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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: 9-32984659-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=32984659&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 32984659,
      "ref": "A",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_175073.3",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "c.742T>A",
          "hgvs_p": "p.Leu248Met",
          "transcript": "NM_001195248.2",
          "protein_id": "NP_001182177.2",
          "transcript_support_level": null,
          "aa_start": 248,
          "aa_end": null,
          "aa_length": 342,
          "cds_start": 742,
          "cds_end": null,
          "cds_length": 1029,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000379817.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001195248.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "c.742T>A",
          "hgvs_p": "p.Leu248Met",
          "transcript": "ENST00000379817.7",
          "protein_id": "ENSP00000369145.2",
          "transcript_support_level": 1,
          "aa_start": 248,
          "aa_end": null,
          "aa_length": 342,
          "cds_start": 742,
          "cds_end": null,
          "cds_length": 1029,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001195248.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000379817.7"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "c.742T>A",
          "hgvs_p": "p.Leu248Met",
          "transcript": "ENST00000379819.6",
          "protein_id": "ENSP00000369147.2",
          "transcript_support_level": 1,
          "aa_start": 248,
          "aa_end": null,
          "aa_length": 342,
          "cds_start": 742,
          "cds_end": null,
          "cds_length": 1029,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000379819.6"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "c.742T>A",
          "hgvs_p": "p.Leu248Met",
          "transcript": "ENST00000463596.6",
          "protein_id": "ENSP00000419846.1",
          "transcript_support_level": 1,
          "aa_start": 248,
          "aa_end": null,
          "aa_length": 342,
          "cds_start": 742,
          "cds_end": null,
          "cds_length": 1029,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000463596.6"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "c.742T>A",
          "hgvs_p": "p.Leu248Met",
          "transcript": "ENST00000468275.6",
          "protein_id": "ENSP00000420263.2",
          "transcript_support_level": 1,
          "aa_start": 248,
          "aa_end": null,
          "aa_length": 292,
          "cds_start": 742,
          "cds_end": null,
          "cds_length": 879,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000468275.6"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "c.580T>A",
          "hgvs_p": "p.Leu194Met",
          "transcript": "ENST00000309615.8",
          "protein_id": "ENSP00000311547.4",
          "transcript_support_level": 1,
          "aa_start": 194,
          "aa_end": null,
          "aa_length": 288,
          "cds_start": 580,
          "cds_end": null,
          "cds_length": 867,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000309615.8"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "c.580T>A",
          "hgvs_p": "p.Leu194Met",
          "transcript": "ENST00000436040.7",
          "protein_id": "ENSP00000400806.4",
          "transcript_support_level": 1,
          "aa_start": 194,
          "aa_end": null,
          "aa_length": 288,
          "cds_start": 580,
          "cds_end": null,
          "cds_length": 867,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000436040.7"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "c.580T>A",
          "hgvs_p": "p.Leu194Met",
          "transcript": "ENST00000476858.6",
          "protein_id": "ENSP00000419042.2",
          "transcript_support_level": 1,
          "aa_start": 194,
          "aa_end": null,
          "aa_length": 288,
          "cds_start": 580,
          "cds_end": null,
          "cds_length": 867,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000476858.6"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "c.526T>A",
          "hgvs_p": "p.Leu176Met",
          "transcript": "ENST00000397172.8",
          "protein_id": "ENSP00000380357.4",
          "transcript_support_level": 1,
          "aa_start": 176,
          "aa_end": null,
          "aa_length": 270,
          "cds_start": 526,
          "cds_end": null,
          "cds_length": 813,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000397172.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "n.*472T>A",
          "hgvs_p": null,
          "transcript": "ENST00000464632.6",
          "protein_id": "ENSP00000418069.2",
          "transcript_support_level": 1,
          "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": "ENST00000464632.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "n.*472T>A",
          "hgvs_p": null,
          "transcript": "ENST00000465003.6",
          "protein_id": "ENSP00000419430.2",
          "transcript_support_level": 1,
          "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": "ENST00000465003.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "n.*587T>A",
          "hgvs_p": null,
          "transcript": "ENST00000467331.6",
          "protein_id": "ENSP00000418733.1",
          "transcript_support_level": 1,
          "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": "ENST00000467331.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "n.*536T>A",
          "hgvs_p": null,
          "transcript": "ENST00000472896.6",
          "protein_id": "ENSP00000417804.2",
          "transcript_support_level": 1,
          "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": "ENST00000472896.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "n.*369T>A",
          "hgvs_p": null,
          "transcript": "ENST00000478279.6",
          "protein_id": "ENSP00000419597.2",
          "transcript_support_level": 1,
          "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": "ENST00000478279.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "n.*587T>A",
          "hgvs_p": null,
          "transcript": "ENST00000479656.6",
          "protein_id": "ENSP00000420071.1",
          "transcript_support_level": 1,
          "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": "ENST00000479656.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "n.*369T>A",
          "hgvs_p": null,
          "transcript": "ENST00000483148.6",
          "protein_id": "ENSP00000419723.1",
          "transcript_support_level": 1,
          "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": "ENST00000483148.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "n.*463T>A",
          "hgvs_p": null,
          "transcript": "ENST00000485479.6",
          "protein_id": "ENSP00000418144.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000485479.6"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "n.*587T>A",
          "hgvs_p": null,
          "transcript": "ENST00000494649.5",
          "protein_id": "ENSP00000417634.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000494649.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "n.*472T>A",
          "hgvs_p": null,
          "transcript": "ENST00000464632.6",
          "protein_id": "ENSP00000418069.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000464632.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "n.*472T>A",
          "hgvs_p": null,
          "transcript": "ENST00000465003.6",
          "protein_id": "ENSP00000419430.2",
          "transcript_support_level": 1,
          "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": "ENST00000465003.6"
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "NR_160928.1"
        },
        {
          "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": 7,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "n.663+1312T>A",
          "hgvs_p": null,
          "transcript": "NR_160929.1",
          "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_160929.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APTX",
          "gene_hgnc_id": 15984,
          "hgvs_c": "n.*536T>A",
          "hgvs_p": null,
          "transcript": "ENST00000480031.6",
          "protein_id": "ENSP00000417684.1",
          "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": "ENST00000480031.6"
        }
      ],
      "gene_symbol": "APTX",
      "gene_hgnc_id": 15984,
      "dbsnp": "rs141195622",
      "frequency_reference_population": 0.0017742754,
      "hom_count_reference_population": 6,
      "allele_count_reference_population": 2864,
      "gnomad_exomes_af": 0.00177373,
      "gnomad_genomes_af": 0.0017795,
      "gnomad_exomes_ac": 2593,
      "gnomad_genomes_ac": 271,
      "gnomad_exomes_homalt": 5,
      "gnomad_genomes_homalt": 1,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.01604551076889038,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.402,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.1176,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.17,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.017,
      "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": -13,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
      "acmg_by_gene": [
        {
          "score": -13,
          "benign_score": 13,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_175073.3",
          "gene_symbol": "APTX",
          "hgnc_id": 15984,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.742T>A",
          "hgvs_p": "p.Leu248Met"
        }
      ],
      "clinvar_disease": " early-onset, with oculomotor apraxia and hypoalbuminemia,Ataxia,Inborn genetic diseases,not provided,not specified",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "US:6 LB:3 B:1",
      "phenotype_combined": "not provided|Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia|not specified|Inborn genetic diseases",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}