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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: 4-113373380-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=113373380&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 113373380,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_001386174.1",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 45,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11790C>T",
          "hgvs_p": "p.Ile3930Ile",
          "transcript": "NM_001148.6",
          "protein_id": "NP_001139.3",
          "transcript_support_level": null,
          "aa_start": 3930,
          "aa_end": null,
          "aa_length": 3957,
          "cds_start": 11790,
          "cds_end": null,
          "cds_length": 11874,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000357077.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001148.6"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 45,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11790C>T",
          "hgvs_p": "p.Ile3930Ile",
          "transcript": "ENST00000357077.9",
          "protein_id": "ENSP00000349588.4",
          "transcript_support_level": 1,
          "aa_start": 3930,
          "aa_end": null,
          "aa_length": 3957,
          "cds_start": 11790,
          "cds_end": null,
          "cds_length": 11874,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001148.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000357077.9"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 48,
          "exon_rank_end": null,
          "exon_count": 51,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.12024C>T",
          "hgvs_p": "p.Ile4008Ile",
          "transcript": "ENST00000506344.6",
          "protein_id": "ENSP00000422888.2",
          "transcript_support_level": 1,
          "aa_start": 4008,
          "aa_end": null,
          "aa_length": 4183,
          "cds_start": 12024,
          "cds_end": null,
          "cds_length": 12552,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000506344.6"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.5535C>T",
          "hgvs_p": "p.Ile1845Ile",
          "transcript": "ENST00000394537.7",
          "protein_id": "ENSP00000378044.3",
          "transcript_support_level": 1,
          "aa_start": 1845,
          "aa_end": null,
          "aa_length": 1872,
          "cds_start": 5535,
          "cds_end": null,
          "cds_length": 5619,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000394537.7"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.5508C>T",
          "hgvs_p": "p.Ile1836Ile",
          "transcript": "ENST00000506722.5",
          "protein_id": "ENSP00000421067.1",
          "transcript_support_level": 1,
          "aa_start": 1836,
          "aa_end": null,
          "aa_length": 1863,
          "cds_start": 5508,
          "cds_end": null,
          "cds_length": 5592,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000506722.5"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.2631C>T",
          "hgvs_p": "p.Ile877Ile",
          "transcript": "ENST00000514960.5",
          "protein_id": "ENSP00000422853.1",
          "transcript_support_level": 1,
          "aa_start": 877,
          "aa_end": null,
          "aa_length": 965,
          "cds_start": 2631,
          "cds_end": null,
          "cds_length": 2898,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000514960.5"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.21C>T",
          "hgvs_p": "p.Ile7Ile",
          "transcript": "ENST00000514167.1",
          "protein_id": "ENSP00000422486.1",
          "transcript_support_level": 1,
          "aa_start": 7,
          "aa_end": null,
          "aa_length": 79,
          "cds_start": 21,
          "cds_end": null,
          "cds_length": 242,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000514167.1"
        },
        {
          "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": 15,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.2037+3575C>T",
          "hgvs_p": null,
          "transcript": "ENST00000510275.8",
          "protein_id": "ENSP00000421023.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000510275.8"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 48,
          "exon_rank_end": null,
          "exon_count": 51,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.12024C>T",
          "hgvs_p": "p.Ile4008Ile",
          "transcript": "NM_001386174.1",
          "protein_id": "NP_001373103.1",
          "transcript_support_level": null,
          "aa_start": 4008,
          "aa_end": null,
          "aa_length": 4183,
          "cds_start": 12024,
          "cds_end": null,
          "cds_length": 12552,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001386174.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 50,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.12000C>T",
          "hgvs_p": "p.Ile4000Ile",
          "transcript": "NM_001386175.1",
          "protein_id": "NP_001373104.1",
          "transcript_support_level": null,
          "aa_start": 4000,
          "aa_end": null,
          "aa_length": 4175,
          "cds_start": 12000,
          "cds_end": null,
          "cds_length": 12528,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001386175.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11721C>T",
          "hgvs_p": "p.Ile3907Ile",
          "transcript": "ENST00000672209.1",
          "protein_id": "ENSP00000499982.1",
          "transcript_support_level": null,
          "aa_start": 3907,
          "aa_end": null,
          "aa_length": 3995,
          "cds_start": 11721,
          "cds_end": null,
          "cds_length": 11988,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000672209.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11871C>T",
          "hgvs_p": "p.Ile3957Ile",
          "transcript": "ENST00000672240.1",
          "protein_id": "ENSP00000500548.1",
          "transcript_support_level": null,
          "aa_start": 3957,
          "aa_end": null,
          "aa_length": 3984,
          "cds_start": 11871,
          "cds_end": null,
          "cds_length": 11955,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000672240.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 45,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11835C>T",
          "hgvs_p": "p.Ile3945Ile",
          "transcript": "ENST00000671971.1",
          "protein_id": "ENSP00000499832.1",
