← 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: 1-23028384-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23028384&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 23028384,
      "ref": "T",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000400181.9",
      "consequences": [
        {
          "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": 21,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "NM_001009999.3",
          "protein_id": "NP_001009999.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 876,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2631,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3085,
          "mane_select": "ENST00000400181.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000400181.9",
          "protein_id": "ENSP00000383042.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 876,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2631,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3085,
          "mane_select": "NM_001009999.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000356634.7",
          "protein_id": "ENSP00000349049.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 852,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2559,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3033,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "NM_001410762.1",
          "protein_id": "NP_001397691.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 878,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2637,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3091,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000685102.1",
          "protein_id": "ENSP00000509257.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 878,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2637,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3099,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "NM_001363654.2",
          "protein_id": "NP_001350583.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 858,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2577,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3031,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000465864.2",
          "protein_id": "ENSP00000473297.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 858,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2577,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3039,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "NM_015013.4",
          "protein_id": "NP_055828.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 852,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2559,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3013,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000691404.1",
          "protein_id": "ENSP00000509252.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 840,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2523,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3853,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000692975.1",
          "protein_id": "ENSP00000509892.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 820,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2463,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3793,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "NM_001410763.1",
          "protein_id": "NP_001397692.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 802,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2409,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3742,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000691682.1",
          "protein_id": "ENSP00000509679.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 802,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2409,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3710,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000690627.1",
          "protein_id": "ENSP00000508820.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 794,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2385,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2847,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000692853.1",
          "protein_id": "ENSP00000509649.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 790,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2373,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2835,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000686771.1",
          "protein_id": "ENSP00000510484.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 774,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2325,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2787,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000686270.1",
          "protein_id": "ENSP00000509279.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 771,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2316,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2778,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000692056.1",
          "protein_id": "ENSP00000509505.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 757,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2274,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2736,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000692209.1",
          "protein_id": "ENSP00000510201.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 729,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2190,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2652,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000693156.1",
          "protein_id": "ENSP00000510144.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 700,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2103,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2673,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000686339.1",
          "protein_id": "ENSP00000510111.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 684,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2055,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2483,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000688680.1",
          "protein_id": "ENSP00000509483.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 586,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1761,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3984,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000691694.1",
          "protein_id": "ENSP00000509771.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 582,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1749,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2797,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000240553",
          "gene_hgnc_id": null,
          "hgvs_c": "n.262-7833A>T",
          "hgvs_p": null,
          "transcript": "ENST00000427154.1",
          "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": 666,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "n.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000686934.1",
          "protein_id": "ENSP00000510751.1",
          "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": 2946,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "n.506-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000687202.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5783,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "n.506-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000688122.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4650,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "n.506-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000688235.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5004,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "n.506-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000689366.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5154,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "n.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000689853.1",
          "protein_id": "ENSP00000510653.1",
          "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": 3006,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "n.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000691256.1",
          "protein_id": "ENSP00000510513.1",
          "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": 5786,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "n.352-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000691813.1",
          "protein_id": "ENSP00000510547.1",
          "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": 2532,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "n.506-2085T>A",
          "hgvs_p": null,
          "transcript": "ENST00000692214.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4254,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "XM_005245786.3",
          "protein_id": "XP_005245843.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 872,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2619,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3073,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "XM_006710473.4",
          "protein_id": "XP_006710536.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 828,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2487,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3820,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "XM_017000716.2",
          "protein_id": "XP_016856205.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 822,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2469,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3802,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1A",
          "gene_hgnc_id": 29079,
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null,
          "transcript": "XM_047449677.1",
          "protein_id": "XP_047305633.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 808,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2427,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3760,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "KDM1A",
      "gene_hgnc_id": 29079,
      "dbsnp": "rs7548692",
      "frequency_reference_population": 0.30853415,
      "hom_count_reference_population": 7303,
      "allele_count_reference_population": 46941,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.308534,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 46941,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 7303,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.7599999904632568,
      "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": -0.76,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.223,
      "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": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000400181.9",
          "gene_symbol": "KDM1A",
          "hgnc_id": 29079,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.352-2085T>A",
          "hgvs_p": null
        },
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000427154.1",
          "gene_symbol": "ENSG00000240553",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.262-7833A>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}