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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: 3-15474925-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15474925&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 15474925,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant,splice_region_variant",
      "transcript": "NM_005677.4",
      "consequences": [
        {
          "aa_ref": "K",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "c.555G>T",
          "hgvs_p": "p.Lys185Asn",
          "transcript": "NM_005677.4",
          "protein_id": "NP_005668.2",
          "transcript_support_level": null,
          "aa_start": 185,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": 555,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000383788.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005677.4"
        },
        {
          "aa_ref": "K",
          "aa_alt": "N",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "c.555G>T",
          "hgvs_p": "p.Lys185Asn",
          "transcript": "ENST00000383788.10",
          "protein_id": "ENSP00000373298.3",
          "transcript_support_level": 1,
          "aa_start": 185,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": 555,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_005677.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000383788.10"
        },
        {
          "aa_ref": "K",
          "aa_alt": "N",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "c.555G>T",
          "hgvs_p": "p.Lys185Asn",
          "transcript": "ENST00000603808.5",
          "protein_id": "ENSP00000474271.1",
          "transcript_support_level": 1,
          "aa_start": 185,
          "aa_end": null,
          "aa_length": 456,
          "cds_start": 555,
          "cds_end": null,
          "cds_length": 1371,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000603808.5"
        },
        {
          "aa_ref": "K",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "c.555G>T",
          "hgvs_p": "p.Lys185Asn",
          "transcript": "ENST00000874202.1",
          "protein_id": "ENSP00000544261.1",
          "transcript_support_level": null,
          "aa_start": 185,
          "aa_end": null,
          "aa_length": 460,
          "cds_start": 555,
          "cds_end": null,
          "cds_length": 1383,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000874202.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "c.555G>T",
          "hgvs_p": "p.Lys185Asn",
          "transcript": "ENST00000959102.1",
          "protein_id": "ENSP00000629161.1",
          "transcript_support_level": null,
          "aa_start": 185,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": 555,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000959102.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "c.555G>T",
          "hgvs_p": "p.Lys185Asn",
          "transcript": "ENST00000959107.1",
          "protein_id": "ENSP00000629166.1",
          "transcript_support_level": null,
          "aa_start": 185,
          "aa_end": null,
          "aa_length": 448,
          "cds_start": 555,
          "cds_end": null,
          "cds_length": 1347,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000959107.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "c.528G>T",
          "hgvs_p": "p.Lys176Asn",
          "transcript": "ENST00000874203.1",
          "protein_id": "ENSP00000544262.1",
          "transcript_support_level": null,
          "aa_start": 176,
          "aa_end": null,
          "aa_length": 446,
          "cds_start": 528,
          "cds_end": null,
          "cds_length": 1341,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000874203.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "c.525G>T",
          "hgvs_p": "p.Lys175Asn",
          "transcript": "NM_080538.2",
          "protein_id": "NP_536799.1",
          "transcript_support_level": null,
          "aa_start": 175,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 525,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_080538.2"
        },
        {
          "aa_ref": "K",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "c.525G>T",
          "hgvs_p": "p.Lys175Asn",
          "transcript": "ENST00000383781.8",
          "protein_id": "ENSP00000373291.3",
          "transcript_support_level": 5,
          "aa_start": 175,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 525,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000383781.8"
        },
        {
          "aa_ref": "K",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "c.528G>T",
          "hgvs_p": "p.Lys176Asn",
          "transcript": "ENST00000874205.1",
          "protein_id": "ENSP00000544264.1",
          "transcript_support_level": null,
          "aa_start": 176,
          "aa_end": null,
          "aa_length": 439,
          "cds_start": 528,
          "cds_end": null,
          "cds_length": 1320,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000874205.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "c.456G>T",
          "hgvs_p": "p.Lys152Asn",
          "transcript": "ENST00000874204.1",
          "protein_id": "ENSP00000544263.1",
          "transcript_support_level": null,
          "aa_start": 152,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": 456,
          "cds_end": null,
          "cds_length": 1269,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000874204.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "c.453G>T",
          "hgvs_p": "p.Lys151Asn",
          "transcript": "NM_080539.4",
          "protein_id": "NP_536800.2",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 421,
