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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: 3-123629587-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=123629587&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 123629587,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000360304.8",
      "consequences": [
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "c.5001C>T",
          "hgvs_p": "p.Asn1667Asn",
          "transcript": "NM_053025.4",
          "protein_id": "NP_444253.3",
          "transcript_support_level": null,
          "aa_start": 1667,
          "aa_end": null,
          "aa_length": 1914,
          "cds_start": 5001,
          "cds_end": null,
          "cds_length": 5745,
          "cdna_start": 5313,
          "cdna_end": null,
          "cdna_length": 10113,
          "mane_select": "ENST00000360304.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "c.5001C>T",
          "hgvs_p": "p.Asn1667Asn",
          "transcript": "ENST00000360304.8",
          "protein_id": "ENSP00000353452.3",
          "transcript_support_level": 5,
          "aa_start": 1667,
          "aa_end": null,
          "aa_length": 1914,
          "cds_start": 5001,
          "cds_end": null,
          "cds_length": 5745,
          "cdna_start": 5313,
          "cdna_end": null,
          "cdna_length": 10113,
          "mane_select": "NM_053025.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "n.*4580C>T",
          "hgvs_p": null,
          "transcript": "ENST00000464489.5",
          "protein_id": "ENSP00000417798.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5901,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK-AS1",
          "gene_hgnc_id": 42440,
          "hgvs_c": "n.367G>A",
          "hgvs_p": null,
          "transcript": "ENST00000470449.3",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1378,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "n.*4580C>T",
          "hgvs_p": null,
          "transcript": "ENST00000464489.5",
          "protein_id": "ENSP00000417798.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5901,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "c.5031C>T",
          "hgvs_p": "p.Asn1677Asn",
          "transcript": "ENST00000687848.1",
          "protein_id": "ENSP00000508761.1",
          "transcript_support_level": null,
          "aa_start": 1677,
          "aa_end": null,
          "aa_length": 1924,
          "cds_start": 5031,
          "cds_end": null,
          "cds_length": 5775,
          "cdna_start": 5193,
          "cdna_end": null,
          "cdna_length": 5956,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "c.5001C>T",
          "hgvs_p": "p.Asn1667Asn",
          "transcript": "ENST00000686761.1",
          "protein_id": "ENSP00000508758.1",
          "transcript_support_level": null,
          "aa_start": 1667,
          "aa_end": null,
          "aa_length": 1914,
          "cds_start": 5001,
          "cds_end": null,
          "cds_length": 5745,
          "cdna_start": 5360,
          "cdna_end": null,
          "cdna_length": 6162,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "c.5001C>T",
          "hgvs_p": "p.Asn1667Asn",
          "transcript": "ENST00000686406.1",
          "protein_id": "ENSP00000509044.1",
          "transcript_support_level": null,
          "aa_start": 1667,
          "aa_end": null,
          "aa_length": 1913,
          "cds_start": 5001,
          "cds_end": null,
          "cds_length": 5742,
          "cdna_start": 5004,
          "cdna_end": null,
          "cdna_length": 5783,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "c.4794C>T",
          "hgvs_p": "p.Asn1598Asn",
          "transcript": "NM_053026.4",
          "protein_id": "NP_444254.3",
          "transcript_support_level": null,
          "aa_start": 1598,
          "aa_end": null,
          "aa_length": 1845,
          "cds_start": 4794,
          "cds_end": null,
          "cds_length": 5538,
          "cdna_start": 5106,
          "cdna_end": null,
          "cdna_length": 9906,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "c.4794C>T",
          "hgvs_p": "p.Asn1598Asn",
          "transcript": "ENST00000693689.1",
          "protein_id": "ENSP00000510503.1",
          "transcript_support_level": null,
          "aa_start": 1598,
          "aa_end": null,
          "aa_length": 1845,
          "cds_start": 4794,
          "cds_end": null,
          "cds_length": 5538,
          "cdna_start": 5088,
          "cdna_end": null,
          "cdna_length": 7398,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "c.4473C>T",
          "hgvs_p": "p.Asn1491Asn",
          "transcript": "NM_001321309.2",
          "protein_id": "NP_001308238.1",
          "transcript_support_level": null,
          "aa_start": 1491,
          "aa_end": null,
          "aa_length": 1738,
          "cds_start": 4473,
          "cds_end": null,
          "cds_length": 5217,
          "cdna_start": 5105,
          "cdna_end": null,
          "cdna_length": 9905,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "c.4239C>T",
          "hgvs_p": "p.Asn1413Asn",
          "transcript": "ENST00000690457.1",
          "protein_id": "ENSP00000508777.1",
          "transcript_support_level": null,
          "aa_start": 1413,
          "aa_end": null,
          "aa_length": 1660,
          "cds_start": 4239,
          "cds_end": null,
          "cds_length": 4983,
          "cdna_start": 4336,
          "cdna_end": null,
          "cdna_length": 5130,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "c.2235C>T",
          "hgvs_p": "p.Asn745Asn",
          "transcript": "ENST00000685021.1",
          "protein_id": "ENSP00000508447.1",
          "transcript_support_level": null,
          "aa_start": 745,
          "aa_end": null,
