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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: 17-39724744-G-GTTT (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39724744&ref=G&alt=GTTT&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 39724744,
      "ref": "G",
      "alt": "GTTT",
      "effect": "disruptive_inframe_insertion",
      "transcript": "ENST00000269571.10",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "VC",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2326_2327insTTT",
          "hgvs_p": "p.Gly776delinsValCys",
          "transcript": "NM_004448.4",
          "protein_id": "NP_004439.2",
          "transcript_support_level": null,
          "aa_start": 776,
          "aa_end": null,
          "aa_length": 1255,
          "cds_start": 2327,
          "cds_end": null,
          "cds_length": 3768,
          "cdna_start": 2502,
          "cdna_end": null,
          "cdna_length": 4557,
          "mane_select": "ENST00000269571.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "VC",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2326_2327insTTT",
          "hgvs_p": "p.Gly776delinsValCys",
          "transcript": "ENST00000269571.10",
          "protein_id": "ENSP00000269571.4",
          "transcript_support_level": 1,
          "aa_start": 776,
          "aa_end": null,
          "aa_length": 1255,
          "cds_start": 2327,
          "cds_end": null,
          "cds_length": 3768,
          "cdna_start": 2502,
          "cdna_end": null,
          "cdna_length": 4557,
          "mane_select": "NM_004448.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "VC",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2326_2327insTTT",
          "hgvs_p": "p.Gly776delinsValCys",
          "transcript": "ENST00000584450.5",
          "protein_id": "ENSP00000463714.1",
          "transcript_support_level": 1,
          "aa_start": 776,
          "aa_end": null,
          "aa_length": 1055,
          "cds_start": 2327,
          "cds_end": null,
          "cds_length": 3168,
          "cdna_start": 2542,
          "cdna_end": null,
          "cdna_length": 3730,
          "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": 20,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "n.*2116_*2117insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000578373.5",
          "protein_id": "ENSP00000463427.1",
          "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": 4523,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "n.*2116_*2117insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000578373.5",
          "protein_id": "ENSP00000463427.1",
          "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": 4523,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "VC",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2443_2444insTTT",
          "hgvs_p": "p.Gly815delinsValCys",
          "transcript": "NM_001382784.1",
          "protein_id": "NP_001369713.1",
          "transcript_support_level": null,
          "aa_start": 815,
          "aa_end": null,
          "aa_length": 1294,
          "cds_start": 2444,
          "cds_end": null,
          "cds_length": 3885,
          "cdna_start": 2619,
          "cdna_end": null,
          "cdna_length": 4674,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "VC",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2428_2429insTTT",
          "hgvs_p": "p.Gly810delinsValCys",
          "transcript": "NM_001382785.1",
          "protein_id": "NP_001369714.1",
          "transcript_support_level": null,
          "aa_start": 810,
          "aa_end": null,
          "aa_length": 1289,
          "cds_start": 2429,
          "cds_end": null,
          "cds_length": 3870,
          "cdna_start": 2604,
          "cdna_end": null,
          "cdna_length": 4659,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "VC",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2407_2408insTTT",
          "hgvs_p": "p.Gly803delinsValCys",
          "transcript": "NM_001382786.1",
          "protein_id": "NP_001369715.1",
          "transcript_support_level": null,
          "aa_start": 803,
          "aa_end": null,
          "aa_length": 1282,
          "cds_start": 2408,
          "cds_end": null,
          "cds_length": 3849,
          "cdna_start": 2583,
          "cdna_end": null,
          "cdna_length": 4638,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "VC",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2401_2402insTTT",
          "hgvs_p": "p.Gly801delinsValCys",
          "transcript": "NM_001382787.1",
          "protein_id": "NP_001369716.1",
          "transcript_support_level": null,
          "aa_start": 801,
          "aa_end": null,
          "aa_length": 1280,
          "cds_start": 2402,
          "cds_end": null,
          "cds_length": 3843,
          "cdna_start": 2577,
          "cdna_end": null,
          "cdna_length": 4632,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "VC",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2356_2357insTTT",
          "hgvs_p": "p.Gly786delinsValCys",
          "transcript": "NM_001382788.1",
          "protein_id": "NP_001369717.1",
          "transcript_support_level": null,
          "aa_start": 786,
          "aa_end": null,
          "aa_length": 1265,
          "cds_start": 2357,
          "cds_end": null,
          "cds_length": 3798,
          "cdna_start": 2532,
          "cdna_end": null,
          "cdna_length": 4587,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "VC",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2347_2348insTTT",
          "hgvs_p": "p.Gly783delinsValCys",
          "transcript": "NM_001382789.1",
          "protein_id": "NP_001369718.1",
          "transcript_support_level": null,
          "aa_start": 783,
          "aa_end": null,
          "aa_length": 1262,
          "cds_start": 2348,
          "cds_end": null,
          "cds_length": 3789,
          "cdna_start": 2523,
          "cdna_end": null,
          "cdna_length": 4578,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "VC",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2323_2324insTTT",
          "hgvs_p": "p.Gly775delinsValCys",
          "transcript": "NM_001382790.1",
          "protein_id": "NP_001369719.1",
          "transcript_support_level": null,
          "aa_start": 775,
          "aa_end": null,
          "aa_length": 1254,
          "cds_start": 2324,
          "cds_end": null,