          "cds_start": 453,
          "cds_end": null,
          "cds_length": 1266,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_080539.4"
        },
        {
          "aa_ref": "K",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "c.453G>T",
          "hgvs_p": "p.Lys151Asn",
          "transcript": "ENST00000383786.9",
          "protein_id": "ENSP00000373296.3",
          "transcript_support_level": 5,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 421,
          "cds_start": 453,
          "cds_end": null,
          "cds_length": 1266,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000383786.9"
        },
        {
          "aa_ref": "K",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "c.393G>T",
          "hgvs_p": "p.Lys131Asn",
          "transcript": "ENST00000959106.1",
          "protein_id": "ENSP00000629165.1",
          "transcript_support_level": null,
          "aa_start": 131,
          "aa_end": null,
          "aa_length": 401,
          "cds_start": 393,
          "cds_end": null,
          "cds_length": 1206,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000959106.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "c.354G>T",
          "hgvs_p": "p.Lys118Asn",
          "transcript": "ENST00000959105.1",
          "protein_id": "ENSP00000629164.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 388,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 1167,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000959105.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "c.354G>T",
          "hgvs_p": "p.Lys118Asn",
          "transcript": "ENST00000959103.1",
          "protein_id": "ENSP00000629162.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 378,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 1137,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000959103.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "c.555G>T",
          "hgvs_p": "p.Lys185Asn",
          "transcript": "ENST00000959104.1",
          "protein_id": "ENSP00000629163.1",
          "transcript_support_level": null,
          "aa_start": 185,
          "aa_end": null,
          "aa_length": 328,
          "cds_start": 555,
          "cds_end": null,
          "cds_length": 987,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000959104.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "c.384G>T",
          "hgvs_p": "p.Lys128Asn",
          "transcript": "ENST00000605797.1",
          "protein_id": "ENSP00000474936.1",
          "transcript_support_level": 4,
          "aa_start": 128,
          "aa_end": null,
          "aa_length": 193,
          "cds_start": 384,
          "cds_end": null,
          "cds_length": 582,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000605797.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "n.551G>T",
          "hgvs_p": null,
          "transcript": "ENST00000604401.2",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000604401.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "n.*317G>T",
          "hgvs_p": null,
          "transcript": "ENST00000679838.1",
          "protein_id": "ENSP00000505708.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000679838.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "n.321G>T",
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          "transcript": "ENST00000680545.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000680545.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "n.555G>T",
          "hgvs_p": null,
          "transcript": "ENST00000681097.1",
          "protein_id": "ENSP00000505397.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000681097.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLQ",
          "gene_hgnc_id": 2226,
          "hgvs_c": "n.*317G>T",
          "hgvs_p": null,
          "transcript": "ENST00000679838.1",
          "protein_id": "ENSP00000505708.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000679838.1"
        }
      ],
      "gene_symbol": "COLQ",
      "gene_hgnc_id": 2226,
      "dbsnp": "rs750472473",
      "frequency_reference_population": 0.0000024783117,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 4,
      "gnomad_exomes_af": 0.00000205225,
      "gnomad_genomes_af": 0.00000657056,
      "gnomad_exomes_ac": 3,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.6175855994224548,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.9940000176429749,
      "splice_prediction_selected": "Pathogenic",
      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": 0.637,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.7073,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.01,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 6.042,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.88,
      "spliceai_max_prediction": "Pathogenic",
      "dbscsnv_ada_score": 0.999991508441075,
      "dbscsnv_ada_prediction": "Pathogenic",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 7,
      "acmg_classification": "Likely_pathogenic",
      "acmg_criteria": "PM2,PP2,PP3_Strong",
      "acmg_by_gene": [
        {
          "score": 7,
          "benign_score": 0,
          "pathogenic_score": 7,
          "criteria": [
            "PM2",
            "PP2",
            "PP3_Strong"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "NM_005677.4",
          "gene_symbol": "COLQ",
          "hgnc_id": 2226,
          "effects": [
            "missense_variant",
            "splice_region_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.555G>T",
          "hgvs_p": "p.Lys185Asn"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}