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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: 1-240776091-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=240776091&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 240776091,
      "ref": "C",
      "alt": "A",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_001364886.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RGS7",
          "gene_hgnc_id": 10003,
          "hgvs_c": "c.*129G>T",
          "hgvs_p": null,
          "transcript": "NM_001364886.1",
          "protein_id": "NP_001351815.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000440928.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001364886.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RGS7",
          "gene_hgnc_id": 10003,
          "hgvs_c": "c.*129G>T",
          "hgvs_p": null,
          "transcript": "ENST00000440928.6",
          "protein_id": "ENSP00000404399.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001364886.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000440928.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RGS7",
          "gene_hgnc_id": 10003,
          "hgvs_c": "c.*72G>T",
          "hgvs_p": null,
          "transcript": "ENST00000366565.5",
          "protein_id": "ENSP00000355523.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000366565.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RGS7",
          "gene_hgnc_id": 10003,
          "hgvs_c": "c.*72G>T",
          "hgvs_p": null,
          "transcript": "ENST00000366564.5",
          "protein_id": "ENSP00000355522.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 469,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1410,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000366564.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RGS7",
          "gene_hgnc_id": 10003,
          "hgvs_c": "c.*129G>T",
          "hgvs_p": null,
          "transcript": "ENST00000348120.6",
          "protein_id": "ENSP00000341242.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 424,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1275,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000348120.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RGS7",
          "gene_hgnc_id": 10003,
          "hgvs_c": "c.*72G>T",
          "hgvs_p": null,
          "transcript": "ENST00000688633.1",
          "protein_id": "ENSP00000509822.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1482,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000688633.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RGS7",
          "gene_hgnc_id": 10003,
          "hgvs_c": "c.*72G>T",
          "hgvs_p": null,
          "transcript": "NM_002924.6",
          "protein_id": "NP_002915.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002924.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RGS7",
          "gene_hgnc_id": 10003,
          "hgvs_c": "c.*72G>T",
          "hgvs_p": null,
          "transcript": "ENST00000688863.1",
          "protein_id": "ENSP00000509381.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000688863.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RGS7",
          "gene_hgnc_id": 10003,
          "hgvs_c": "c.*129G>T",
          "hgvs_p": null,
          "transcript": "NM_001282775.2",
          "protein_id": "NP_001269704.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 477,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1434,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001282775.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RGS7",
          "gene_hgnc_id": 10003,
          "hgvs_c": "c.*129G>T",
          "hgvs_p": null,
          "transcript": "ENST00000366563.5",
          "protein_id": "ENSP00000355521.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 477,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1434,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000366563.5"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RGS7",
          "gene_hgnc_id": 10003,
          "hgvs_c": "c.*129G>T",
          "hgvs_p": null,
          "transcript": "ENST00000691979.1",
          "protein_id": "ENSP00000510676.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 477,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1434,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000691979.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "RGS7",
          "gene_hgnc_id": 10003,
          "hgvs_c": "c.*72G>T",
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          "transcript": "NM_001282778.2",
          "protein_id": "NP_001269707.1",
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          "aa_length": 469,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "RGS7",
          "gene_hgnc_id": 10003,
          "hgvs_c": "c.*72G>T",
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          "transcript": "ENST00000686908.1",
          "protein_id": "ENSP00000510420.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RGS7",
          "gene_hgnc_id": 10003,
          "hgvs_c": "c.*129G>T",
          "hgvs_p": null,
          "transcript": "NM_001374806.1",
          "protein_id": "NP_001361735.1",
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          "aa_end": null,
          "aa_length": 460,
          "cds_start": null,
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        },
        {
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          "gene_symbol": "RGS7",
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          ],
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          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "RGS7",
          "gene_hgnc_id": 10003,
          "hgvs_c": "c.*72G>T",
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          "transcript": "ENST00000690019.1",
          "protein_id": "ENSP00000510735.1",
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        {
          "aa_ref": null,
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          ],
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          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "RGS7",
          "gene_hgnc_id": 10003,
          "hgvs_c": "c.*129G>T",
          "hgvs_p": null,
          "transcript": "NM_001350113.2",
          "protein_id": "NP_001337042.1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "RGS7",
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        {
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          ],
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        },
        {
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          "protein_coding": true,
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          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "RGS7",
          "gene_hgnc_id": 10003,
          "hgvs_c": "c.*129G>T",
          "hgvs_p": null,
          "transcript": "ENST00000685936.1",
          "protein_id": "ENSP00000510372.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RGS7",
          "gene_hgnc_id": 10003,
          "hgvs_c": "n.*1036G>T",
          "hgvs_p": null,
          "transcript": "ENST00000690356.1",
          "protein_id": "ENSP00000509411.1",
          "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": "ENST00000690356.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000226919",
          "gene_hgnc_id": null,
          "hgvs_c": "n.*47C>A",
          "hgvs_p": null,
          "transcript": "ENST00000644500.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000644500.1"
        }
      ],
      "gene_symbol": "RGS7",
      "gene_hgnc_id": 10003,
      "dbsnp": "rs12757054",
      "frequency_reference_population": 0.0000010012997,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 0.0000010013,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.4399999976158142,
      "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": -0.44,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.585,
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001364886.1",
          "gene_symbol": "RGS7",
          "hgnc_id": 10003,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.*129G>T",
          "hgvs_p": null
        },
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000652217.1",
          "gene_symbol": "ENSG00000226919",
          "hgnc_id": null,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.1092C>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}