← Back to variant description

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: 16-23623067-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=23623067&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 23623067,
      "ref": "T",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000261584.9",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2898A>T",
          "hgvs_p": "p.Ile966Ile",
          "transcript": "NM_024675.4",
          "protein_id": "NP_078951.2",
          "transcript_support_level": null,
          "aa_start": 966,
          "aa_end": null,
          "aa_length": 1186,
          "cds_start": 2898,
          "cds_end": null,
          "cds_length": 3561,
          "cdna_start": 3051,
          "cdna_end": null,
          "cdna_length": 4008,
          "mane_select": "ENST00000261584.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2898A>T",
          "hgvs_p": "p.Ile966Ile",
          "transcript": "ENST00000261584.9",
          "protein_id": "ENSP00000261584.4",
          "transcript_support_level": 1,
          "aa_start": 966,
          "aa_end": null,
          "aa_length": 1186,
          "cds_start": 2898,
          "cds_end": null,
          "cds_length": 3561,
          "cdna_start": 3051,
          "cdna_end": null,
          "cdna_length": 4008,
          "mane_select": "NM_024675.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2013A>T",
          "hgvs_p": "p.Ile671Ile",
          "transcript": "ENST00000568219.5",
          "protein_id": "ENSP00000454703.2",
          "transcript_support_level": 1,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 891,
          "cds_start": 2013,
          "cds_end": null,
          "cds_length": 2676,
          "cdna_start": 3009,
          "cdna_end": null,
          "cdna_length": 3963,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2904A>T",
          "hgvs_p": "p.Ile968Ile",
          "transcript": "ENST00000561514.3",
          "protein_id": "ENSP00000460666.3",
          "transcript_support_level": 5,
          "aa_start": 968,
          "aa_end": null,
          "aa_length": 1188,
          "cds_start": 2904,
          "cds_end": null,
          "cds_length": 3567,
          "cdna_start": 3903,
          "cdna_end": null,
          "cdna_length": 4825,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2904A>T",
          "hgvs_p": "p.Ile968Ile",
          "transcript": "ENST00000697379.2",
          "protein_id": "ENSP00000513287.2",
          "transcript_support_level": null,
          "aa_start": 968,
          "aa_end": null,
          "aa_length": 1188,
          "cds_start": 2904,
          "cds_end": null,
          "cds_length": 3567,
          "cdna_start": 3203,
          "cdna_end": null,
          "cdna_length": 4125,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2838A>T",
          "hgvs_p": "p.Ile946Ile",
          "transcript": "NM_001407296.1",
          "protein_id": "NP_001394225.1",
          "transcript_support_level": null,
          "aa_start": 946,
          "aa_end": null,
          "aa_length": 1166,
          "cds_start": 2838,
          "cds_end": null,
          "cds_length": 3501,
          "cdna_start": 2991,
          "cdna_end": null,
          "cdna_length": 3948,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2826A>T",
          "hgvs_p": "p.Ile942Ile",
          "transcript": "NM_001407297.1",
          "protein_id": "NP_001394226.1",
          "transcript_support_level": null,
          "aa_start": 942,
          "aa_end": null,
          "aa_length": 1162,
          "cds_start": 2826,
          "cds_end": null,
          "cds_length": 3489,
          "cdna_start": 2979,
          "cdna_end": null,
          "cdna_length": 3936,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2742A>T",
          "hgvs_p": "p.Ile914Ile",
          "transcript": "ENST00000697377.2",
          "protein_id": "ENSP00000513286.2",
          "transcript_support_level": null,
          "aa_start": 914,
          "aa_end": null,
          "aa_length": 1134,
          "cds_start": 2742,
          "cds_end": null,
          "cds_length": 3405,
          "cdna_start": 3135,
          "cdna_end": null,
          "cdna_length": 4058,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2736A>T",
          "hgvs_p": "p.Ile912Ile",
          "transcript": "NM_001407298.1",
          "protein_id": "NP_001394227.1",
          "transcript_support_level": null,
          "aa_start": 912,
          "aa_end": null,
          "aa_length": 1132,
          "cds_start": 2736,
          "cds_end": null,
          "cds_length": 3399,
          "cdna_start": 2889,
          "cdna_end": null,
          "cdna_length": 3846,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2898A>T",
          "hgvs_p": "p.Ile966Ile",
          "transcript": "NM_001407299.1",
          "protein_id": "NP_001394228.1",
          "transcript_support_level": null,
          "aa_start": 966,
          "aa_end": null,
          "aa_length": 1107,
          "cds_start": 2898,
          "cds_end": null,
          "cds_length": 3324,
          "cdna_start": 3051,
          "cdna_end": null,
          "cdna_length": 3771,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2898A>T",
          "hgvs_p": "p.Ile966Ile",
          "transcript": "ENST00000713774.1",
          "protein_id": "ENSP00000519076.1",
          "transcript_support_level": null,
          "aa_start": 966,
          "aa_end": null,
          "aa_length": 1107,
          "cds_start": 2898,
          "cds_end": null,
          "cds_length": 3324,
          "cdna_start": 3052,
          "cdna_end": null,
          "cdna_length": 3754,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2898A>T",
          "hgvs_p": "p.Ile966Ile",
          "transcript": "NM_001407301.1",
          "protein_id": "NP_001394230.1",
          "transcript_support_level": null,
          "aa_start": 966,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": 2898,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": 3051,
