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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: 19-18929504-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18929504&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 18929504,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_004838.4",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.1025G>A",
          "hgvs_p": "p.Ser342Asn",
          "transcript": "NM_004838.4",
          "protein_id": "NP_004829.3",
          "transcript_support_level": null,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 1025,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000392351.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004838.4"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.1025G>A",
          "hgvs_p": "p.Ser342Asn",
          "transcript": "ENST00000392351.8",
          "protein_id": "ENSP00000376162.2",
          "transcript_support_level": 1,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 1025,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004838.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000392351.8"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.1025G>A",
          "hgvs_p": "p.Ser342Asn",
          "transcript": "ENST00000539827.5",
          "protein_id": "ENSP00000439937.1",
          "transcript_support_level": 1,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 1025,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000539827.5"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.1025G>A",
          "hgvs_p": "p.Ser342Asn",
          "transcript": "ENST00000542541.6",
          "protein_id": "ENSP00000446026.1",
          "transcript_support_level": 1,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 1025,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000542541.6"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.917G>A",
          "hgvs_p": "p.Ser306Asn",
          "transcript": "ENST00000594439.5",
          "protein_id": "ENSP00000471835.1",
          "transcript_support_level": 1,
          "aa_start": 306,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": 917,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000594439.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000268193",
          "gene_hgnc_id": null,
          "hgvs_c": "n.*167+1821G>A",
          "hgvs_p": null,
          "transcript": "ENST00000596918.5",
          "protein_id": "ENSP00000469669.1",
          "transcript_support_level": 5,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000596918.5"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.1025G>A",
          "hgvs_p": "p.Ser342Asn",
          "transcript": "NM_001145722.2",
          "protein_id": "NP_001139194.1",
          "transcript_support_level": null,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 1025,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001145722.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.1025G>A",
          "hgvs_p": "p.Ser342Asn",
          "transcript": "ENST00000861160.1",
          "protein_id": "ENSP00000531219.1",
          "transcript_support_level": null,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 1025,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000861160.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.1025G>A",
          "hgvs_p": "p.Ser342Asn",
          "transcript": "ENST00000861162.1",
          "protein_id": "ENSP00000531221.1",
          "transcript_support_level": null,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 1025,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000861162.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.1025G>A",
          "hgvs_p": "p.Ser342Asn",
          "transcript": "ENST00000936392.1",
          "protein_id": "ENSP00000606451.1",
          "transcript_support_level": null,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 1025,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936392.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.1025G>A",
          "hgvs_p": "p.Ser342Asn",
          "transcript": "ENST00000936393.1",
          "protein_id": "ENSP00000606452.1",
          "transcript_support_level": null,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 1025,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936393.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.1025G>A",
          "hgvs_p": "p.Ser342Asn",
          "transcript": "ENST00000971945.1",
          "protein_id": "ENSP00000642004.1",
          "transcript_support_level": null,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 1025,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000971945.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.1022G>A",
          "hgvs_p": "p.Ser341Asn",
          "transcript": "ENST00000861161.1",
          "protein_id": "ENSP00000531220.1",
          "transcript_support_level": null,
          "aa_start": 341,
          "aa_end": null,
          "aa_length": 360,
          "cds_start": 1022,
          "cds_end": null,
          "cds_length": 1083,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000861161.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.1016G>A",
          "hgvs_p": "p.Ser339Asn",
          "transcript": "NM_001145721.1",
          "protein_id": "NP_001139193.1",
          "transcript_support_level": null,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 358,
          "cds_start": 1016,
          "cds_end": null,
          "cds_length": 1077,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001145721.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.1016G>A",
          "hgvs_p": "p.Ser339Asn",
          "transcript": "ENST00000221222.15",
          "protein_id": "ENSP00000221222.11",
          "transcript_support_level": 5,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 358,
          "cds_start": 1016,
          "cds_end": null,
          "cds_length": 1077,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000221222.15"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.1016G>A",
          "hgvs_p": "p.Ser339Asn",
          "transcript": "ENST00000433218.6",
          "protein_id": "ENSP00000396154.2",
          "transcript_support_level": 5,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 358,
          "cds_start": 1016,
          "cds_end": null,
          "cds_length": 1077,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000433218.6"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.1007G>A",
          "hgvs_p": "p.Ser336Asn",
          "transcript": "ENST00000971944.1",
          "protein_id": "ENSP00000642003.1",
          "transcript_support_level": null,
          "aa_start": 336,
          "aa_end": null,
          "aa_length": 355,
          "cds_start": 1007,
          "cds_end": null,
          "cds_length": 1068,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000971944.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.968G>A",
          "hgvs_p": "p.Ser323Asn",
          "transcript": "ENST00000971943.1",
          "protein_id": "ENSP00000642002.1",
          "transcript_support_level": null,
          "aa_start": 323,
          "aa_end": null,
          "aa_length": 342,
          "cds_start": 968,
          "cds_end": null,
          "cds_length": 1029,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000971943.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.917G>A",
          "hgvs_p": "p.Ser306Asn",
          "transcript": "NM_001145724.1",
          "protein_id": "NP_001139196.1",
          "transcript_support_level": null,
          "aa_start": 306,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": 917,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001145724.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.398G>A",
          "hgvs_p": "p.Ser133Asn",
          "transcript": "ENST00000594794.5",
          "protein_id": "ENSP00000469800.1",
          "transcript_support_level": 5,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 152,
          "cds_start": 398,
          "cds_end": null,
          "cds_length": 459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000594794.5"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "c.1025G>A",
          "hgvs_p": "p.Ser342Asn",
          "transcript": "XM_047439733.1",
          "protein_id": "XP_047295689.1",
          "transcript_support_level": null,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 1025,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047439733.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HOMER3",
          "gene_hgnc_id": 17514,
          "hgvs_c": "n.1678G>A",
          "hgvs_p": null,
          "transcript": "NR_027297.1",
          "protein_id": null,
          "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,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "NR_027297.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000268193",
          "gene_hgnc_id": null,
          "hgvs_c": "n.*167+1821G>A",
          "hgvs_p": null,
          "transcript": "ENST00000593484.1",
          "protein_id": "ENSP00000471765.1",
          "transcript_support_level": 5,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000593484.1"
        }
      ],
      "gene_symbol": "HOMER3",
      "gene_hgnc_id": 17514,
      "dbsnp": null,
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.09940102696418762,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.05999999865889549,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.116,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1534,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.67,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 4.51,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.06,
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_004838.4",
          "gene_symbol": "HOMER3",
          "hgnc_id": 17514,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1025G>A",
          "hgvs_p": "p.Ser342Asn"
        },
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000596918.5",
          "gene_symbol": "ENSG00000268193",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.*167+1821G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}