← Back to variant description

GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 14-73330961-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73330961&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 73330961,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_001005743.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "NM_001005743.2",
          "protein_id": "NP_001005743.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 651,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1956,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3604,
          "mane_select": "ENST00000555238.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000555238.6",
          "protein_id": "ENSP00000451300.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 651,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1956,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3604,
          "mane_select": "NM_001005743.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000557597.5",
          "protein_id": "ENSP00000451117.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 640,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1923,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3547,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000356296.8",
          "protein_id": "ENSP00000348644.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 603,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1812,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3453,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000555394.5",
          "protein_id": "ENSP00000451625.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 603,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1812,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3037,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000554546.5",
          "protein_id": "ENSP00000452416.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 592,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1779,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3607,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000560335.5",
          "protein_id": "ENSP00000453209.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1586,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000555738.6",
          "protein_id": "ENSP00000452069.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 494,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1485,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1553,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000559312.5",
          "protein_id": "ENSP00000452888.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 456,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1371,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1439,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000554521.6",
          "protein_id": "ENSP00000450817.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1406,
          "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": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "n.328-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000554315.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1740,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000355058.7",
          "protein_id": "ENSP00000347169.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 651,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1956,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3342,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "NM_003744.6",
          "protein_id": "NP_003735.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 640,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1923,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3571,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000359560.7",
          "protein_id": "ENSP00000352563.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 640,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1923,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3309,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "NM_001005744.2",
          "protein_id": "NP_001005744.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 603,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1812,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3460,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "NM_001320114.2",
          "protein_id": "NP_001307043.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 603,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1812,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3480,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000535282.5",
          "protein_id": "ENSP00000441258.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 603,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1812,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3198,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "NM_001005745.2",
          "protein_id": "NP_001005745.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 592,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1779,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3427,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000544991.7",
          "protein_id": "ENSP00000446001.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 456,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1371,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2757,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000554394.5",
          "protein_id": "ENSP00000451374.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 257,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 776,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 954,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000555307.5",
          "protein_id": "ENSP00000452357.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 257,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 776,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1039,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.126+24665C>T",
          "hgvs_p": null,
          "transcript": "ENST00000555859.5",
          "protein_id": "ENSP00000451326.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 222,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 671,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 906,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000555987.5",
          "protein_id": "ENSP00000451559.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 79,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 240,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 557,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "c.127-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000554818.5",
          "protein_id": "ENSP00000451959.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 66,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 201,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 552,
          "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": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "n.444-7732C>T",
          "hgvs_p": null,
          "transcript": "ENST00000556112.5",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": 568,
          "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": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NUMB",
          "gene_hgnc_id": 8060,
          "hgvs_c": "n.444-7757C>T",
          "hgvs_p": null,
          "transcript": "ENST00000557774.5",
          "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": 847,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "NUMB",
      "gene_hgnc_id": 8060,
      "dbsnp": "rs12435797",
      "frequency_reference_population": 0.000019745155,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 3,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.0000197452,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 3,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.9900000095367432,
      "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": -0.99,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.916,
      "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": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001005743.2",
          "gene_symbol": "NUMB",
          "hgnc_id": 8060,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.127-7757C>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
}