          "cdna_end": null,
          "cdna_length": 3859,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2898A>T",
          "hgvs_p": "p.Ile966Ile",
          "transcript": "ENST00000566069.6",
          "protein_id": "ENSP00000459237.2",
          "transcript_support_level": 5,
          "aa_start": 966,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": 2898,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": 3037,
          "cdna_end": null,
          "cdna_length": 3850,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2736A>T",
          "hgvs_p": "p.Ile912Ile",
          "transcript": "NM_001407302.1",
          "protein_id": "NP_001394231.1",
          "transcript_support_level": null,
          "aa_start": 912,
          "aa_end": null,
          "aa_length": 1017,
          "cds_start": 2736,
          "cds_end": null,
          "cds_length": 3054,
          "cdna_start": 2889,
          "cdna_end": null,
          "cdna_length": 3697,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2013A>T",
          "hgvs_p": "p.Ile671Ile",
          "transcript": "NM_001407304.1",
          "protein_id": "NP_001394233.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 891,
          "cds_start": 2013,
          "cds_end": null,
          "cds_length": 2676,
          "cdna_start": 3909,
          "cdna_end": null,
          "cdna_length": 4866,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2013A>T",
          "hgvs_p": "p.Ile671Ile",
          "transcript": "NM_001407305.1",
          "protein_id": "NP_001394234.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 891,
          "cds_start": 2013,
          "cds_end": null,
          "cds_length": 2676,
          "cdna_start": 3185,
          "cdna_end": null,
          "cdna_length": 4142,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2013A>T",
          "hgvs_p": "p.Ile671Ile",
          "transcript": "NM_001407306.1",
          "protein_id": "NP_001394235.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 891,
          "cds_start": 2013,
          "cds_end": null,
          "cds_length": 2676,
          "cdna_start": 3034,
          "cdna_end": null,
          "cdna_length": 3991,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2013A>T",
          "hgvs_p": "p.Ile671Ile",
          "transcript": "ENST00000697374.1",
          "protein_id": "ENSP00000513284.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 891,
          "cds_start": 2013,
          "cds_end": null,
          "cds_length": 2676,
          "cdna_start": 3421,
          "cdna_end": null,
          "cdna_length": 4361,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.1851A>T",
          "hgvs_p": "p.Ile617Ile",
          "transcript": "NM_001407307.1",
          "protein_id": "NP_001394236.1",
          "transcript_support_level": null,
          "aa_start": 617,
          "aa_end": null,
          "aa_length": 837,
          "cds_start": 1851,
          "cds_end": null,
          "cds_length": 2514,
          "cdna_start": 3023,
          "cdna_end": null,
          "cdna_length": 3980,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2013A>T",
          "hgvs_p": "p.Ile671Ile",
          "transcript": "NM_001407308.1",
          "protein_id": "NP_001394237.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 812,
          "cds_start": 2013,
          "cds_end": null,
          "cds_length": 2439,
          "cdna_start": 3034,
          "cdna_end": null,
          "cdna_length": 3754,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2013A>T",
          "hgvs_p": "p.Ile671Ile",
          "transcript": "NM_001407309.1",
          "protein_id": "NP_001394238.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 812,
          "cds_start": 2013,
          "cds_end": null,
          "cds_length": 2439,
          "cdna_start": 3185,
          "cdna_end": null,
          "cdna_length": 3905,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2013A>T",
          "hgvs_p": "p.Ile671Ile",
          "transcript": "NM_001407310.1",
          "protein_id": "NP_001394239.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 776,
          "cds_start": 2013,
          "cds_end": null,
          "cds_length": 2331,
          "cdna_start": 3909,
          "cdna_end": null,
          "cdna_length": 4717,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2013A>T",
          "hgvs_p": "p.Ile671Ile",
          "transcript": "NM_001407311.1",
          "protein_id": "NP_001394240.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 776,
          "cds_start": 2013,
          "cds_end": null,
          "cds_length": 2331,
          "cdna_start": 3185,
          "cdna_end": null,
          "cdna_length": 3993,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2013A>T",
          "hgvs_p": "p.Ile671Ile",
          "transcript": "ENST00000697376.1",
          "protein_id": "ENSP00000513285.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 776,
          "cds_start": 2013,
          "cds_end": null,
          "cds_length": 2331,
          "cdna_start": 3200,
          "cdna_end": null,
          "cdna_length": 3974,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.1110A>T",
          "hgvs_p": "p.Ile370Ile",
          "transcript": "NM_001407312.1",
          "protein_id": "NP_001394241.1",
          "transcript_support_level": null,
          "aa_start": 370,
          "aa_end": null,
          "aa_length": 590,
          "cds_start": 1110,
          "cds_end": null,
          "cds_length": 1773,
          "cdna_start": 1415,
          "cdna_end": null,
          "cdna_length": 2372,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.1110A>T",
          "hgvs_p": "p.Ile370Ile",
          "transcript": "NM_001407313.1",
          "protein_id": "NP_001394242.1",
          "transcript_support_level": null,
          "aa_start": 370,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 1110,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": 1415,
