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GeneBe API Showcase

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

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

Documentation & Advanced Usage

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

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

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

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

All tools documented at:docs.genebe.net

API Request Examples for Variant: 2-3626058-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=3626058&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 3626058,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000349077.9",
      "consequences": [
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.159G>A",
          "hgvs_p": "p.Lys53Lys",
          "transcript": "ENST00000236693.11",
          "protein_id": "ENSP00000236693.7",
          "transcript_support_level": 1,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 268,
          "cds_start": 159,
          "cds_end": null,
          "cds_length": 807,
          "cdna_start": 393,
          "cdna_end": null,
          "cdna_length": 1381,
          "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": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.203-11475G>A",
          "hgvs_p": null,
          "transcript": "NM_024027.5",
          "protein_id": "NP_076932.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 271,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 816,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1425,
          "mane_select": "ENST00000349077.9",
          "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": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.203-11475G>A",
          "hgvs_p": null,
          "transcript": "ENST00000349077.9",
          "protein_id": "ENSP00000339168.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 271,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 816,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1425,
          "mane_select": "NM_024027.5",
          "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": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.202+12676G>A",
          "hgvs_p": null,
          "transcript": "ENST00000382062.6",
          "protein_id": "ENSP00000371494.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 247,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 744,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1633,
          "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": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.125-11475G>A",
          "hgvs_p": null,
          "transcript": "ENST00000403096.7",
          "protein_id": "ENSP00000385130.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 245,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 738,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1557,
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.53-11475G>A",
          "hgvs_p": null,
          "transcript": "ENST00000402794.4",
          "protein_id": "ENSP00000384882.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1134,
          "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": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.124+12676G>A",
          "hgvs_p": null,
          "transcript": "ENST00000402922.2",
          "protein_id": "ENSP00000385653.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1134,
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.53-14220G>A",
          "hgvs_p": null,
          "transcript": "ENST00000404205.5",
          "protein_id": "ENSP00000385827.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 197,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 594,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1062,
          "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": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "n.371-14220G>A",
          "hgvs_p": null,
          "transcript": "ENST00000460971.5",
          "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": 1240,
          "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": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "n.371-11475G>A",
          "hgvs_p": null,
          "transcript": "ENST00000487365.5",
          "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": 1312,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.159G>A",
          "hgvs_p": "p.Lys53Lys",
          "transcript": "NM_199235.3",
          "protein_id": "NP_954705.1",
          "transcript_support_level": null,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 268,
          "cds_start": 159,
          "cds_end": null,
          "cds_length": 807,
          "cdna_start": 330,
          "cdna_end": null,
          "cdna_length": 1504,
          "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": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.245-11475G>A",
          "hgvs_p": null,
          "transcript": "NM_001255985.1",
          "protein_id": "NP_001242914.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 285,
          "cds_start": -4,
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          "cds_length": 858,
          "cdna_start": null,
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          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.245-11475G>A",
          "hgvs_p": null,
          "transcript": "ENST00000418971.6",
          "protein_id": "ENSP00000411770.2",
          "transcript_support_level": 2,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 6,
          "intron_rank": 2,
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          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.131-11475G>A",
          "hgvs_p": null,
          "transcript": "NM_001255982.2",
          "protein_id": "NP_001242911.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1353,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.202+12676G>A",
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          "transcript": "NM_001255983.2",
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        {
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          "intron_rank": 2,
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          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.125-11475G>A",
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          "transcript": "NM_001255986.1",
          "protein_id": "NP_001242915.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "mane_select": null,
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          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.131-14220G>A",
          "hgvs_p": null,
          "transcript": "NM_001255984.2",
          "protein_id": "NP_001242913.1",
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        },
        {
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          ],
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          "gene_symbol": "COLEC11",
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          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.124+12676G>A",
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          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.53-14220G>A",
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          "transcript": "NM_001255989.1",
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          "cds_start": -4,
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          "cdna_length": 1260,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.245-11475G>A",
          "hgvs_p": null,
          "transcript": "ENST00000438814.5",
          "protein_id": "ENSP00000393167.1",
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          "aa_start": null,
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          "cds_length": 370,
          "cdna_start": null,
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          "cdna_length": 581,
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        },
        {
          "aa_ref": null,
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          "protein_coding": false,
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            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "n.203-11475G>A",
          "hgvs_p": null,
          "transcript": "ENST00000416132.5",
          "protein_id": "ENSP00000410919.1",
          "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,
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          "cdna_length": 1378,
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          "feature": null
        },
        {
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          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "n.286-11475G>A",
          "hgvs_p": null,
          "transcript": "NR_045659.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1618,
          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.173-11475G>A",
          "hgvs_p": null,
          "transcript": "XM_005263853.5",
          "protein_id": "XP_005263910.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 261,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 786,
          "cdna_start": null,
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          "cdna_length": 1405,
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        },
        {
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          "protein_coding": true,
          "strand": true,
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            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "COLEC11",
          "gene_hgnc_id": 17213,
          "hgvs_c": "c.244+12676G>A",
          "hgvs_p": null,
          "transcript": "XM_006711897.4",
          "protein_id": "XP_006711960.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 261,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 786,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1405,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "COLEC11",
      "gene_hgnc_id": 17213,
      "dbsnp": "rs10170348",
      "frequency_reference_population": 0.13933808,
      "hom_count_reference_population": 17696,
      "allele_count_reference_population": 224771,
      "gnomad_exomes_af": 0.142354,
      "gnomad_genomes_af": 0.110419,
      "gnomad_exomes_ac": 207952,
      "gnomad_genomes_ac": 16819,
      "gnomad_exomes_homalt": 16420,
      "gnomad_genomes_homalt": 1276,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.949999988079071,
      "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": -0.95,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.502,
      "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": -20,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -20,
          "benign_score": 20,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000349077.9",
          "gene_symbol": "COLEC11",
          "hgnc_id": 17213,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.203-11475G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "not provided,not specified",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:2",
      "phenotype_combined": "not specified|not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}