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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: 18-46483658-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=46483658&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "18",
      "pos": 46483658,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_001384474.1",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.6270G>A",
          "hgvs_p": "p.Arg2090Arg",
          "transcript": "NM_001384474.1",
          "protein_id": "NP_001371403.1",
          "transcript_support_level": null,
          "aa_start": 2090,
          "aa_end": null,
          "aa_length": 2273,
          "cds_start": 6270,
          "cds_end": null,
          "cds_length": 6822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000642948.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001384474.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.6270G>A",
          "hgvs_p": "p.Arg2090Arg",
          "transcript": "ENST00000642948.1",
          "protein_id": "ENSP00000496347.1",
          "transcript_support_level": null,
          "aa_start": 2090,
          "aa_end": null,
          "aa_length": 2273,
          "cds_start": 6270,
          "cds_end": null,
          "cds_length": 6822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001384474.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000642948.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.2937G>A",
          "hgvs_p": "p.Arg979Arg",
          "transcript": "ENST00000300591.11",
          "protein_id": "ENSP00000300591.6",
          "transcript_support_level": 1,
          "aa_start": 979,
          "aa_end": null,
          "aa_length": 1114,
          "cds_start": 2937,
          "cds_end": null,
          "cds_length": 3345,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000300591.11"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.2649G>A",
          "hgvs_p": "p.Arg883Arg",
          "transcript": "ENST00000579038.6",
          "protein_id": "ENSP00000463285.1",
          "transcript_support_level": 1,
          "aa_start": 883,
          "aa_end": null,
          "aa_length": 1011,
          "cds_start": 2649,
          "cds_end": null,
          "cds_length": 3036,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000579038.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.987G>A",
          "hgvs_p": "p.Arg329Arg",
          "transcript": "ENST00000398686.8",
          "protein_id": "ENSP00000381676.4",
          "transcript_support_level": 1,
          "aa_start": 329,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": 987,
          "cds_end": null,
          "cds_length": 1539,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000398686.8"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 39,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.6084G>A",
          "hgvs_p": "p.Arg2028Arg",
          "transcript": "NM_144612.7",
          "protein_id": "NP_653213.6",
          "transcript_support_level": null,
          "aa_start": 2028,
          "aa_end": null,
          "aa_length": 2211,
          "cds_start": 6084,
          "cds_end": null,
          "cds_length": 6636,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_144612.7"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 39,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.6084G>A",
          "hgvs_p": "p.Arg2028Arg",
          "transcript": "ENST00000536736.5",
          "protein_id": "ENSP00000444586.1",
          "transcript_support_level": 5,
          "aa_start": 2028,
          "aa_end": null,
          "aa_length": 2211,
          "cds_start": 6084,
          "cds_end": null,
          "cds_length": 6636,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000536736.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 38,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.5652G>A",
          "hgvs_p": "p.Arg1884Arg",
          "transcript": "ENST00000441551.6",
          "protein_id": "ENSP00000387621.2",
          "transcript_support_level": 5,
          "aa_start": 1884,
          "aa_end": null,
          "aa_length": 2067,
          "cds_start": 5652,
          "cds_end": null,
          "cds_length": 6204,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000441551.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.2937G>A",
          "hgvs_p": "p.Arg979Arg",
          "transcript": "NM_001145472.3",
          "protein_id": "NP_001138944.1",
          "transcript_support_level": null,
          "aa_start": 979,
          "aa_end": null,
          "aa_length": 1114,
          "cds_start": 2937,
          "cds_end": null,
          "cds_length": 3345,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001145472.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.2751G>A",
          "hgvs_p": "p.Arg917Arg",
          "transcript": "ENST00000582408.6",
          "protein_id": "ENSP00000461964.1",
          "transcript_support_level": 2,
          "aa_start": 917,
          "aa_end": null,
          "aa_length": 1100,
          "cds_start": 2751,
          "cds_end": null,
          "cds_length": 3303,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000582408.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.2649G>A",
          "hgvs_p": "p.Arg883Arg",
          "transcript": "NM_001308013.2",
          "protein_id": "NP_001294942.1",
          "transcript_support_level": null,
          "aa_start": 883,
          "aa_end": null,
          "aa_length": 1011,
          "cds_start": 2649,
          "cds_end": null,
          "cds_length": 3036,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001308013.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.987G>A",
          "hgvs_p": "p.Arg329Arg",
          "transcript": "NM_001145473.3",
          "protein_id": "NP_001138945.1",
          "transcript_support_level": null,
          "aa_start": 329,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": 987,
          "cds_end": null,
          "cds_length": 1539,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001145473.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.987G>A",
          "hgvs_p": "p.Arg329Arg",
          "transcript": "NM_001173129.2",
          "protein_id": "NP_001166600.1",
          "transcript_support_level": null,
