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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: 8-144095871-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144095871&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 144095871,
      "ref": "C",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "NM_001916.5",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.168C>G",
          "hgvs_p": "p.Gly56Gly",
          "transcript": "NM_001916.5",
          "protein_id": "NP_001907.3",
          "transcript_support_level": null,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": 168,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000318911.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001916.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.168C>G",
          "hgvs_p": "p.Gly56Gly",
          "transcript": "ENST00000318911.5",
          "protein_id": "ENSP00000317159.4",
          "transcript_support_level": 1,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": 168,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001916.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000318911.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "n.833C>G",
          "hgvs_p": null,
          "transcript": "ENST00000533444.1",
          "protein_id": null,
          "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": "retained_intron",
          "feature": "ENST00000533444.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.246C>G",
          "hgvs_p": "p.Gly82Gly",
          "transcript": "ENST00000876792.1",
          "protein_id": "ENSP00000546851.1",
          "transcript_support_level": null,
          "aa_start": 82,
          "aa_end": null,
          "aa_length": 351,
          "cds_start": 246,
          "cds_end": null,
          "cds_length": 1056,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876792.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.168C>G",
          "hgvs_p": "p.Gly56Gly",
          "transcript": "ENST00000876797.1",
          "protein_id": "ENSP00000546856.1",
          "transcript_support_level": null,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": 168,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876797.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.168C>G",
          "hgvs_p": "p.Gly56Gly",
          "transcript": "ENST00000876794.1",
          "protein_id": "ENSP00000546853.1",
          "transcript_support_level": null,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 333,
          "cds_start": 168,
          "cds_end": null,
          "cds_length": 1002,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876794.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.168C>G",
          "hgvs_p": "p.Gly56Gly",
          "transcript": "ENST00000915399.1",
          "protein_id": "ENSP00000585458.1",
          "transcript_support_level": null,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 332,
          "cds_start": 168,
          "cds_end": null,
          "cds_length": 999,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915399.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.168C>G",
          "hgvs_p": "p.Gly56Gly",
          "transcript": "ENST00000876793.1",
          "protein_id": "ENSP00000546852.1",
          "transcript_support_level": null,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 168,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876793.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.168C>G",
          "hgvs_p": "p.Gly56Gly",
          "transcript": "ENST00000915398.1",
          "protein_id": "ENSP00000585457.1",
          "transcript_support_level": null,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 322,
          "cds_start": 168,
          "cds_end": null,
          "cds_length": 969,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915398.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.168C>G",
          "hgvs_p": "p.Gly56Gly",
          "transcript": "ENST00000965127.1",
          "protein_id": "ENSP00000635186.1",
          "transcript_support_level": null,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 322,
          "cds_start": 168,
          "cds_end": null,
          "cds_length": 969,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965127.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.168C>G",
          "hgvs_p": "p.Gly56Gly",
          "transcript": "ENST00000876796.1",
          "protein_id": "ENSP00000546855.1",
          "transcript_support_level": null,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 309,
          "cds_start": 168,
          "cds_end": null,
          "cds_length": 930,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876796.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.168C>G",
          "hgvs_p": "p.Gly56Gly",
          "transcript": "ENST00000965126.1",
          "protein_id": "ENSP00000635185.1",
          "transcript_support_level": null,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 309,
          "cds_start": 168,
          "cds_end": null,
          "cds_length": 930,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965126.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.168C>G",
          "hgvs_p": "p.Gly56Gly",
          "transcript": "ENST00000965128.1",
          "protein_id": "ENSP00000635187.1",
          "transcript_support_level": null,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 308,
          "cds_start": 168,
          "cds_end": null,
          "cds_length": 927,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965128.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.168C>G",
          "hgvs_p": "p.Gly56Gly",
          "transcript": "ENST00000965129.1",
          "protein_id": "ENSP00000635188.1",
          "transcript_support_level": null,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 297,
          "cds_start": 168,
          "cds_end": null,
          "cds_length": 894,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965129.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.168C>G",
          "hgvs_p": "p.Gly56Gly",
          "transcript": "ENST00000965131.1",
          "protein_id": "ENSP00000635190.1",
          "transcript_support_level": null,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 293,
          "cds_start": 168,
          "cds_end": null,
          "cds_length": 882,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965131.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.69C>G",
          "hgvs_p": "p.Gly23Gly",
          "transcript": "ENST00000876790.1",
          "protein_id": "ENSP00000546849.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 292,
          "cds_start": 69,
          "cds_end": null,
          "cds_length": 879,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876790.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.168C>G",
          "hgvs_p": "p.Gly56Gly",
          "transcript": "ENST00000965132.1",
          "protein_id": "ENSP00000635191.1",
          "transcript_support_level": null,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 168,
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          "cds_length": 870,
          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.194+176C>G",
          "hgvs_p": null,
          "transcript": "ENST00000915401.1",
          "protein_id": "ENSP00000585460.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 281,
          "cds_start": null,
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          "cds_length": 846,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000915401.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.195-111C>G",
          "hgvs_p": null,
          "transcript": "ENST00000915402.1",
          "protein_id": "ENSP00000585461.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 269,
          "cds_start": null,
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          "cds_length": 810,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000915402.1"
        },
        {
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CYC1",
          "gene_hgnc_id": 2579,
          "hgvs_c": "c.130-111C>G",
          "hgvs_p": null,
          "transcript": "ENST00000965130.1",
          "protein_id": "ENSP00000635189.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 269,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 810,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965130.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          "transcript": "ENST00000876795.1",
          "protein_id": "ENSP00000546854.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cds_length": 762,
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        {
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          ],
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          "gene_symbol": "CYC1",
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          "hgvs_c": "c.130-466C>G",
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          "transcript": "ENST00000876791.1",
          "protein_id": "ENSP00000546850.1",
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          "cds_length": 654,
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          "biotype": "protein_coding",
          "feature": "ENST00000876791.1"
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        {
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          "protein_coding": true,
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          "exon_count": 5,
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          "gene_symbol": "CYC1",
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          "hgvs_c": "c.10-562C>G",
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          "transcript": "ENST00000915400.1",
          "protein_id": "ENSP00000585459.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cds_length": 438,
          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000915400.1"
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        {
          "aa_ref": null,
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          "protein_coding": false,
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          "consequences": [
            "non_coding_transcript_exon_variant"
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          "exon_rank": 1,
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          "exon_count": 3,
          "intron_rank": null,
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          "gene_symbol": "CYC1",
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          "hgvs_c": "n.386C>G",
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          "transcript": "ENST00000528618.1",
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          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": null,
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          "biotype": "retained_intron",
          "feature": "ENST00000528618.1"
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      ],
      "gene_symbol": "CYC1",
      "gene_hgnc_id": 2579,
      "dbsnp": "rs775233321",
      "frequency_reference_population": 0.0000013729474,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 2,
      "gnomad_exomes_af": 0.00000137295,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 2,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.5899999737739563,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.09000000357627869,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.59,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.089,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.09,
      "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": -3,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP7",
      "acmg_by_gene": [
        {
          "score": -3,
          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001916.5",
          "gene_symbol": "CYC1",
          "hgnc_id": 2579,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR,Unknown",
          "hgvs_c": "c.168C>G",
          "hgvs_p": "p.Gly56Gly"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}