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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: 14-102048612-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=102048612&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 102048612,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001376.5",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 74,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.13315G>A",
          "hgvs_p": "p.Glu4439Lys",
          "transcript": "NM_001376.5",
          "protein_id": "NP_001367.2",
          "transcript_support_level": null,
          "aa_start": 4439,
          "aa_end": null,
          "aa_length": 4646,
          "cds_start": 13315,
          "cds_end": null,
          "cds_length": 13941,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000360184.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001376.5"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 74,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.13315G>A",
          "hgvs_p": "p.Glu4439Lys",
          "transcript": "ENST00000360184.10",
          "protein_id": "ENSP00000348965.4",
          "transcript_support_level": 1,
          "aa_start": 4439,
          "aa_end": null,
          "aa_length": 4646,
          "cds_start": 13315,
          "cds_end": null,
          "cds_length": 13941,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001376.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000360184.10"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 74,
          "exon_rank_end": null,
          "exon_count": 77,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.13315G>A",
          "hgvs_p": "p.Glu4439Lys",
          "transcript": "ENST00000681574.1",
          "protein_id": "ENSP00000505523.1",
          "transcript_support_level": null,
          "aa_start": 4439,
          "aa_end": null,
          "aa_length": 4672,
          "cds_start": 13315,
          "cds_end": null,
          "cds_length": 14019,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000681574.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 74,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.13315G>A",
          "hgvs_p": "p.Glu4439Lys",
          "transcript": "ENST00000679720.1",
          "protein_id": "ENSP00000505938.1",
          "transcript_support_level": null,
          "aa_start": 4439,
          "aa_end": null,
          "aa_length": 4637,
          "cds_start": 13315,
          "cds_end": null,
          "cds_length": 13914,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000679720.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 74,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.13315G>A",
          "hgvs_p": "p.Glu4439Lys",
          "transcript": "ENST00000644881.2",
          "protein_id": "ENSP00000495022.2",
          "transcript_support_level": null,
          "aa_start": 4439,
          "aa_end": null,
          "aa_length": 4604,
          "cds_start": 13315,
          "cds_end": null,
          "cds_length": 13815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000644881.2"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 73,
          "exon_rank_end": null,
          "exon_count": 77,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.13168G>A",
          "hgvs_p": "p.Glu4390Lys",
          "transcript": "ENST00000645149.2",
          "protein_id": "ENSP00000495944.2",
          "transcript_support_level": null,
          "aa_start": 4390,
          "aa_end": null,
          "aa_length": 4597,
          "cds_start": 13168,
          "cds_end": null,
          "cds_length": 13794,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000645149.2"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 72,
          "exon_rank_end": null,
          "exon_count": 76,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.12856G>A",
          "hgvs_p": "p.Glu4286Lys",
          "transcript": "ENST00000919473.1",
          "protein_id": "ENSP00000589532.1",
          "transcript_support_level": null,
          "aa_start": 4286,
          "aa_end": null,
          "aa_length": 4493,
          "cds_start": 12856,
          "cds_end": null,
          "cds_length": 13482,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000919473.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.388G>A",
          "hgvs_p": null,
          "transcript": "ENST00000555062.2",
          "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": "ENST00000555062.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.708G>A",
          "hgvs_p": null,
          "transcript": "ENST00000556229.2",
          "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": "ENST00000556229.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.3269G>A",
          "hgvs_p": null,
          "transcript": "ENST00000643437.1",
          "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": "retained_intron",
          "feature": "ENST00000643437.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.1108G>A",
          "hgvs_p": null,
          "transcript": "ENST00000643591.1",
          "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": "retained_intron",
          "feature": "ENST00000643591.1"
        },
        {
          "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": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.948G>A",
          "hgvs_p": null,
          "transcript": "ENST00000643729.1",
          "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": "retained_intron",
          "feature": "ENST00000643729.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.3271G>A",
          "hgvs_p": null,
          "transcript": "ENST00000643829.1",
          "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": "retained_intron",
          "feature": "ENST00000643829.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.1451G>A",
          "hgvs_p": null,
          "transcript": "ENST00000644239.2",
          "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": "retained_intron",
          "feature": "ENST00000644239.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.3921G>A",
          "hgvs_p": null,
          "transcript": "ENST00000644794.1",
          "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": "retained_intron",
          "feature": "ENST00000644794.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 72,
          "exon_rank_end": null,
          "exon_count": 76,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.*1166G>A",
          "hgvs_p": null,
          "transcript": "ENST00000645039.2",
          "protein_id": "ENSP00000495220.2",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000645039.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.1561G>A",
          "hgvs_p": null,
          "transcript": "ENST00000645085.1",
          "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": "retained_intron",
          "feature": "ENST00000645085.1"
        },
        {
          "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": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.950G>A",
          "hgvs_p": null,
          "transcript": "ENST00000647143.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": "retained_intron",
          "feature": "ENST00000647143.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.2651G>A",
          "hgvs_p": null,
          "transcript": "ENST00000647204.2",
          "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": "retained_intron",
          "feature": "ENST00000647204.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.6869G>A",
          "hgvs_p": null,
          "transcript": "ENST00000647366.1",
          "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": "retained_intron",
          "feature": "ENST00000647366.1"
        },
        {
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          "exon_count": 3,
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          "exon_count": 2,
          "intron_rank": 1,
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          "gene_symbol": "ENSG00000293472",
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          "biotype": "pseudogene",
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        {
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          "exon_count": 4,
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          "gene_symbol": "ENSG00000293472",
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        {
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          "biotype": "pseudogene",
          "feature": "ENST00000762208.1"
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      ],
      "gene_symbol": "DYNC1H1",
      "gene_hgnc_id": 2961,
      "dbsnp": "rs142883042",
      "frequency_reference_population": 0.00021003926,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 339,
      "gnomad_exomes_af": 0.000223016,
      "gnomad_genomes_af": 0.0000854094,
      "gnomad_exomes_ac": 326,
      "gnomad_genomes_ac": 13,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.20451226830482483,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.019999999552965164,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.171,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1877,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.42,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 6.647,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.02,
      "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,BP6,BS1,BS2",
      "acmg_by_gene": [
        {
          "score": -11,
          "benign_score": 11,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_001376.5",
          "gene_symbol": "DYNC1H1",
          "hgnc_id": 2961,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.13315G>A",
          "hgvs_p": "p.Glu4439Lys"
        },
        {
          "score": -3,
          "benign_score": 3,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000553701.1",
          "gene_symbol": "ENSG00000293472",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.346+1833C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2O,Inborn genetic diseases,not provided",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "US:1 LB:3",
      "phenotype_combined": "not provided|Charcot-Marie-Tooth disease axonal type 2O|Inborn genetic diseases",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.