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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: 17-64356203-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=64356203&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 64356203,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_000442.5",
      "consequences": [
        {
          "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": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "NM_000442.5",
          "protein_id": "NP_000433.4",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 738,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 2217,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000563924.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000442.5"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000563924.6",
          "protein_id": "ENSP00000457421.1",
          "transcript_support_level": 1,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 738,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 2217,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000442.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000563924.6"
        },
        {
          "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": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000904885.1",
          "protein_id": "ENSP00000574944.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 770,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 2313,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000904885.1"
        },
        {
          "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": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000904891.1",
          "protein_id": "ENSP00000574950.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 770,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 2313,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000904891.1"
        },
        {
          "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": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000904892.1",
          "protein_id": "ENSP00000574951.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 769,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 2310,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000904892.1"
        },
        {
          "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": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1685G>A",
          "hgvs_p": "p.Ser562Asn",
          "transcript": "ENST00000951550.1",
          "protein_id": "ENSP00000621609.1",
          "transcript_support_level": null,
          "aa_start": 562,
          "aa_end": null,
          "aa_length": 768,
          "cds_start": 1685,
          "cds_end": null,
          "cds_length": 2307,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951550.1"
        },
        {
          "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": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000951545.1",
          "protein_id": "ENSP00000621604.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 751,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 2256,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951545.1"
        },
        {
          "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": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000951548.1",
          "protein_id": "ENSP00000621607.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 751,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 2256,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951548.1"
        },
        {
          "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": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000904882.1",
          "protein_id": "ENSP00000574941.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 739,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 2220,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000904882.1"
        },
        {
          "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": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000904873.1",
          "protein_id": "ENSP00000574932.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 738,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 2217,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000904873.1"
        },
        {
          "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": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000904874.1",
          "protein_id": "ENSP00000574933.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 738,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 2217,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000904874.1"
        },
        {
          "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": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000904875.1",
          "protein_id": "ENSP00000574934.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 738,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 2217,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000904875.1"
        },
        {
          "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": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000904889.1",
          "protein_id": "ENSP00000574948.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 738,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 2217,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000904889.1"
        },
        {
          "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": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1685G>A",
          "hgvs_p": "p.Ser562Asn",
          "transcript": "ENST00000951542.1",
          "protein_id": "ENSP00000621601.1",
          "transcript_support_level": null,
          "aa_start": 562,
          "aa_end": null,
          "aa_length": 737,
          "cds_start": 1685,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000951542.1"
        },
        {
          "aa_ref": "S",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1661G>A",
          "hgvs_p": "p.Ser554Asn",
          "transcript": "ENST00000951549.1",
          "protein_id": "ENSP00000621608.1",
          "transcript_support_level": null,
          "aa_start": 554,
          "aa_end": null,
          "aa_length": 729,
          "cds_start": 1661,
          "cds_end": null,
          "cds_length": 2190,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951549.1"
        },
        {
          "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": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1637G>A",
          "hgvs_p": "p.Ser546Asn",
          "transcript": "ENST00000904877.1",
          "protein_id": "ENSP00000574936.1",
          "transcript_support_level": null,
          "aa_start": 546,
          "aa_end": null,
          "aa_length": 721,
          "cds_start": 1637,
          "cds_end": null,
          "cds_length": 2166,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000904877.1"
        },
        {
          "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": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000904878.1",
          "protein_id": "ENSP00000574937.1",
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          "biotype": "protein_coding",
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        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000904876.1",
          "protein_id": "ENSP00000574935.1",
          "transcript_support_level": null,
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          "cds_start": 1688,
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          "cds_length": 2160,
          "cdna_start": null,
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        },
        {
          "aa_ref": "S",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
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          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000904884.1",
          "protein_id": "ENSP00000574943.1",
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          "aa_start": 563,
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          "cds_start": 1688,
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          "cds_length": 2160,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000904884.1"
        },
        {
          "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": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000904879.1",
          "protein_id": "ENSP00000574938.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 717,
          "cds_start": 1688,
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          "protein_id": "XP_005276940.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 706,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 2121,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005276883.3"
        },
        {
          "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": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PECAM1",
          "gene_hgnc_id": 8823,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "XM_017024741.2",
          "protein_id": "XP_016880230.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 701,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 2106,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017024741.2"
        }
      ],
      "gene_symbol": "PECAM1",
      "gene_hgnc_id": 8823,
      "dbsnp": "rs12953",
      "frequency_reference_population": 0.44305202,
      "hom_count_reference_population": 50015,
      "allele_count_reference_population": 210074,
      "gnomad_exomes_af": 0.471876,
      "gnomad_genomes_af": 0.381415,
      "gnomad_exomes_ac": 152449,
      "gnomad_genomes_ac": 57625,
      "gnomad_exomes_homalt": 37185,
      "gnomad_genomes_homalt": 12830,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.003622978925704956,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": 0.1164,
      "alphamissense_prediction": "Benign",
      "bayesdelnoaf_score": null,
      "bayesdelnoaf_prediction": null,
      "phylop100way_score": 2.098,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "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,BA1",
      "acmg_by_gene": [
        {
          "score": -13,
          "benign_score": 13,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_000442.5",
          "gene_symbol": "PECAM1",
          "hgnc_id": 8823,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn"
        }
      ],
      "clinvar_disease": "Three Vessel Coronary Disease",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "Three Vessel Coronary Disease",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}