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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: 19-42401821-CCCCCCGCAGCCCCCGTCTA-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=42401821&ref=CCCCCCGCAGCCCCCGTCTA&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 42401821,
      "ref": "CCCCCCGCAGCCCCCGTCTA",
      "alt": "C",
      "effect": "frameshift_variant",
      "transcript": "NM_005357.4",
      "consequences": [
        {
          "aa_ref": "VDGGCGG",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE",
          "gene_hgnc_id": 6621,
          "hgvs_c": "c.3203_3221delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val1068fs",
          "transcript": "NM_005357.4",
          "protein_id": "NP_005348.2",
          "transcript_support_level": null,
          "aa_start": 1068,
          "aa_end": null,
          "aa_length": 1076,
          "cds_start": 3203,
          "cds_end": null,
          "cds_length": 3231,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000244289.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005357.4"
        },
        {
          "aa_ref": "VDGGCGG",
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE",
          "gene_hgnc_id": 6621,
          "hgvs_c": "c.3203_3221delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val1068fs",
          "transcript": "ENST00000244289.9",
          "protein_id": "ENSP00000244289.3",
          "transcript_support_level": 1,
          "aa_start": 1068,
          "aa_end": null,
          "aa_length": 1076,
          "cds_start": 3203,
          "cds_end": null,
          "cds_length": 3231,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_005357.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000244289.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LIPE-AS1",
          "gene_hgnc_id": 48589,
          "hgvs_c": "n.105+4616_105+4634delACCCCCGCAGCCCCCGTCT",
          "hgvs_p": null,
          "transcript": "ENST00000594624.8",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": "ENST00000594624.8"
        },
        {
          "aa_ref": "VDGGCGG",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE",
          "gene_hgnc_id": 6621,
          "hgvs_c": "c.3227_3245delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val1076fs",
          "transcript": "ENST00000599918.2",
          "protein_id": "ENSP00000472218.2",
          "transcript_support_level": 5,
          "aa_start": 1076,
          "aa_end": null,
          "aa_length": 1084,
          "cds_start": 3227,
          "cds_end": null,
          "cds_length": 3255,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000599918.2"
        },
        {
          "aa_ref": "VDGGCGG",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE",
          "gene_hgnc_id": 6621,
          "hgvs_c": "c.2975_2993delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val992fs",
          "transcript": "ENST00000597620.6",
          "protein_id": "ENSP00000469545.2",
          "transcript_support_level": 3,
          "aa_start": 992,
          "aa_end": null,
          "aa_length": 1000,
          "cds_start": 2975,
          "cds_end": null,
          "cds_length": 3003,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000597620.6"
        },
        {
          "aa_ref": "VDGGCGG",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE",
          "gene_hgnc_id": 6621,
          "hgvs_c": "c.2453_2471delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val818fs",
          "transcript": "NM_001416100.1",
          "protein_id": "NP_001403029.1",
          "transcript_support_level": null,
          "aa_start": 818,
          "aa_end": null,
          "aa_length": 826,
          "cds_start": 2453,
          "cds_end": null,
          "cds_length": 2481,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001416100.1"
        },
        {
          "aa_ref": "VDGGCGG",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE",
          "gene_hgnc_id": 6621,
          "hgvs_c": "c.2438_2456delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val813fs",
          "transcript": "NM_001416101.1",
          "protein_id": "NP_001403030.1",
          "transcript_support_level": null,
          "aa_start": 813,
          "aa_end": null,
          "aa_length": 821,
          "cds_start": 2438,
          "cds_end": null,
          "cds_length": 2466,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001416101.1"
        },
        {
          "aa_ref": "VDGGCGG",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE",
          "gene_hgnc_id": 6621,
          "hgvs_c": "c.2333_2351delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val778fs",
          "transcript": "NM_001416102.1",
          "protein_id": "NP_001403031.1",
          "transcript_support_level": null,
          "aa_start": 778,
          "aa_end": null,
