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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: 7-131504415-T-TCTC (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=131504415&ref=T&alt=TCTC&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 131504415,
      "ref": "T",
      "alt": "TCTC",
      "effect": "conservative_inframe_insertion",
      "transcript": "NM_001018111.3",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.1570_1572dupGAG",
          "hgvs_p": "p.Glu524dup",
          "transcript": "NM_001018111.3",
          "protein_id": "NP_001018121.1",
          "transcript_support_level": null,
          "aa_start": 524,
          "aa_end": null,
          "aa_length": 558,
          "cds_start": 1572,
          "cds_end": null,
          "cds_length": 1677,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000378555.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001018111.3"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.1570_1572dupGAG",
          "hgvs_p": "p.Glu524dup",
          "transcript": "ENST00000378555.8",
          "protein_id": "ENSP00000367817.3",
          "transcript_support_level": 1,
          "aa_start": 524,
          "aa_end": null,
          "aa_length": 558,
          "cds_start": 1572,
          "cds_end": null,
          "cds_length": 1677,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001018111.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000378555.8"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.1474_1476dupGAG",
          "hgvs_p": "p.Glu492dup",
          "transcript": "ENST00000322985.9",
          "protein_id": "ENSP00000319782.9",
          "transcript_support_level": 1,
          "aa_start": 492,
          "aa_end": null,
          "aa_length": 526,
          "cds_start": 1476,
          "cds_end": null,
          "cds_length": 1581,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000322985.9"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.1690_1692dupGAG",
          "hgvs_p": "p.Glu564dup",
          "transcript": "ENST00000923671.1",
          "protein_id": "ENSP00000593730.1",
          "transcript_support_level": null,
          "aa_start": 564,
          "aa_end": null,
          "aa_length": 598,
          "cds_start": 1692,
          "cds_end": null,
          "cds_length": 1797,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923671.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.1612_1614dupGAG",
          "hgvs_p": "p.Glu538dup",
          "transcript": "ENST00000923670.1",
          "protein_id": "ENSP00000593729.1",
          "transcript_support_level": null,
          "aa_start": 538,
          "aa_end": null,
          "aa_length": 572,
          "cds_start": 1614,
          "cds_end": null,
          "cds_length": 1719,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923670.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.1594_1596dupGAG",
          "hgvs_p": "p.Glu532dup",
          "transcript": "ENST00000875720.1",
          "protein_id": "ENSP00000545779.1",
          "transcript_support_level": null,
          "aa_start": 532,
          "aa_end": null,
          "aa_length": 566,
          "cds_start": 1596,
          "cds_end": null,
          "cds_length": 1701,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875720.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.1591_1593dupGAG",
          "hgvs_p": "p.Glu531dup",
          "transcript": "ENST00000875721.1",
          "protein_id": "ENSP00000545780.1",
          "transcript_support_level": null,
          "aa_start": 531,
          "aa_end": null,
          "aa_length": 565,
          "cds_start": 1593,
          "cds_end": null,
          "cds_length": 1698,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875721.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.1567_1569dupGAG",
          "hgvs_p": "p.Glu523dup",
          "transcript": "ENST00000875716.1",
          "protein_id": "ENSP00000545775.1",
          "transcript_support_level": null,
          "aa_start": 523,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": 1569,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875716.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.1567_1569dupGAG",
          "hgvs_p": "p.Glu523dup",
          "transcript": "ENST00000875719.1",
          "protein_id": "ENSP00000545778.1",
          "transcript_support_level": null,
          "aa_start": 523,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": 1569,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875719.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.1564_1566dupGAG",
          "hgvs_p": "p.Glu522dup",
          "transcript": "ENST00000875717.1",
          "protein_id": "ENSP00000545776.1",
          "transcript_support_level": null,
          "aa_start": 522,
          "aa_end": null,
          "aa_length": 556,
          "cds_start": 1566,
          "cds_end": null,
          "cds_length": 1671,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875717.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.1516_1518dupGAG",
          "hgvs_p": "p.Glu506dup",
          "transcript": "ENST00000923667.1",
          "protein_id": "ENSP00000593726.1",
          "transcript_support_level": null,
          "aa_start": 506,
          "aa_end": null,
          "aa_length": 540,
          "cds_start": 1518,
          "cds_end": null,
          "cds_length": 1623,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923667.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.1513_1515dupGAG",
          "hgvs_p": "p.Glu505dup",
          "transcript": "ENST00000923669.1",
          "protein_id": "ENSP00000593728.1",
          "transcript_support_level": null,
          "aa_start": 505,
          "aa_end": null,