          "cds_length": 3765,
          "cdna_start": 2499,
          "cdna_end": null,
          "cdna_length": 4554,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "VC",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2317_2318insTTT",
          "hgvs_p": "p.Gly773delinsValCys",
          "transcript": "NM_001382791.1",
          "protein_id": "NP_001369720.1",
          "transcript_support_level": null,
          "aa_start": 773,
          "aa_end": null,
          "aa_length": 1252,
          "cds_start": 2318,
          "cds_end": null,
          "cds_length": 3759,
          "cdna_start": 2493,
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          "cdna_length": 4548,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "VC",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2290_2291insTTT",
          "hgvs_p": "p.Gly764delinsValCys",
          "transcript": "NM_001382792.1",
          "protein_id": "NP_001369721.1",
          "transcript_support_level": null,
          "aa_start": 764,
          "aa_end": null,
          "aa_length": 1243,
          "cds_start": 2291,
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          "cdna_start": 2466,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
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          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2284_2285insTTT",
          "hgvs_p": "p.Gly762delinsValCys",
          "transcript": "NM_001382793.1",
          "protein_id": "NP_001369722.1",
          "transcript_support_level": null,
          "aa_start": 762,
          "aa_end": null,
          "aa_length": 1241,
          "cds_start": 2285,
          "cds_end": null,
          "cds_length": 3726,
          "cdna_start": 2460,
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          "cdna_length": 4515,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "VC",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2284_2285insTTT",
          "hgvs_p": "p.Gly762delinsValCys",
          "transcript": "NM_001382794.1",
          "protein_id": "NP_001369723.1",
          "transcript_support_level": null,
          "aa_start": 762,
          "aa_end": null,
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          "cds_start": 2285,
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          "cdna_start": 2460,
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          "cdna_length": 4515,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "VC",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2281_2282insTTT",
          "hgvs_p": "p.Gly761delinsValCys",
          "transcript": "NM_001289936.2",
          "protein_id": "NP_001276865.1",
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          "aa_start": 761,
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          "cds_start": 2282,
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          "cdna_start": 2854,
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          "cdna_length": 4909,
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          "feature": null
        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
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          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2281_2282insTTT",
          "hgvs_p": "p.Gly761delinsValCys",
          "transcript": "ENST00000541774.5",
          "protein_id": "ENSP00000446466.1",
          "transcript_support_level": 5,
          "aa_start": 761,
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          "cds_start": 2282,
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          "cdna_start": 2282,
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          "cdna_length": 4341,
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        },
        {
          "aa_ref": "G",
          "aa_alt": "VC",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2278_2279insTTT",
          "hgvs_p": "p.Gly760delinsValCys",
          "transcript": "NM_001382795.1",
          "protein_id": "NP_001369724.1",
          "transcript_support_level": null,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 1239,
          "cds_start": 2279,
          "cds_end": null,
          "cds_length": 3720,
          "cdna_start": 2454,
          "cdna_end": null,
          "cdna_length": 4509,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "VC",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2326_2327insTTT",
          "hgvs_p": "p.Gly776delinsValCys",
          "transcript": "NM_001382796.1",
          "protein_id": "NP_001369725.1",
          "transcript_support_level": null,
          "aa_start": 776,
          "aa_end": null,
          "aa_length": 1226,
          "cds_start": 2327,
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          "aa_end": null,
          "aa_length": 938,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2817,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3606,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "ERBB2",
      "gene_hgnc_id": 3430,
      "dbsnp": "rs397516979",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": null,
      "computational_prediction_selected": null,
      "computational_source_selected": null,
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": null,
      "bayesdelnoaf_prediction": null,
      "phylop100way_score": 8.065,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 8,
      "acmg_classification": "Likely_pathogenic",
      "acmg_criteria": "PM1,PM2,PM4_Supporting,PP3,PP5_Moderate",
      "acmg_by_gene": [
        {
          "score": 8,
          "benign_score": 0,
          "pathogenic_score": 8,
          "criteria": [
            "PM1",
            "PM2",
            "PM4_Supporting",
            "PP3",
            "PP5_Moderate"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "ENST00000269571.10",
          "gene_symbol": "ERBB2",
          "hgnc_id": 3430,
          "effects": [
            "disruptive_inframe_insertion"
          ],
          "inheritance_mode": "Unknown,AD",
          "hgvs_c": "c.2326_2327insTTT",
          "hgvs_p": "p.Gly776delinsValCys"
        }
      ],
      "clinvar_disease": "Non-small cell lung carcinoma",
      "clinvar_classification": "Likely pathogenic",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LP:1",
      "phenotype_combined": "Non-small cell lung carcinoma",
      "pathogenicity_classification_combined": "Likely pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}