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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: 3-183034068-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=183034068&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 183034068,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000265594.9",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "c.1604C>T",
          "hgvs_p": "p.Ser535Phe",
          "transcript": "NM_020166.5",
          "protein_id": "NP_064551.3",
          "transcript_support_level": null,
          "aa_start": 535,
          "aa_end": null,
          "aa_length": 725,
          "cds_start": 1604,
          "cds_end": null,
          "cds_length": 2178,
          "cdna_start": 1660,
          "cdna_end": null,
          "cdna_length": 2454,
          "mane_select": "ENST00000265594.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "c.1604C>T",
          "hgvs_p": "p.Ser535Phe",
          "transcript": "ENST00000265594.9",
          "protein_id": "ENSP00000265594.4",
          "transcript_support_level": 1,
          "aa_start": 535,
          "aa_end": null,
          "aa_length": 725,
          "cds_start": 1604,
          "cds_end": null,
          "cds_length": 2178,
          "cdna_start": 1660,
          "cdna_end": null,
          "cdna_length": 2454,
          "mane_select": "NM_020166.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "c.1277C>T",
          "hgvs_p": "p.Ser426Phe",
          "transcript": "ENST00000492597.5",
          "protein_id": "ENSP00000419898.1",
          "transcript_support_level": 1,
          "aa_start": 426,
          "aa_end": null,
          "aa_length": 616,
          "cds_start": 1277,
          "cds_end": null,
          "cds_length": 1851,
          "cdna_start": 1980,
          "cdna_end": null,
          "cdna_length": 2774,
          "mane_select": null,
          "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": 12,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "n.*1201C>T",
          "hgvs_p": null,
          "transcript": "ENST00000497830.5",
          "protein_id": "ENSP00000420088.1",
          "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": 2227,
          "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": 12,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "n.*1201C>T",
          "hgvs_p": null,
          "transcript": "ENST00000497830.5",
          "protein_id": "ENSP00000420088.1",
          "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": 2227,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "c.1277C>T",
          "hgvs_p": "p.Ser426Phe",
          "transcript": "NM_001363880.1",
          "protein_id": "NP_001350809.1",
          "transcript_support_level": null,
          "aa_start": 426,
          "aa_end": null,
          "aa_length": 616,
          "cds_start": 1277,
          "cds_end": null,
          "cds_length": 1851,
          "cdna_start": 1614,
          "cdna_end": null,
          "cdna_length": 2408,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "c.1253C>T",
          "hgvs_p": "p.Ser418Phe",
          "transcript": "NM_001293273.2",
          "protein_id": "NP_001280202.1",
          "transcript_support_level": null,
          "aa_start": 418,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": 1253,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": 1401,
          "cdna_end": null,
          "cdna_length": 2195,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "c.1463C>T",
          "hgvs_p": "p.Ser488Phe",
          "transcript": "ENST00000476176.5",
          "protein_id": "ENSP00000420433.1",
          "transcript_support_level": 2,
          "aa_start": 488,
          "aa_end": null,
          "aa_length": 597,
          "cds_start": 1463,
          "cds_end": null,
          "cds_length": 1796,
          "cdna_start": 1573,
          "cdna_end": null,
          "cdna_length": 1906,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "c.1273C>T",
          "hgvs_p": "p.Leu425Phe",
          "transcript": "ENST00000629669.2",
          "protein_id": "ENSP00000486824.1",
          "transcript_support_level": 5,
          "aa_start": 425,
          "aa_end": null,
          "aa_length": 434,
          "cds_start": 1273,
          "cds_end": null,
          "cds_length": 1305,
          "cdna_start": 1524,
          "cdna_end": null,
          "cdna_length": 2316,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "c.1553C>T",
          "hgvs_p": "p.Ser518Phe",
          "transcript": "XM_047448586.1",
          "protein_id": "XP_047304542.1",
          "transcript_support_level": null,
          "aa_start": 518,
          "aa_end": null,
          "aa_length": 708,
          "cds_start": 1553,
          "cds_end": null,
          "cds_length": 2127,
          "cdna_start": 2238,
          "cdna_end": null,
          "cdna_length": 3032,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "c.1490C>T",
          "hgvs_p": "p.Ser497Phe",
          "transcript": "XM_011512992.3",
          "protein_id": "XP_011511294.1",
          "transcript_support_level": null,
          "aa_start": 497,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 1490,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": 2271,
          "cdna_end": null,
          "cdna_length": 3065,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "c.1277C>T",
          "hgvs_p": "p.Ser426Phe",
          "transcript": "XM_047448588.1",
          "protein_id": "XP_047304544.1",
          "transcript_support_level": null,
          "aa_start": 426,
          "aa_end": null,
          "aa_length": 616,
          "cds_start": 1277,
          "cds_end": null,
          "cds_length": 1851,
          "cdna_start": 1381,
          "cdna_end": null,
          "cdna_length": 2175,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "c.1277C>T",
          "hgvs_p": "p.Ser426Phe",
          "transcript": "XM_047448589.1",
          "protein_id": "XP_047304545.1",
          "transcript_support_level": null,
          "aa_start": 426,
