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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: 16-87957445-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=87957445&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 87957445,
      "ref": "A",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001386991.1",
      "consequences": [
        {
          "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": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-69+5930A>C",
          "hgvs_p": null,
          "transcript": "NM_001386991.1",
          "protein_id": "NP_001373920.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 530,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1593,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000682872.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001386991.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-69+5930A>C",
          "hgvs_p": null,
          "transcript": "ENST00000682872.1",
          "protein_id": "ENSP00000507916.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 530,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1593,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001386991.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000682872.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-69+5930A>C",
          "hgvs_p": null,
          "transcript": "ENST00000626016.2",
          "protein_id": "ENSP00000487304.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000626016.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-69+5930A>C",
          "hgvs_p": null,
          "transcript": "ENST00000393208.6",
          "protein_id": "ENSP00000376903.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 491,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1476,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393208.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-69+5930A>C",
          "hgvs_p": null,
          "transcript": "ENST00000355022.8",
          "protein_id": "ENSP00000347125.4",
          "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": "ENST00000355022.8"
        },
        {
          "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": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-69+5930A>C",
          "hgvs_p": null,
          "transcript": "ENST00000479780.6",
          "protein_id": "ENSP00000432508.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1401,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000479780.6"
        },
        {
          "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": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-69+7684A>C",
          "hgvs_p": null,
          "transcript": "ENST00000854718.1",
          "protein_id": "ENSP00000524777.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854718.1"
        },
        {
          "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": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-69+5930A>C",
          "hgvs_p": null,
          "transcript": "ENST00000854736.1",
          "protein_id": "ENSP00000524795.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854736.1"
        },
        {
          "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": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-69+5930A>C",
          "hgvs_p": null,
          "transcript": "ENST00000854743.1",
          "protein_id": "ENSP00000524802.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 533,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1602,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854743.1"
        },
        {
          "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": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-69+5172A>C",
          "hgvs_p": null,
          "transcript": "ENST00000919342.1",
          "protein_id": "ENSP00000589401.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 533,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1602,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000919342.1"
        },
        {
          "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": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-69+7684A>C",
          "hgvs_p": null,
          "transcript": "ENST00000854716.1",
          "protein_id": "ENSP00000524775.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 530,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1593,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854716.1"
        },
        {
          "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": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-69+6518A>C",
          "hgvs_p": null,
          "transcript": "ENST00000854720.1",
          "protein_id": "ENSP00000524779.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 530,
          "cds_start": null,
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          "cds_length": 1593,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854720.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-69+7597A>C",
          "hgvs_p": null,
          "transcript": "ENST00000854729.1",
          "protein_id": "ENSP00000524788.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 530,
          "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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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-69+5172A>C",
          "hgvs_p": null,
          "transcript": "ENST00000919341.1",
          "protein_id": "ENSP00000589400.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 530,
          "cds_start": null,
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          "cds_length": 1593,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000919341.1"
        },
        {
          "aa_ref": null,
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          "consequences": [
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          ],
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          "exon_count": 14,
          "intron_rank": 1,
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          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-73+5930A>C",
          "hgvs_p": null,
          "transcript": "ENST00000969707.1",
          "protein_id": "ENSP00000639766.1",
          "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,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969707.1"
        },
        {
          "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": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-69+5031A>C",
          "hgvs_p": null,
          "transcript": "ENST00000969709.1",
          "protein_id": "ENSP00000639768.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 530,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000969709.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-69+5031A>C",
          "hgvs_p": null,
          "transcript": "ENST00000969710.1",
          "protein_id": "ENSP00000639769.1",
          "transcript_support_level": null,
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          "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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          "exon_count": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-69+5930A>C",
          "hgvs_p": null,
          "transcript": "NM_001386992.1",
          "protein_id": "NP_001373921.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001386992.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 14,
          "intron_rank": 1,
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          "gene_symbol": "BANP",
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          "hgvs_c": "c.-69+7684A>C",
          "hgvs_p": null,
          "transcript": "ENST00000854722.1",
          "protein_id": "ENSP00000524781.1",
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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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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BANP",
          "gene_hgnc_id": 13450,
          "hgvs_c": "c.-533+6518A>C",
          "hgvs_p": null,
          "transcript": "ENST00000854731.1",
          "protein_id": "ENSP00000524790.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 527,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1584,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854731.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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      "gene_symbol": "BANP",
      "gene_hgnc_id": 13450,
      "dbsnp": "rs4843747",
      "frequency_reference_population": 0.82646114,
      "hom_count_reference_population": 52550,
      "allele_count_reference_population": 125794,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.826461,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 125794,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 52550,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.9200000166893005,
      "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": -0.92,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.775,
      "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": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_001386991.1",
          "gene_symbol": "BANP",
          "hgnc_id": 13450,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.-69+5930A>C",
          "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
}
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