          "aa_length": 786,
          "cds_start": 2333,
          "cds_end": null,
          "cds_length": 2361,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001416102.1"
        },
        {
          "aa_ref": "VDGGCGG",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE",
          "gene_hgnc_id": 6621,
          "hgvs_c": "c.2300_2318delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val767fs",
          "transcript": "NM_001416103.1",
          "protein_id": "NP_001403032.1",
          "transcript_support_level": null,
          "aa_start": 767,
          "aa_end": null,
          "aa_length": 775,
          "cds_start": 2300,
          "cds_end": null,
          "cds_length": 2328,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001416103.1"
        },
        {
          "aa_ref": "VDGGCGG",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE",
          "gene_hgnc_id": 6621,
          "hgvs_c": "c.2300_2318delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val767fs",
          "transcript": "NM_001416104.1",
          "protein_id": "NP_001403033.1",
          "transcript_support_level": null,
          "aa_start": 767,
          "aa_end": null,
          "aa_length": 775,
          "cds_start": 2300,
          "cds_end": null,
          "cds_length": 2328,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001416104.1"
        },
        {
          "aa_ref": "VDGGCGG",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE",
          "gene_hgnc_id": 6621,
          "hgvs_c": "c.2210_2228delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val737fs",
          "transcript": "NM_001416105.1",
          "protein_id": "NP_001403034.1",
          "transcript_support_level": null,
          "aa_start": 737,
          "aa_end": null,
          "aa_length": 745,
          "cds_start": 2210,
          "cds_end": null,
          "cds_length": 2238,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001416105.1"
        },
        {
          "aa_ref": "VDGGCGG",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE",
          "gene_hgnc_id": 6621,
          "hgvs_c": "c.2105_2123delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val702fs",
          "transcript": "NM_001416106.1",
          "protein_id": "NP_001403035.1",
          "transcript_support_level": null,
          "aa_start": 702,
          "aa_end": null,
          "aa_length": 710,
          "cds_start": 2105,
          "cds_end": null,
          "cds_length": 2133,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001416106.1"
        },
        {
          "aa_ref": "VDGGCGG",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE",
          "gene_hgnc_id": 6621,
          "hgvs_c": "c.1616_1634delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val539fs",
          "transcript": "NM_001416107.1",
          "protein_id": "NP_001403036.1",
          "transcript_support_level": null,
          "aa_start": 539,
          "aa_end": null,
          "aa_length": 547,
          "cds_start": 1616,
          "cds_end": null,
          "cds_length": 1644,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001416107.1"
        },
        {
          "aa_ref": "VDGGCGG",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE",
          "gene_hgnc_id": 6621,
          "hgvs_c": "c.1562_1580delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val521fs",
          "transcript": "NM_001416108.1",
          "protein_id": "NP_001403037.1",
          "transcript_support_level": null,
          "aa_start": 521,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": 1562,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001416108.1"
        },
        {
          "aa_ref": "VDGGCGG",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE",
          "gene_hgnc_id": 6621,
          "hgvs_c": "c.2975_2993delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val992fs",
          "transcript": "XM_005258937.4",
          "protein_id": "XP_005258994.1",
          "transcript_support_level": null,
          "aa_start": 992,
          "aa_end": null,
          "aa_length": 1000,
          "cds_start": 2975,
          "cds_end": null,
          "cds_length": 3003,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005258937.4"
        },
        {
          "aa_ref": "VDGGCGG",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE",
          "gene_hgnc_id": 6621,
          "hgvs_c": "c.2489_2507delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val830fs",
          "transcript": "XM_005258939.4",
          "protein_id": "XP_005258996.2",
          "transcript_support_level": null,
          "aa_start": 830,
          "aa_end": null,
          "aa_length": 838,
          "cds_start": 2489,
          "cds_end": null,
          "cds_length": 2517,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005258939.4"