          "aa_start": 329,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": 987,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001173129.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.987G>A",
          "hgvs_p": "p.Arg329Arg",
          "transcript": "ENST00000398705.7",
          "protein_id": "ENSP00000381692.2",
          "transcript_support_level": 2,
          "aa_start": 329,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": 987,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000398705.7"
        },
        {
          "aa_ref": "R",
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.5226G>A",
          "hgvs_p": "p.Arg1742Arg",
          "transcript": "XM_047437289.1",
          "protein_id": "XP_047293245.1",
          "transcript_support_level": null,
          "aa_start": 1742,
          "aa_end": null,
          "aa_length": 1925,
          "cds_start": 5226,
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          "cds_length": 5778,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047437289.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.4431G>A",
          "hgvs_p": "p.Arg1477Arg",
          "transcript": "XM_011525804.3",
          "protein_id": "XP_011524106.1",
          "transcript_support_level": null,
          "aa_start": 1477,
          "aa_end": null,
          "aa_length": 1660,
          "cds_start": 4431,
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          "cds_length": 4983,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_011525804.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.3069G>A",
          "hgvs_p": "p.Arg1023Arg",
          "transcript": "XM_006722388.4",
          "protein_id": "XP_006722451.1",
          "transcript_support_level": null,
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          "aa_length": 1206,
          "cds_start": 3069,
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        {
          "aa_ref": "R",
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          "protein_coding": true,
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          "consequences": [
            "synonymous_variant"
          ],
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          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.2934G>A",
          "hgvs_p": "p.Arg978Arg",
          "transcript": "XM_024451085.2",
          "protein_id": "XP_024306853.1",
          "transcript_support_level": null,
          "aa_start": 978,
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          "cds_start": 2934,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
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          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.2883G>A",
          "hgvs_p": "p.Arg961Arg",
          "transcript": "XM_006722391.4",
          "protein_id": "XP_006722454.1",
          "transcript_support_level": null,
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          "aa_length": 1144,
          "cds_start": 2883,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_006722391.4"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.2649G>A",
          "hgvs_p": "p.Arg883Arg",
          "transcript": "XM_024451086.2",
          "protein_id": "XP_024306854.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 1066,
          "cds_start": 2649,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024451086.2"
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
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          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.2649G>A",
          "hgvs_p": "p.Arg883Arg",
          "transcript": "XM_024451088.2",
          "protein_id": "XP_024306856.1",
          "transcript_support_level": null,
          "aa_start": 883,
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          "aa_length": 1066,
          "cds_start": 2649,
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          "cds_length": 3201,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_024451088.2"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
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          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.1038G>A",
          "hgvs_p": "p.Arg346Arg",
          "transcript": "XM_011525810.3",
          "protein_id": "XP_011524112.1",
          "transcript_support_level": null,
          "aa_start": 346,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": 1038,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011525810.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.987G>A",
          "hgvs_p": "p.Arg329Arg",
          "transcript": "XM_011525811.3",
          "protein_id": "XP_011524113.1",
          "transcript_support_level": null,
          "aa_start": 329,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": 987,
          "cds_end": null,
          "cds_length": 1539,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011525811.3"
        }
      ],
      "gene_symbol": "LOXHD1",
      "gene_hgnc_id": 26521,
      "dbsnp": "rs367833904",
      "frequency_reference_population": 0.0005716466,
      "hom_count_reference_population": 4,
      "allele_count_reference_population": 887,
      "gnomad_exomes_af": 0.000315836,
      "gnomad_genomes_af": 0.00292386,
      "gnomad_exomes_ac": 442,
      "gnomad_genomes_ac": 445,
      "gnomad_exomes_homalt": 3,
      "gnomad_genomes_homalt": 1,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.33000001311302185,
      "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": -0.33,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.433,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP6,BP7,BS1,BS2",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6",
            "BP7",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_001384474.1",
          "gene_symbol": "LOXHD1",
          "hgnc_id": 26521,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.6270G>A",
          "hgvs_p": "p.Arg2090Arg"
        }
      ],
      "clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 77,not provided,not specified",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "US:1 LB:1 B:2",
      "phenotype_combined": "not specified|not provided|Autosomal recessive nonsyndromic hearing loss 77",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}