          "aa_end": null,
          "aa_length": 616,
          "cds_start": 1277,
          "cds_end": null,
          "cds_length": 1851,
          "cdna_start": 1353,
          "cdna_end": null,
          "cdna_length": 2147,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "c.1604C>T",
          "hgvs_p": "p.Ser535Phe",
          "transcript": "XM_047448587.1",
          "protein_id": "XP_047304543.1",
          "transcript_support_level": null,
          "aa_start": 535,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": 1604,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": 1751,
          "cdna_end": null,
          "cdna_length": 1966,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "c.1387C>T",
          "hgvs_p": "p.Leu463Phe",
          "transcript": "XM_047448590.1",
          "protein_id": "XP_047304546.1",
          "transcript_support_level": null,
          "aa_start": 463,
          "aa_end": null,
          "aa_length": 472,
          "cds_start": 1387,
          "cds_end": null,
          "cds_length": 1419,
          "cdna_start": 1534,
          "cdna_end": null,
          "cdna_length": 1609,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "c.1336C>T",
          "hgvs_p": "p.Leu446Phe",
          "transcript": "XM_047448591.1",
          "protein_id": "XP_047304547.1",
          "transcript_support_level": null,
          "aa_start": 446,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": 1336,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": 2021,
          "cdna_end": null,
          "cdna_length": 2096,
          "mane_select": null,
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "n.148C>T",
          "hgvs_p": null,
          "transcript": "ENST00000489909.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 458,
          "mane_select": null,
          "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": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "n.*1185C>T",
          "hgvs_p": null,
          "transcript": "ENST00000495767.5",
          "protein_id": "ENSP00000419658.1",
          "transcript_support_level": 2,
          "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": 1860,
          "mane_select": null,
          "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": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "n.1273C>T",
          "hgvs_p": null,
          "transcript": "ENST00000497959.5",
          "protein_id": "ENSP00000420648.1",
          "transcript_support_level": 2,
          "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": 2874,
          "mane_select": null,
          "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": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "n.1427C>T",
          "hgvs_p": null,
          "transcript": "NR_120639.2",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2171,
          "mane_select": null,
          "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": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "n.2054C>T",
          "hgvs_p": null,
          "transcript": "NR_120640.2",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2945,
          "mane_select": null,
          "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": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "n.1751C>T",
          "hgvs_p": null,
          "transcript": "XR_007095707.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1975,
          "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": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCCC1",
          "gene_hgnc_id": 6936,
          "hgvs_c": "n.*1185C>T",
          "hgvs_p": null,
          "transcript": "ENST00000495767.5",
          "protein_id": "ENSP00000419658.1",
          "transcript_support_level": 2,
          "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": 1860,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": "LOC124906309",
          "gene_hgnc_id": null,
          "hgvs_c": "n.-84C>T",
          "hgvs_p": null,
          "transcript": "XR_007096188.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 3343,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "MCCC1",
      "gene_hgnc_id": 6936,
      "dbsnp": "rs119103216",
      "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": 0.45799416303634644,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.20999999344348907,
      "splice_prediction_selected": "Uncertain_significance",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.944,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.7448,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.55,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 9.241,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0.21,
      "spliceai_max_prediction": "Uncertain_significance",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 3,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP5",
      "acmg_by_gene": [
        {
          "score": 3,
          "benign_score": 0,
          "pathogenic_score": 3,
          "criteria": [
            "PM2",
            "PP5"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000265594.9",
          "gene_symbol": "MCCC1",
          "hgnc_id": 6936,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1604C>T",
          "hgvs_p": "p.Ser535Phe"
        },
        {
          "score": 3,
          "benign_score": 0,
          "pathogenic_score": 3,
          "criteria": [
            "PM2",
            "PP5"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "XR_007096188.1",
          "gene_symbol": "LOC124906309",
          "hgnc_id": null,
          "effects": [
            "upstream_gene_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.-84C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "3-methylcrotonyl-CoA carboxylase 1 deficiency",
      "clinvar_classification": "Pathogenic",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "3-methylcrotonyl-CoA carboxylase 1 deficiency",
      "pathogenicity_classification_combined": "Pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}