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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: 11-610277-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=610277&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 610277,
      "ref": "T",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001286581.2",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4346T>A",
          "hgvs_p": "p.Val1449Glu",
          "transcript": "NM_001286581.2",
          "protein_id": "NP_001273510.1",
          "transcript_support_level": null,
          "aa_start": 1449,
          "aa_end": null,
          "aa_length": 1649,
          "cds_start": 4346,
          "cds_end": null,
          "cds_length": 4950,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000264555.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286581.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4346T>A",
          "hgvs_p": "p.Val1449Glu",
          "transcript": "ENST00000264555.10",
          "protein_id": "ENSP00000264555.5",
          "transcript_support_level": 1,
          "aa_start": 1449,
          "aa_end": null,
          "aa_length": 1649,
          "cds_start": 4346,
          "cds_end": null,
          "cds_length": 4950,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001286581.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000264555.10"
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4343T>A",
          "hgvs_p": "p.Val1448Glu",
          "transcript": "ENST00000416188.3",
          "protein_id": "ENSP00000410626.2",
          "transcript_support_level": 1,
          "aa_start": 1448,
          "aa_end": null,
          "aa_length": 1648,
          "cds_start": 4343,
          "cds_end": null,
          "cds_length": 4947,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000416188.3"
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4340T>A",
          "hgvs_p": "p.Val1447Glu",
          "transcript": "ENST00000413872.6",
          "protein_id": "ENSP00000388589.2",
          "transcript_support_level": 1,
          "aa_start": 1447,
          "aa_end": null,
          "aa_length": 1647,
          "cds_start": 4340,
          "cds_end": null,
          "cds_length": 4944,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000413872.6"
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4334T>A",
          "hgvs_p": "p.Val1445Glu",
          "transcript": "ENST00000533464.5",
          "protein_id": "ENSP00000431870.1",
          "transcript_support_level": 1,
          "aa_start": 1445,
          "aa_end": null,
          "aa_length": 1645,
          "cds_start": 4334,
          "cds_end": null,
          "cds_length": 4938,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000533464.5"
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4346T>A",
          "hgvs_p": "p.Val1449Glu",
          "transcript": "ENST00000919859.1",
          "protein_id": "ENSP00000589918.1",
          "transcript_support_level": null,
          "aa_start": 1449,
          "aa_end": null,
          "aa_length": 1664,
          "cds_start": 4346,
          "cds_end": null,
          "cds_length": 4995,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000919859.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4346T>A",
          "hgvs_p": "p.Val1449Glu",
          "transcript": "ENST00000941193.1",
          "protein_id": "ENSP00000611252.1",
          "transcript_support_level": null,
          "aa_start": 1449,
          "aa_end": null,
          "aa_length": 1649,
          "cds_start": 4346,
          "cds_end": null,
          "cds_length": 4950,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000941193.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4343T>A",
          "hgvs_p": "p.Val1448Glu",
          "transcript": "NM_020901.4",
          "protein_id": "NP_065952.2",
          "transcript_support_level": null,
          "aa_start": 1448,
          "aa_end": null,
          "aa_length": 1648,
          "cds_start": 4343,
          "cds_end": null,
          "cds_length": 4947,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_020901.4"
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4343T>A",
          "hgvs_p": "p.Val1448Glu",
          "transcript": "ENST00000858731.1",
          "protein_id": "ENSP00000528790.1",
          "transcript_support_level": null,
          "aa_start": 1448,
          "aa_end": null,
          "aa_length": 1648,
          "cds_start": 4343,
          "cds_end": null,
          "cds_length": 4947,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858731.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4343T>A",
          "hgvs_p": "p.Val1448Glu",
          "transcript": "ENST00000858740.1",
          "protein_id": "ENSP00000528799.1",
          "transcript_support_level": null,
          "aa_start": 1448,
          "aa_end": null,
          "aa_length": 1648,
          "cds_start": 4343,
          "cds_end": null,
          "cds_length": 4947,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858740.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4340T>A",
          "hgvs_p": "p.Val1447Glu",
          "transcript": "NM_001286582.2",
          "protein_id": "NP_001273511.1",
          "transcript_support_level": null,
          "aa_start": 1447,
          "aa_end": null,
          "aa_length": 1647,
          "cds_start": 4340,
          "cds_end": null,
          "cds_length": 4944,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286582.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4340T>A",
          "hgvs_p": "p.Val1447Glu",
          "transcript": "ENST00000858737.1",
          "protein_id": "ENSP00000528796.1",
          "transcript_support_level": null,
          "aa_start": 1447,
          "aa_end": null,
          "aa_length": 1647,
          "cds_start": 4340,
          "cds_end": null,
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          "cdna_start": null,
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          "mane_select": null,
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        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
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          "transcript": "ENST00000919858.1",
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          "transcript_support_level": null,
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          "aa_end": null,
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          "cds_start": 4340,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000919858.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4337T>A",
          "hgvs_p": "p.Val1446Glu",
          "transcript": "ENST00000858733.1",
          "protein_id": "ENSP00000528792.1",
          "transcript_support_level": null,
          "aa_start": 1446,
          "aa_end": null,
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          "cds_start": 4337,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "V",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "intron_rank": null,
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          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4337T>A",
          "hgvs_p": "p.Val1446Glu",
          "transcript": "ENST00000858739.1",
          "protein_id": "ENSP00000528798.1",
          "transcript_support_level": null,
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          "aa_length": 1646,
          "cds_start": 4337,
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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": "ENST00000858739.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4337T>A",
          "hgvs_p": "p.Val1446Glu",
          "transcript": "ENST00000858741.1",
          "protein_id": "ENSP00000528800.1",
          "transcript_support_level": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "V",
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          ],
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          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4337T>A",
          "hgvs_p": "p.Val1446Glu",
          "transcript": "ENST00000858745.1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4334T>A",
          "hgvs_p": "p.Val1445Glu",
          "transcript": "NM_001286583.2",
          "protein_id": "NP_001273512.1",
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        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
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          "consequences": [
            "missense_variant"
          ],
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          "intron_rank": null,
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          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4334T>A",
          "hgvs_p": "p.Val1445Glu",
          "transcript": "ENST00000858730.1",
          "protein_id": "ENSP00000528789.1",
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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": "ENST00000858730.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "c.4334T>A",
          "hgvs_p": "p.Val1445Glu",
          "transcript": "ENST00000858742.1",
          "protein_id": "ENSP00000528801.1",
          "transcript_support_level": null,
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          "cds_start": 4334,
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          "transcript": "XM_047427348.1",
          "protein_id": "XP_047283304.1",
          "transcript_support_level": null,
          "aa_start": 1408,
          "aa_end": null,
          "aa_length": 1608,
          "cds_start": 4223,
          "cds_end": null,
          "cds_length": 4827,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047427348.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHRF1",
          "gene_hgnc_id": 24351,
          "hgvs_c": "n.4346T>A",
          "hgvs_p": null,
          "transcript": "ENST00000534320.5",
          "protein_id": "ENSP00000435360.1",
          "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": "ENST00000534320.5"
        }
      ],
      "gene_symbol": "PHRF1",
      "gene_hgnc_id": 24351,
      "dbsnp": "rs11246212",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": 0,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 0,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.04369893670082092,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.235,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1161,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.48,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.764,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "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": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001286581.2",
          "gene_symbol": "PHRF1",
          "hgnc_id": 24351,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.4346T>A",
          "hgvs_p": "p.Val1449Glu"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}