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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: 2-272051-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=272051&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 272051,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_004300.4",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "c.132C>T",
          "hgvs_p": "p.Ser44Ser",
          "transcript": "NM_004300.4",
          "protein_id": "NP_004291.1",
          "transcript_support_level": null,
          "aa_start": 44,
          "aa_end": null,
          "aa_length": 158,
          "cds_start": 132,
          "cds_end": null,
          "cds_length": 477,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000272065.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004300.4"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "c.132C>T",
          "hgvs_p": "p.Ser44Ser",
          "transcript": "ENST00000272065.10",
          "protein_id": "ENSP00000272065.5",
          "transcript_support_level": 1,
          "aa_start": 44,
          "aa_end": null,
          "aa_length": 158,
          "cds_start": 132,
          "cds_end": null,
          "cds_length": 477,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004300.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000272065.10"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "c.132C>T",
          "hgvs_p": "p.Ser44Ser",
          "transcript": "ENST00000407983.7",
          "protein_id": "ENSP00000385404.3",
          "transcript_support_level": 1,
          "aa_start": 44,
          "aa_end": null,
          "aa_length": 112,
          "cds_start": 132,
          "cds_end": null,
          "cds_length": 339,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000407983.7"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "c.132C>T",
          "hgvs_p": "p.Ser44Ser",
          "transcript": "ENST00000405233.5",
          "protein_id": "ENSP00000384307.1",
          "transcript_support_level": 1,
          "aa_start": 44,
          "aa_end": null,
          "aa_length": 70,
          "cds_start": 132,
          "cds_end": null,
          "cds_length": 213,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000405233.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "c.117+112C>T",
          "hgvs_p": null,
          "transcript": "ENST00000272067.11",
          "protein_id": "ENSP00000272067.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 158,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 477,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000272067.11"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "n.132C>T",
          "hgvs_p": null,
          "transcript": "ENST00000453390.5",
          "protein_id": "ENSP00000411121.1",
          "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": "ENST00000453390.5"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "c.105C>T",
          "hgvs_p": "p.Ser35Ser",
          "transcript": "ENST00000896690.1",
          "protein_id": "ENSP00000566749.1",
          "transcript_support_level": null,
          "aa_start": 35,
          "aa_end": null,
          "aa_length": 149,
          "cds_start": 105,
          "cds_end": null,
          "cds_length": 450,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896690.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "c.132C>T",
          "hgvs_p": "p.Ser44Ser",
          "transcript": "ENST00000896688.1",
          "protein_id": "ENSP00000566747.1",
          "transcript_support_level": null,
          "aa_start": 44,
          "aa_end": null,
          "aa_length": 136,
          "cds_start": 132,
          "cds_end": null,
          "cds_length": 411,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896688.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "c.105C>T",
          "hgvs_p": "p.Ser35Ser",
          "transcript": "ENST00000896691.1",
          "protein_id": "ENSP00000566750.1",
          "transcript_support_level": null,
          "aa_start": 35,
          "aa_end": null,
          "aa_length": 127,
          "cds_start": 105,
          "cds_end": null,
          "cds_length": 384,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896691.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "c.132C>T",
          "hgvs_p": "p.Ser44Ser",
          "transcript": "NM_001040649.3",
          "protein_id": "NP_001035739.1",
          "transcript_support_level": null,
          "aa_start": 44,
          "aa_end": null,
          "aa_length": 112,
          "cds_start": 132,
          "cds_end": null,
          "cds_length": 339,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001040649.3"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "c.132C>T",
          "hgvs_p": "p.Ser44Ser",
          "transcript": "ENST00000896687.1",
          "protein_id": "ENSP00000566746.1",
          "transcript_support_level": null,
          "aa_start": 44,
          "aa_end": null,
          "aa_length": 102,
          "cds_start": 132,
          "cds_end": null,
          "cds_length": 309,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896687.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "c.117+112C>T",
          "hgvs_p": null,
          "transcript": "NM_007099.4",
          "protein_id": "NP_009030.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 158,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 477,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_007099.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "c.117+112C>T",
          "hgvs_p": null,
          "transcript": "ENST00000896686.1",
          "protein_id": "ENSP00000566745.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 120,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 363,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896686.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "c.117+112C>T",
          "hgvs_p": null,
          "transcript": "ENST00000972067.1",
          "protein_id": "ENSP00000642126.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 102,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 309,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000972067.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "c.117+112C>T",
          "hgvs_p": null,
          "transcript": "ENST00000439645.6",
          "protein_id": "ENSP00000408596.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 85,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 258,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000439645.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "c.117+112C>T",
          "hgvs_p": null,
          "transcript": "ENST00000896689.1",
          "protein_id": "ENSP00000566748.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 64,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 195,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896689.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "n.*38C>T",
          "hgvs_p": null,
          "transcript": "ENST00000405364.2",
          "protein_id": "ENSP00000384184.2",
          "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": "ENST00000405364.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "n.132C>T",
          "hgvs_p": null,
          "transcript": "ENST00000413140.5",
          "protein_id": "ENSP00000410331.1",
          "transcript_support_level": 2,
          "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": "ENST00000413140.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "n.*38C>T",
          "hgvs_p": null,
          "transcript": "ENST00000442386.5",
          "protein_id": "ENSP00000389681.1",
          "transcript_support_level": 4,
          "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": "ENST00000442386.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP1",
          "gene_hgnc_id": 122,
          "hgvs_c": "n.161C>T",
          "hgvs_p": null,
          "transcript": "ENST00000480874.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": "retained_intron",
          "feature": "ENST00000480874.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
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          "transcript": "ENST00000484464.5",
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          "transcript_support_level": 4,
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        {
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          "protein_coding": false,
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          "consequences": [
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          "exon_count": 7,
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          "hgvs_c": "n.150C>T",
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          "transcript": "NR_024080.2",
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          "biotype": "pseudogene",
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        {
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          "protein_coding": false,
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          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "ACP1",
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          "hgvs_c": "n.*38C>T",
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          "transcript": "ENST00000405364.2",
          "protein_id": "ENSP00000384184.2",
          "transcript_support_level": 5,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000405364.2"
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        {
          "aa_ref": null,
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          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
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          "exon_rank": 4,
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "ACP1",
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          "hgvs_c": "n.*38C>T",
          "hgvs_p": null,
          "transcript": "ENST00000442386.5",
          "protein_id": "ENSP00000389681.1",
          "transcript_support_level": 4,
          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000442386.5"
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      ],
      "gene_symbol": "ACP1",
      "gene_hgnc_id": 122,
      "dbsnp": "rs11553742",
      "frequency_reference_population": 0.046792205,
      "hom_count_reference_population": 2083,
      "allele_count_reference_population": 75501,
      "gnomad_exomes_af": 0.0475933,
      "gnomad_genomes_af": 0.0390759,
      "gnomad_exomes_ac": 69571,
      "gnomad_genomes_ac": 5930,
      "gnomad_exomes_homalt": 1903,
      "gnomad_genomes_homalt": 180,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.25999999046325684,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.26,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 3.067,
      "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": -11,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP7,BA1",
      "acmg_by_gene": [
        {
          "score": -11,
          "benign_score": 11,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP7",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_004300.4",
          "gene_symbol": "ACP1",
          "hgnc_id": 122,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.132C>T",
          "hgvs_p": "p.Ser44Ser"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}