          "aa_length": 992,
          "cds_start": 2235,
          "cds_end": null,
          "cds_length": 2979,
          "cdna_start": 2732,
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          "cdna_length": 5278,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "c.2235C>T",
          "hgvs_p": "p.Asn745Asn",
          "transcript": "ENST00000688024.1",
          "protein_id": "ENSP00000509803.1",
          "transcript_support_level": null,
          "aa_start": 745,
          "aa_end": null,
          "aa_length": 991,
          "cds_start": 2235,
          "cds_end": null,
          "cds_length": 2976,
          "cdna_start": 2552,
          "cdna_end": null,
          "cdna_length": 5074,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "c.2118C>T",
          "hgvs_p": "p.Asn706Asn",
          "transcript": "ENST00000686245.1",
          "protein_id": "ENSP00000509313.1",
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          "aa_start": 706,
          "aa_end": null,
          "aa_length": 953,
          "cds_start": 2118,
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          "cds_length": 2862,
          "cdna_start": 2491,
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          "cdna_length": 3278,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "c.2031C>T",
          "hgvs_p": "p.Asn677Asn",
          "transcript": "ENST00000688223.1",
          "protein_id": "ENSP00000508935.1",
          "transcript_support_level": null,
          "aa_start": 677,
          "aa_end": null,
          "aa_length": 924,
          "cds_start": 2031,
          "cds_end": null,
          "cds_length": 2775,
          "cdna_start": 2534,
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          "cdna_length": 5069,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "c.1401C>T",
          "hgvs_p": "p.Asn467Asn",
          "transcript": "ENST00000508240.2",
          "protein_id": "ENSP00000422984.2",
          "transcript_support_level": 4,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 714,
          "cds_start": 1401,
          "cds_end": null,
          "cds_length": 2145,
          "cdna_start": 1555,
          "cdna_end": null,
          "cdna_length": 2359,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "c.1401C>T",
          "hgvs_p": "p.Asn467Asn",
          "transcript": "ENST00000685953.1",
          "protein_id": "ENSP00000510593.1",
          "transcript_support_level": null,
          "aa_start": 467,
          "aa_end": null,
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          "cds_start": 1401,
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          "cdna_start": 1530,
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          "cdna_length": 3686,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "c.5031C>T",
          "hgvs_p": "p.Asn1677Asn",
          "transcript": "XM_024453532.2",
          "protein_id": "XP_024309300.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 1924,
          "cds_start": 5031,
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          "cdna_start": 5314,
          "cdna_end": null,
          "cdna_length": 10114,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYLK",
          "gene_hgnc_id": 7590,
          "hgvs_c": "c.5031C>T",
          "hgvs_p": "p.Asn1677Asn",
          "transcript": "XM_047448183.1",
          "protein_id": "XP_047304139.1",
          "transcript_support_level": null,
          "aa_start": 1677,
          "aa_end": null,
          "aa_length": 1924,
          "cds_start": 5031,
          "cds_end": null,
          "cds_length": 5775,
          "cdna_start": 5373,
          "cdna_end": null,
          "cdna_length": 10173,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 36,
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      "dbsnp": "rs375038682",
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      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.6000000238418579,
      "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": -0.6,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.689,
      "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": -6,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Strong,BP6,BP7",
      "acmg_by_gene": [
        {
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          "benign_score": 6,
          "pathogenic_score": 0,
          "criteria": [
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            "BP6",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000360304.8",
          "gene_symbol": "MYLK",
          "hgnc_id": 7590,
          "effects": [
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          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.5001C>T",
          "hgvs_p": "p.Asn1667Asn"
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        {
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          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
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            "BP4_Strong",
            "BP6"
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          "verdict": "Likely_benign",
          "transcript": "ENST00000470449.3",
          "gene_symbol": "MYLK-AS1",
          "hgnc_id": 42440,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.367G>A",
          "hgvs_p": null
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      ],
      "clinvar_disease": " familial thoracic 7,Aortic aneurysm,Familial thoracic aortic aneurysm and aortic dissection,not provided,not specified",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "US:1 LB:5 B:1",
      "phenotype_combined": "not specified|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 7|not provided",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}