          "transcript_support_level": null,
          "aa_start": 3945,
          "aa_end": null,
          "aa_length": 3972,
          "cds_start": 11835,
          "cds_end": null,
          "cds_length": 11919,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000671971.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 45,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11628C>T",
          "hgvs_p": "p.Ile3876Ile",
          "transcript": "ENST00000673298.1",
          "protein_id": "ENSP00000500245.1",
          "transcript_support_level": null,
          "aa_start": 3876,
          "aa_end": null,
          "aa_length": 3964,
          "cds_start": 11628,
          "cds_end": null,
          "cds_length": 11895,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000673298.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 45,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11628C>T",
          "hgvs_p": "p.Ile3876Ile",
          "transcript": "ENST00000503423.6",
          "protein_id": "ENSP00000421011.2",
          "transcript_support_level": 5,
          "aa_start": 3876,
          "aa_end": null,
          "aa_length": 3961,
          "cds_start": 11628,
          "cds_end": null,
          "cds_length": 11886,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000503423.6"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11556C>T",
          "hgvs_p": "p.Ile3852Ile",
          "transcript": "NM_001386142.1",
          "protein_id": "NP_001373071.1",
          "transcript_support_level": null,
          "aa_start": 3852,
          "aa_end": null,
          "aa_length": 3940,
          "cds_start": 11556,
          "cds_end": null,
          "cds_length": 11823,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001386142.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11736C>T",
          "hgvs_p": "p.Ile3912Ile",
          "transcript": "ENST00000673363.1",
          "protein_id": "ENSP00000500539.1",
          "transcript_support_level": null,
          "aa_start": 3912,
          "aa_end": null,
          "aa_length": 3939,
          "cds_start": 11736,
          "cds_end": null,
          "cds_length": 11820,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000673363.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11727C>T",
          "hgvs_p": "p.Ile3909Ile",
          "transcript": "ENST00000672830.1",
          "protein_id": "ENSP00000500222.1",
          "transcript_support_level": null,
          "aa_start": 3909,
          "aa_end": null,
          "aa_length": 3936,
          "cds_start": 11727,
          "cds_end": null,
          "cds_length": 11811,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000672830.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11721C>T",
          "hgvs_p": "p.Ile3907Ile",
          "transcript": "ENST00000672068.1",
          "protein_id": "ENSP00000499902.1",
          "transcript_support_level": null,
          "aa_start": 3907,
          "aa_end": null,
          "aa_length": 3934,
          "cds_start": 11721,
          "cds_end": null,
          "cds_length": 11805,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000672068.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11691C>T",
          "hgvs_p": "p.Ile3897Ile",
          "transcript": "ENST00000264366.10",
          "protein_id": "ENSP00000264366.6",
          "transcript_support_level": 5,
          "aa_start": 3897,
          "aa_end": null,
          "aa_length": 3924,
          "cds_start": 11691,
          "cds_end": null,
          "cds_length": 11775,
          "cdna_start": null,
          "cdna_end": null,
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          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "n.5178C>T",
          "hgvs_p": null,
          "transcript": "ENST00000684730.1",
          "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": "retained_intron",
          "feature": "ENST00000684730.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "n.*1028C>T",
          "hgvs_p": null,
          "transcript": "ENST00000671863.1",
          "protein_id": "ENSP00000500855.1",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000671863.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "n.*1028C>T",
          "hgvs_p": null,
          "transcript": "ENST00000673538.1",
          "protein_id": "ENSP00000500842.1",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000673538.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "n.3735+3575C>T",
          "hgvs_p": null,
          "transcript": "ENST00000683826.1",
          "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": "retained_intron",
          "feature": "ENST00000683826.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "n.3472+207C>T",
          "hgvs_p": null,
          "transcript": "ENST00000684230.1",
          "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": "retained_intron",
          "feature": "ENST00000684230.1"
        }
      ],
      "gene_symbol": "ANK2",
      "gene_hgnc_id": 493,
      "dbsnp": "rs45517840",
      "frequency_reference_population": 0.0025233782,
      "hom_count_reference_population": 55,
      "allele_count_reference_population": 4073,
      "gnomad_exomes_af": 0.0018497,
      "gnomad_genomes_af": 0.00899214,
      "gnomad_exomes_ac": 2704,
      "gnomad_genomes_ac": 1369,
      "gnomad_exomes_homalt": 37,
      "gnomad_genomes_homalt": 18,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.5,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.5,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -2.432,
      "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": -21,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
      "acmg_by_gene": [
        {
          "score": -21,
          "benign_score": 21,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_001386174.1",
          "gene_symbol": "ANK2",
          "hgnc_id": 493,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD,Unknown",
          "hgvs_c": "c.12024C>T",
          "hgvs_p": "p.Ile4008Ile"
        }
      ],
      "clinvar_disease": " ankyrin-B-related,Cardiac arrhythmia,Cardiovascular phenotype,Long QT syndrome,not provided,not specified",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:8",
      "phenotype_combined": "not specified|Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia, ankyrin-B-related|not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}