          "aa_length": 539,
          "cds_start": 1515,
          "cds_end": null,
          "cds_length": 1620,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923669.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.1486_1488dupGAG",
          "hgvs_p": "p.Glu496dup",
          "transcript": "ENST00000923675.1",
          "protein_id": "ENSP00000593734.1",
          "transcript_support_level": null,
          "aa_start": 496,
          "aa_end": null,
          "aa_length": 530,
          "cds_start": 1488,
          "cds_end": null,
          "cds_length": 1593,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923675.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.1474_1476dupGAG",
          "hgvs_p": "p.Glu492dup",
          "transcript": "NM_005397.4",
          "protein_id": "NP_005388.2",
          "transcript_support_level": null,
          "aa_start": 492,
          "aa_end": null,
          "aa_length": 526,
          "cds_start": 1476,
          "cds_end": null,
          "cds_length": 1581,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005397.4"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.1471_1473dupGAG",
          "hgvs_p": "p.Glu491dup",
          "transcript": "ENST00000875715.1",
          "protein_id": "ENSP00000545774.1",
          "transcript_support_level": null,
          "aa_start": 491,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 1473,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875715.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.1396_1398dupGAG",
          "hgvs_p": "p.Glu466dup",
          "transcript": "ENST00000923672.1",
          "protein_id": "ENSP00000593731.1",
          "transcript_support_level": null,
          "aa_start": 466,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": 1398,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923672.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.868_870dupGAG",
          "hgvs_p": "p.Glu290dup",
          "transcript": "ENST00000923674.1",
          "protein_id": "ENSP00000593733.1",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 324,
          "cds_start": 870,
          "cds_end": null,
          "cds_length": 975,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923674.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.421_423dupGAG",
          "hgvs_p": "p.Glu141dup",
          "transcript": "ENST00000923673.1",
          "protein_id": "ENSP00000593732.1",
          "transcript_support_level": null,
          "aa_start": 141,
          "aa_end": null,
          "aa_length": 175,
          "cds_start": 423,
          "cds_end": null,
          "cds_length": 528,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923673.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion",
            "splice_region_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.1480_1482dupGAG",
          "hgvs_p": "p.Glu494dup",
          "transcript": "ENST00000875718.1",
          "protein_id": "ENSP00000545777.1",
          "transcript_support_level": null,
          "aa_start": 494,
          "aa_end": null,
          "aa_length": 528,
          "cds_start": 1482,
          "cds_end": null,
          "cds_length": 1587,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875718.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "EE",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_insertion",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "c.1384_1386dupGAG",
          "hgvs_p": "p.Glu462dup",
          "transcript": "ENST00000923668.1",
          "protein_id": "ENSP00000593727.1",
          "transcript_support_level": null,
          "aa_start": 462,
          "aa_end": null,
          "aa_length": 496,
          "cds_start": 1386,
          "cds_end": null,
          "cds_length": 1491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923668.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "n.*835_*837dupGAG",
          "hgvs_p": null,
          "transcript": "ENST00000446198.5",
          "protein_id": "ENSP00000390152.1",
          "transcript_support_level": 2,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000446198.5"
        },
        {
          "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": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "n.329_331dupGAG",
          "hgvs_p": null,
          "transcript": "ENST00000484346.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": "retained_intron",
          "feature": "ENST00000484346.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PODXL",
          "gene_hgnc_id": 9171,
          "hgvs_c": "n.*835_*837dupGAG",
          "hgvs_p": null,
          "transcript": "ENST00000446198.5",
          "protein_id": "ENSP00000390152.1",
          "transcript_support_level": 2,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000446198.5"
        }
      ],
      "gene_symbol": "PODXL",
      "gene_hgnc_id": 9171,
      "dbsnp": "rs779742832",
      "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": 5.781,
      "phylop100way_prediction": "Uncertain_significance",
      "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": 3,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PM4_Supporting",
      "acmg_by_gene": [
        {
          "score": 3,
          "benign_score": 0,
          "pathogenic_score": 3,
          "criteria": [
            "PM2",
            "PM4_Supporting"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001018111.3",
          "gene_symbol": "PODXL",
          "hgnc_id": 9171,
          "effects": [
            "conservative_inframe_insertion"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1570_1572dupGAG",
          "hgvs_p": "p.Glu524dup"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}