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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: 18-46477832-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=46477832&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "18",
      "pos": 46477832,
      "ref": "G",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "NM_001384474.1",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.6462C>G",
          "hgvs_p": "p.Val2154Val",
          "transcript": "NM_001384474.1",
          "protein_id": "NP_001371403.1",
          "transcript_support_level": null,
          "aa_start": 2154,
          "aa_end": null,
          "aa_length": 2273,
          "cds_start": 6462,
          "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": "V",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.6462C>G",
          "hgvs_p": "p.Val2154Val",
          "transcript": "ENST00000642948.1",
          "protein_id": "ENSP00000496347.1",
          "transcript_support_level": null,
          "aa_start": 2154,
          "aa_end": null,
          "aa_length": 2273,
          "cds_start": 6462,
          "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": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.3129C>G",
          "hgvs_p": "p.Val1043Val",
          "transcript": "ENST00000300591.11",
          "protein_id": "ENSP00000300591.6",
          "transcript_support_level": 1,
          "aa_start": 1043,
          "aa_end": null,
          "aa_length": 1114,
          "cds_start": 3129,
          "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": "V",
          "aa_alt": "V",
          "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.2841C>G",
          "hgvs_p": "p.Val947Val",
          "transcript": "ENST00000579038.6",
          "protein_id": "ENSP00000463285.1",
          "transcript_support_level": 1,
          "aa_start": 947,
          "aa_end": null,
          "aa_length": 1011,
          "cds_start": 2841,
          "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": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.1179C>G",
          "hgvs_p": "p.Val393Val",
          "transcript": "ENST00000398686.8",
          "protein_id": "ENSP00000381676.4",
          "transcript_support_level": 1,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": 1179,
          "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": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.6276C>G",
          "hgvs_p": "p.Val2092Val",
          "transcript": "NM_144612.7",
          "protein_id": "NP_653213.6",
          "transcript_support_level": null,
          "aa_start": 2092,
          "aa_end": null,
          "aa_length": 2211,
          "cds_start": 6276,
          "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": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.6276C>G",
          "hgvs_p": "p.Val2092Val",
          "transcript": "ENST00000536736.5",
          "protein_id": "ENSP00000444586.1",
          "transcript_support_level": 5,
          "aa_start": 2092,
          "aa_end": null,
          "aa_length": 2211,
          "cds_start": 6276,
          "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": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 39,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.5844C>G",
          "hgvs_p": "p.Val1948Val",
          "transcript": "ENST00000441551.6",
          "protein_id": "ENSP00000387621.2",
          "transcript_support_level": 5,
          "aa_start": 1948,
          "aa_end": null,
          "aa_length": 2067,
          "cds_start": 5844,
          "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": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.3129C>G",
          "hgvs_p": "p.Val1043Val",
          "transcript": "NM_001145472.3",
          "protein_id": "NP_001138944.1",
          "transcript_support_level": null,
          "aa_start": 1043,
          "aa_end": null,
          "aa_length": 1114,
          "cds_start": 3129,
          "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": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.2943C>G",
          "hgvs_p": "p.Val981Val",
          "transcript": "ENST00000582408.6",
          "protein_id": "ENSP00000461964.1",
          "transcript_support_level": 2,
          "aa_start": 981,
          "aa_end": null,
          "aa_length": 1100,
          "cds_start": 2943,
          "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": "V",
          "aa_alt": "V",
          "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.2841C>G",
          "hgvs_p": "p.Val947Val",
          "transcript": "NM_001308013.2",
          "protein_id": "NP_001294942.1",
          "transcript_support_level": null,
          "aa_start": 947,
          "aa_end": null,
          "aa_length": 1011,
          "cds_start": 2841,
          "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": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.1179C>G",
          "hgvs_p": "p.Val393Val",
          "transcript": "NM_001145473.3",
          "protein_id": "NP_001138945.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": 1179,
          "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": "NM_001145473.3"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.1179C>G",
          "hgvs_p": "p.Val393Val",
          "transcript": "NM_001173129.2",
          "protein_id": "NP_001166600.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001173129.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.1179C>G",