          "cdna_end": null,
          "cdna_length": 2223,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.432A>T",
          "hgvs_p": "p.Ile144Ile",
          "transcript": "NM_001407314.1",
          "protein_id": "NP_001394243.1",
          "transcript_support_level": null,
          "aa_start": 144,
          "aa_end": null,
          "aa_length": 364,
          "cds_start": 432,
          "cds_end": null,
          "cds_length": 1095,
          "cdna_start": 585,
          "cdna_end": null,
          "cdna_length": 1542,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.432A>T",
          "hgvs_p": "p.Ile144Ile",
          "transcript": "ENST00000697383.1",
          "protein_id": "ENSP00000513289.1",
          "transcript_support_level": null,
          "aa_start": 144,
          "aa_end": null,
          "aa_length": 364,
          "cds_start": 432,
          "cds_end": null,
          "cds_length": 1095,
          "cdna_start": 596,
          "cdna_end": null,
          "cdna_length": 1412,
          "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": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "n.*379A>T",
          "hgvs_p": null,
          "transcript": "ENST00000565038.2",
          "protein_id": "ENSP00000459882.2",
          "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": 1630,
          "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": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "n.4245A>T",
          "hgvs_p": null,
          "transcript": "ENST00000697375.1",
          "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": 5177,
          "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": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "n.3418A>T",
          "hgvs_p": null,
          "transcript": "ENST00000697378.1",
          "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": 4340,
          "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": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "n.2190A>T",
          "hgvs_p": null,
          "transcript": "ENST00000697380.1",
          "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": 3017,
          "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": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "n.1593A>T",
          "hgvs_p": null,
          "transcript": "ENST00000697381.1",
          "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": 2508,
          "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": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "n.2013A>T",
          "hgvs_p": null,
          "transcript": "ENST00000697382.1",
          "protein_id": "ENSP00000513288.1",
          "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": 4751,
          "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": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "n.*287A>T",
          "hgvs_p": null,
          "transcript": "ENST00000713772.1",
          "protein_id": "ENSP00000519074.1",
          "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": 3979,
          "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": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "n.2898A>T",
          "hgvs_p": null,
          "transcript": "ENST00000713773.1",
          "protein_id": "ENSP00000519075.1",
          "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": 4070,
          "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": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "n.*379A>T",
          "hgvs_p": null,
          "transcript": "ENST00000565038.2",
          "protein_id": "ENSP00000459882.2",
          "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": 1630,
          "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": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "n.*287A>T",
          "hgvs_p": null,
          "transcript": "ENST00000713772.1",
          "protein_id": "ENSP00000519074.1",
          "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": 3979,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2834+942A>T",
          "hgvs_p": null,
          "transcript": "NM_001407300.1",
          "protein_id": "NP_001394229.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1093,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3282,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3729,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000261723",
          "gene_hgnc_id": 58305,
          "hgvs_c": "n.420-833T>A",
          "hgvs_p": null,
          "transcript": "ENST00000561764.1",
          "protein_id": null,
          "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": 627,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "PALB2",
      "gene_hgnc_id": 26144,
      "dbsnp": "rs1555459563",
      "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": -0.44999998807907104,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.45,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.069,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -3,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -3,
          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate",
            "BP6_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000261584.9",
          "gene_symbol": "PALB2",
          "hgnc_id": 26144,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.2898A>T",
          "hgvs_p": "p.Ile966Ile"
        },
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate",
            "BP6_Moderate"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000561764.1",
          "gene_symbol": "ENSG00000261723",
          "hgnc_id": 58305,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.420-833T>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Hereditary cancer-predisposing syndrome",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "Hereditary cancer-predisposing syndrome",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}