← 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: 5-158748661-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=158748661&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 158748661,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000313708.11",
      "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": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.1037-17504A>G",
          "hgvs_p": null,
          "transcript": "NM_024007.5",
          "protein_id": "NP_076870.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 591,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1776,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5405,
          "mane_select": "ENST00000313708.11",
          "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": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.1037-17504A>G",
          "hgvs_p": null,
          "transcript": "ENST00000313708.11",
          "protein_id": "ENSP00000322898.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 591,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1776,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5405,
          "mane_select": "NM_024007.5",
          "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": 15,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.944-17504A>G",
          "hgvs_p": null,
          "transcript": "ENST00000380654.8",
          "protein_id": "ENSP00000370029.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 560,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1683,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2345,
          "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": 17,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.1040-17504A>G",
          "hgvs_p": null,
          "transcript": "NM_001324101.2",
          "protein_id": "NP_001311030.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5477,
          "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": 17,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.1037-17504A>G",
          "hgvs_p": null,
          "transcript": "NM_001324103.2",
          "protein_id": "NP_001311032.1",
          "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": 5474,
          "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": 17,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.1013-17504A>G",
          "hgvs_p": null,
          "transcript": "NM_001324106.2",
          "protein_id": "NP_001311035.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 595,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1788,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5450,
          "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": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.1040-17504A>G",
          "hgvs_p": null,
          "transcript": "NM_001290360.3",
          "protein_id": "NP_001277289.1",
          "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": 5408,
          "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": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.1016-17504A>G",
          "hgvs_p": null,
          "transcript": "NM_001324107.2",
          "protein_id": "NP_001311036.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 584,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1755,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5384,
          "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": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.1013-17504A>G",
          "hgvs_p": null,
          "transcript": "NM_001324108.2",
          "protein_id": "NP_001311037.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 583,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1752,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5381,
          "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": 17,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.926-17504A>G",
          "hgvs_p": null,
          "transcript": "NM_001364157.2",
          "protein_id": "NP_001351086.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 566,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1701,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5637,
          "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": 15,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.944-17504A>G",
          "hgvs_p": null,
          "transcript": "NM_182708.3",
          "protein_id": "NP_874367.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 560,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1683,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5312,
          "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": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.923-17504A>G",
          "hgvs_p": null,
          "transcript": "NM_001364156.2",
          "protein_id": "NP_001351085.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 553,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1662,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5565,
          "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": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.1040-17504A>G",
          "hgvs_p": null,
          "transcript": "NM_001324109.2",
          "protein_id": "NP_001311038.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 544,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5297,
          "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": 15,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.1037-17504A>G",
          "hgvs_p": null,
          "transcript": "NM_001364155.2",
          "protein_id": "NP_001351084.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 531,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5089,
          "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": 15,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.1013-17504A>G",
          "hgvs_p": null,
          "transcript": "ENST00000517373.1",
          "protein_id": "ENSP00000428020.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 523,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1572,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2277,
          "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": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.641-17504A>G",
          "hgvs_p": null,
          "transcript": "NM_001324111.2",
          "protein_id": "NP_001311040.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 459,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1380,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5503,
          "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": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.638-17504A>G",
          "hgvs_p": null,
          "transcript": "NM_001364159.2",
          "protein_id": "NP_001351088.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 458,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1377,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5360,
          "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": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.614-17504A>G",
          "hgvs_p": null,
          "transcript": "NM_001364158.2",
          "protein_id": "NP_001351087.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 450,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1353,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5336,
          "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": 17,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "n.1197-17504A>G",
          "hgvs_p": null,
          "transcript": "ENST00000518836.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": 5127,
          "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": 14,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "n.805-17504A>G",
          "hgvs_p": null,
          "transcript": "ENST00000519739.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": 4735,
          "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": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "n.765-17504A>G",
          "hgvs_p": null,
          "transcript": "ENST00000519890.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": 4695,
          "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": 14,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "n.946-17504A>G",
          "hgvs_p": null,
          "transcript": "ENST00000522192.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": 1911,
          "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": 5,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "n.653-17504A>G",
          "hgvs_p": null,
          "transcript": "ENST00000523464.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 766,
          "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": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.1016-17504A>G",
          "hgvs_p": null,
          "transcript": "XM_017009194.2",
          "protein_id": "XP_016864683.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1791,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2230,
          "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": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.923-17504A>G",
          "hgvs_p": null,
          "transcript": "XM_017009197.2",
          "protein_id": "XP_016864686.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 565,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1698,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2411,
          "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": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.899-17504A>G",
          "hgvs_p": null,
          "transcript": "XM_047416888.1",
          "protein_id": "XP_047272844.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2387,
          "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": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.926-17504A>G",
          "hgvs_p": null,
          "transcript": "XM_047416889.1",
          "protein_id": "XP_047272845.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 554,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1665,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5568,
          "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": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.899-17504A>G",
          "hgvs_p": null,
          "transcript": "XM_047416890.1",
          "protein_id": "XP_047272846.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 545,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1638,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5541,
          "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": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.641-17504A>G",
          "hgvs_p": null,
          "transcript": "XM_024454390.2",
          "protein_id": "XP_024310158.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 471,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1416,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2209,
          "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": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.641-17504A>G",
          "hgvs_p": null,
          "transcript": "XM_024454391.2",
          "protein_id": "XP_024310159.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 471,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1416,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1829,
          "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": 5,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.419-17504A>G",
          "hgvs_p": null,
          "transcript": "XM_017009199.2",
          "protein_id": "XP_016864688.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 397,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1194,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2451,
          "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": 5,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.419-17504A>G",
          "hgvs_p": null,
          "transcript": "XM_017009200.3",
          "protein_id": "XP_016864689.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 397,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1194,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 15639,
          "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": 5,
          "intron_rank_end": null,
          "gene_symbol": "EBF1",
          "gene_hgnc_id": 3126,
          "hgvs_c": "c.419-17504A>G",
          "hgvs_p": null,
          "transcript": "XM_047416891.1",
          "protein_id": "XP_047272847.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 385,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1158,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 18793,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "EBF1",
      "gene_hgnc_id": 3126,
      "dbsnp": "rs13170526",
      "frequency_reference_population": 0.000006573066,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.00000657307,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8199999928474426,
      "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": -0.82,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.499,
      "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": "ENST00000313708.11",
          "gene_symbol": "EBF1",
          "hgnc_id": 3126,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1037-17504A>G",
          "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
}