          "hgvs_p": "p.Val393Val",
          "transcript": "ENST00000398705.7",
          "protein_id": "ENSP00000381692.2",
          "transcript_support_level": 2,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000398705.7"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.5418C>G",
          "hgvs_p": "p.Val1806Val",
          "transcript": "XM_047437289.1",
          "protein_id": "XP_047293245.1",
          "transcript_support_level": null,
          "aa_start": 1806,
          "aa_end": null,
          "aa_length": 1925,
          "cds_start": 5418,
          "cds_end": null,
          "cds_length": 5778,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047437289.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.4623C>G",
          "hgvs_p": "p.Val1541Val",
          "transcript": "XM_011525804.3",
          "protein_id": "XP_011524106.1",
          "transcript_support_level": null,
          "aa_start": 1541,
          "aa_end": null,
          "aa_length": 1660,
          "cds_start": 4623,
          "cds_end": null,
          "cds_length": 4983,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011525804.3"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.3261C>G",
          "hgvs_p": "p.Val1087Val",
          "transcript": "XM_006722388.4",
          "protein_id": "XP_006722451.1",
          "transcript_support_level": null,
          "aa_start": 1087,
          "aa_end": null,
          "aa_length": 1206,
          "cds_start": 3261,
          "cds_end": null,
          "cds_length": 3621,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_006722388.4"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.3126C>G",
          "hgvs_p": "p.Val1042Val",
          "transcript": "XM_024451085.2",
          "protein_id": "XP_024306853.1",
          "transcript_support_level": null,
          "aa_start": 1042,
          "aa_end": null,
          "aa_length": 1161,
          "cds_start": 3126,
          "cds_end": null,
          "cds_length": 3486,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024451085.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.3075C>G",
          "hgvs_p": "p.Val1025Val",
          "transcript": "XM_006722391.4",
          "protein_id": "XP_006722454.1",
          "transcript_support_level": null,
          "aa_start": 1025,
          "aa_end": null,
          "aa_length": 1144,
          "cds_start": 3075,
          "cds_end": null,
          "cds_length": 3435,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_006722391.4"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.2841C>G",
          "hgvs_p": "p.Val947Val",
          "transcript": "XM_024451086.2",
          "protein_id": "XP_024306854.1",
          "transcript_support_level": null,
          "aa_start": 947,
          "aa_end": null,
          "aa_length": 1066,
          "cds_start": 2841,
          "cds_end": null,
          "cds_length": 3201,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024451086.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
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          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.2841C>G",
          "hgvs_p": "p.Val947Val",
          "transcript": "XM_024451088.2",
          "protein_id": "XP_024306856.1",
          "transcript_support_level": null,
          "aa_start": 947,
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          "aa_length": 1066,
          "cds_start": 2841,
          "cds_end": null,
          "cds_length": 3201,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024451088.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.1230C>G",
          "hgvs_p": "p.Val410Val",
          "transcript": "XM_011525810.3",
          "protein_id": "XP_011524112.1",
          "transcript_support_level": null,
          "aa_start": 410,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": 1230,
          "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": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.1179C>G",
          "hgvs_p": "p.Val393Val",
          "transcript": "XM_011525811.3",
          "protein_id": "XP_011524113.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": 1179,
          "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"
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      ],
      "gene_symbol": "LOXHD1",
      "gene_hgnc_id": 26521,
      "dbsnp": "rs141737883",
      "frequency_reference_population": 0.000077972356,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 121,
      "gnomad_exomes_af": 0.0000685976,
      "gnomad_genomes_af": 0.000164079,
      "gnomad_exomes_ac": 96,
      "gnomad_genomes_ac": 25,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.4699999988079071,
      "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": -0.47,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 2.842,
      "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": -6,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Strong,BP6,BP7",
      "acmg_by_gene": [
        {
          "score": -6,
          "benign_score": 6,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001384474.1",
          "gene_symbol": "LOXHD1",
          "hgnc_id": 26521,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.6462C>G",
          "hgvs_p": "p.Val2154Val"
        }
      ],
      "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: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
}