        },
        {
          "aa_ref": "VDGGCGG",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE",
          "gene_hgnc_id": 6621,
          "hgvs_c": "c.2300_2318delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val767fs",
          "transcript": "XM_006723218.4",
          "protein_id": "XP_006723281.1",
          "transcript_support_level": null,
          "aa_start": 767,
          "aa_end": null,
          "aa_length": 775,
          "cds_start": 2300,
          "cds_end": null,
          "cds_length": 2328,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_006723218.4"
        },
        {
          "aa_ref": "VDGGCGG",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE",
          "gene_hgnc_id": 6621,
          "hgvs_c": "c.2300_2318delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val767fs",
          "transcript": "XM_047438835.1",
          "protein_id": "XP_047294791.1",
          "transcript_support_level": null,
          "aa_start": 767,
          "aa_end": null,
          "aa_length": 775,
          "cds_start": 2300,
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          "cds_length": 2328,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047438835.1"
        },
        {
          "aa_ref": "VDGGCGG",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE",
          "gene_hgnc_id": 6621,
          "hgvs_c": "c.2261_2279delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val754fs",
          "transcript": "XM_047438836.1",
          "protein_id": "XP_047294792.1",
          "transcript_support_level": null,
          "aa_start": 754,
          "aa_end": null,
          "aa_length": 762,
          "cds_start": 2261,
          "cds_end": null,
          "cds_length": 2289,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047438836.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
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          "gene_symbol": "LIPE-AS1",
          "gene_hgnc_id": 48589,
          "hgvs_c": "n.-24_-6delCCCCCGCAGCCCCCGTCTA",
          "hgvs_p": null,
          "transcript": "ENST00000750197.1",
          "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": "ENST00000750197.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIPE-AS1",
          "gene_hgnc_id": 48589,
          "hgvs_c": "n.-143_-125delCCCCCGCAGCCCCCGTCTA",
          "hgvs_p": null,
          "transcript": "ENST00000750198.1",
          "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": "ENST00000750198.1"
        }
      ],
      "gene_symbol": "LIPE",
      "gene_hgnc_id": 6621,
      "dbsnp": "rs587777699",
      "frequency_reference_population": 0.0005662738,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 86,
      "gnomad_exomes_af": 0.000467051,
      "gnomad_genomes_af": 0.000566274,
      "gnomad_exomes_ac": 620,
      "gnomad_genomes_ac": 86,
      "gnomad_exomes_homalt": 1,
      "gnomad_genomes_homalt": 0,
      "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": 1.871,
      "phylop100way_prediction": "Benign",
      "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": 7,
      "acmg_classification": "Likely_pathogenic",
      "acmg_criteria": "PVS1_Moderate,PS3,PP5",
      "acmg_by_gene": [
        {
          "score": 7,
          "benign_score": 0,
          "pathogenic_score": 7,
          "criteria": [
            "PVS1_Moderate",
            "PS3",
            "PP5"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "NM_005357.4",
          "gene_symbol": "LIPE",
          "hgnc_id": 6621,
          "effects": [
            "frameshift_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.3203_3221delTAGACGGGGGCTGCGGGGG",
          "hgvs_p": "p.Val1068fs"
        },
        {
          "score": 5,
          "benign_score": 0,
          "pathogenic_score": 5,
          "criteria": [
            "PS3",
            "PP5"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000750195.1",
          "gene_symbol": "LIPE-AS1",
          "hgnc_id": 48589,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.124_142delACCCCCGCAGCCCCCGTCT",
          "hgvs_p": null
        },
        {
          "score": 5,
          "benign_score": 0,
          "pathogenic_score": 5,
          "criteria": [
            "PS3",
            "PP5"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NR_126041.1",
          "gene_symbol": "LOC101930071",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.97+4616_97+4634delACCCCCGCAGCCCCCGTCT",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "LIPE-related disorder,LIPE-related familial partial lipodystrophy",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "P:1 LP:2 US:1",
      "phenotype_combined": "LIPE-related familial partial lipodystrophy|LIPE-related disorder",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}
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