cds_length": 3210,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_006716041.3"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1171delT",
          "hgvs_p": "p.Cys391fs",
          "transcript": "XM_011516367.3",
          "protein_id": "XP_011514669.1",
          "transcript_support_level": null,
          "aa_start": 391,
          "aa_end": null,
          "aa_length": 1069,
          "cds_start": 1171,
          "cds_end": null,
          "cds_length": 3210,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011516367.3"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1162delT",
          "hgvs_p": "p.Cys388fs",
          "transcript": "XM_047420557.1",
          "protein_id": "XP_047276513.1",
          "transcript_support_level": null,
          "aa_start": 388,
          "aa_end": null,
          "aa_length": 1066,
          "cds_start": 1162,
          "cds_end": null,
          "cds_length": 3201,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420557.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1033delT",
          "hgvs_p": "p.Cys345fs",
          "transcript": "XM_011516369.3",
          "protein_id": "XP_011514671.1",
          "transcript_support_level": null,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 1023,
          "cds_start": 1033,
          "cds_end": null,
          "cds_length": 3072,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011516369.3"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1033delT",
          "hgvs_p": "p.Cys345fs",
          "transcript": "XM_017012381.3",
          "protein_id": "XP_016867870.1",
          "transcript_support_level": null,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 1023,
          "cds_start": 1033,
          "cds_end": null,
          "cds_length": 3072,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017012381.3"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1033delT",
          "hgvs_p": "p.Cys345fs",
          "transcript": "XM_047420555.1",
          "protein_id": "XP_047276511.1",
          "transcript_support_level": null,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 1023,
          "cds_start": 1033,
          "cds_end": null,
          "cds_length": 3072,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420555.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1033delT",
          "hgvs_p": "p.Cys345fs",
          "transcript": "XM_047420560.1",
          "protein_id": "XP_047276516.1",
          "transcript_support_level": null,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 1023,
          "cds_start": 1033,
          "cds_end": null,
          "cds_length": 3072,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420560.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1162delT",
          "hgvs_p": "p.Cys388fs",
          "transcript": "XM_017012382.2",
          "protein_id": "XP_016867871.1",
          "transcript_support_level": null,
          "aa_start": 388,
          "aa_end": null,
          "aa_length": 1022,
          "cds_start": 1162,
          "cds_end": null,
          "cds_length": 3069,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017012382.2"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1024delT",
          "hgvs_p": "p.Cys342fs",
          "transcript": "XM_047420556.1",
          "protein_id": "XP_047276512.1",
          "transcript_support_level": null,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 1020,
          "cds_start": 1024,
          "cds_end": null,
          "cds_length": 3063,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420556.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1033delT",
          "hgvs_p": "p.Cys345fs",
          "transcript": "XM_047420558.1",
          "protein_id": "XP_047276514.1",
          "transcript_support_level": null,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 979,
          "cds_start": 1033,
          "cds_end": null,
          "cds_length": 2940,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420558.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1024delT",
          "hgvs_p": "p.Cys342fs",
          "transcript": "XM_047420559.1",
          "protein_id": "XP_047276515.1",
          "transcript_support_level": null,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 976,
          "cds_start": 1024,
          "cds_end": null,
          "cds_length": 2931,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420559.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.598delT",
          "hgvs_p": "p.Cys200fs",
          "transcript": "XM_047420561.1",
          "protein_id": "XP_047276517.1",
          "transcript_support_level": null,
          "aa_start": 200,
          "aa_end": null,
          "aa_length": 878,
          "cds_start": 598,
          "cds_end": null,
          "cds_length": 2637,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420561.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.-205delT",
          "hgvs_p": null,
          "transcript": "NM_001350917.2",
          "protein_id": "NP_001337846.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 650,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1953,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350917.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.-205delT",
          "hgvs_p": null,
          "transcript": "NM_001350918.2",
          "protein_id": "NP_001337847.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 650,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1953,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350918.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.-197delT",
          "hgvs_p": null,
          "transcript": "NM_001350916.2",
          "protein_id": "NP_001337845.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 579,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1740,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350916.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.-300delT",
          "hgvs_p": null,
          "transcript": "XM_047420563.1",
          "protein_id": "XP_047276519.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 579,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1740,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420563.1"
        },
        {
          "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": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "n.273delT",
          "hgvs_p": null,
          "transcript": "ENST00000467220.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000467220.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "n.1250delT",
          "hgvs_p": null,
          "transcript": "XR_007060057.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "XR_007060057.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "n.1250delT",
          "hgvs_p": null,
          "transcript": "XR_007060058.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "XR_007060058.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "n.1250delT",
          "hgvs_p": null,
          "transcript": "XR_007060059.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "XR_007060059.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "n.1250delT",
          "hgvs_p": null,
          "transcript": "XR_007060060.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "XR_007060060.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "n.1250delT",
          "hgvs_p": null,
          "transcript": "XR_007060061.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "XR_007060061.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "n.1250delT",
          "hgvs_p": null,
          "transcript": "XR_007060062.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "XR_007060062.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "n.1250delT",
          "hgvs_p": null,
          "transcript": "XR_007060063.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "XR_007060063.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "n.1250delT",
          "hgvs_p": null,
          "transcript": "XR_007060064.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "XR_007060064.1"
        }
      ],
      "gene_symbol": "DYNC2I1",
      "gene_hgnc_id": 21862,
      "dbsnp": "rs1554460624",
      "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": null,
      "computational_prediction_selected": null,
      "computational_source_selected": null,
      "splice_score_selected": 0.019999999552965164,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": null,
      "bayesdelnoaf_prediction": null,
      "phylop100way_score": 2.512,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.02,
      "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": 12,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PVS1,PM2,PP5_Moderate",
      "acmg_by_gene": [
        {
          "score": 12,
          "benign_score": 0,
          "pathogenic_score": 12,
          "criteria": [
            "PVS1",
            "PM2",
            "PP5_Moderate"
          ],
          "verdict": "Pathogenic",
          "transcript": "NM_018051.5",
          "gene_symbol": "DYNC2I1",
          "hgnc_id": 21862,
          "effects": [
            "frameshift_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1162delT",
          "hgvs_p": "p.Cys388fs"
        }
      ],
      "clinvar_disease": "Short-rib thoracic dysplasia 8 with or without polydactyly",
      "clinvar_classification": "Likely pathogenic",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LP:1",
      "phenotype_combined": "Short-rib thoracic dysplasia 8 with or without polydactyly",
      "pathogenicity_classification_combined": "Likely pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}