← 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: 12-47789897-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=47789897&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 47789897,
      "ref": "A",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "NM_001368046.1",
      "consequences": [
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.2007T>C",
          "hgvs_p": "p.Asn669Asn",
          "transcript": "NM_015401.5",
          "protein_id": "NP_056216.2",
          "transcript_support_level": null,
          "aa_start": 669,
          "aa_end": null,
          "aa_length": 991,
          "cds_start": 2007,
          "cds_end": null,
          "cds_length": 2976,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000080059.12",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015401.5"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.2007T>C",
          "hgvs_p": "p.Asn669Asn",
          "transcript": "ENST00000080059.12",
          "protein_id": "ENSP00000080059.7",
          "transcript_support_level": 1,
          "aa_start": 669,
          "aa_end": null,
          "aa_length": 991,
          "cds_start": 2007,
          "cds_end": null,
          "cds_length": 2976,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_015401.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000080059.12"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.2058T>C",
          "hgvs_p": "p.Asn686Asn",
          "transcript": "ENST00000380610.8",
          "protein_id": "ENSP00000369984.4",
          "transcript_support_level": 2,
          "aa_start": 686,
          "aa_end": null,
          "aa_length": 1014,
          "cds_start": 2058,
          "cds_end": null,
          "cds_length": 3045,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000380610.8"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.1896T>C",
          "hgvs_p": "p.Asn632Asn",
          "transcript": "ENST00000354334.7",
          "protein_id": "ENSP00000351326.3",
          "transcript_support_level": 1,
          "aa_start": 632,
          "aa_end": null,
          "aa_length": 954,
          "cds_start": 1896,
          "cds_end": null,
          "cds_length": 2865,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000354334.7"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.2007T>C",
          "hgvs_p": "p.Asn669Asn",
          "transcript": "ENST00000903438.1",
          "protein_id": "ENSP00000573497.1",
          "transcript_support_level": null,
          "aa_start": 669,
          "aa_end": null,
          "aa_length": 1019,
          "cds_start": 2007,
          "cds_end": null,
          "cds_length": 3060,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903438.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.2007T>C",
          "hgvs_p": "p.Asn669Asn",
          "transcript": "ENST00000903432.1",
          "protein_id": "ENSP00000573491.1",
          "transcript_support_level": null,
          "aa_start": 669,
          "aa_end": null,
          "aa_length": 1011,
          "cds_start": 2007,
          "cds_end": null,
          "cds_length": 3036,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903432.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.2049T>C",
          "hgvs_p": "p.Asn683Asn",
          "transcript": "NM_001368046.1",
          "protein_id": "NP_001354975.1",
          "transcript_support_level": null,
          "aa_start": 683,
          "aa_end": null,
          "aa_length": 1005,
          "cds_start": 2049,
          "cds_end": null,
          "cds_length": 3018,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001368046.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.1956T>C",
          "hgvs_p": "p.Asn652Asn",
          "transcript": "NM_001308090.2",
          "protein_id": "NP_001295019.1",
          "transcript_support_level": null,
          "aa_start": 652,
          "aa_end": null,
          "aa_length": 974,
          "cds_start": 1956,
          "cds_end": null,
          "cds_length": 2925,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001308090.2"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.1956T>C",
          "hgvs_p": "p.Asn652Asn",
          "transcript": "ENST00000552960.5",
          "protein_id": "ENSP00000448532.1",
          "transcript_support_level": 2,
          "aa_start": 652,
          "aa_end": null,
          "aa_length": 974,
          "cds_start": 1956,
          "cds_end": null,
          "cds_length": 2925,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000552960.5"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.1935T>C",
          "hgvs_p": "p.Asn645Asn",
          "transcript": "ENST00000903431.1",
          "protein_id": "ENSP00000573490.1",
          "transcript_support_level": null,
          "aa_start": 645,
          "aa_end": null,
          "aa_length": 967,
          "cds_start": 1935,
          "cds_end": null,
          "cds_length": 2904,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903431.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.1935T>C",
          "hgvs_p": "p.Asn645Asn",
          "transcript": "ENST00000903435.1",
          "protein_id": "ENSP00000573494.1",
          "transcript_support_level": null,
          "aa_start": 645,
          "aa_end": null,
          "aa_length": 967,
          "cds_start": 1935,
          "cds_end": null,
          "cds_length": 2904,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903435.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.1923T>C",
          "hgvs_p": "p.Asn641Asn",
          "transcript": "ENST00000903434.1",
          "protein_id": "ENSP00000573493.1",
          "transcript_support_level": null,
          "aa_start": 641,
          "aa_end": null,
          "aa_length": 963,
          "cds_start": 1923,
          "cds_end": null,
          "cds_length": 2892,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903434.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.1896T>C",
          "hgvs_p": "p.Asn632Asn",
          "transcript": "NM_001098416.4",
          "protein_id": "NP_001091886.1",
          "transcript_support_level": null,
          "aa_start": 632,
          "aa_end": null,
          "aa_length": 954,
          "cds_start": 1896,
          "cds_end": null,
          "cds_length": 2865,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001098416.4"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.1890T>C",
          "hgvs_p": "p.Asn630Asn",
          "transcript": "ENST00000427332.6",
          "protein_id": "ENSP00000404394.2",
          "transcript_support_level": 5,
          "aa_start": 630,
          "aa_end": null,
          "aa_length": 952,
          "cds_start": 1890,
          "cds_end": null,
          "cds_length": 2859,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000427332.6"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.1887T>C",
          "hgvs_p": "p.Asn629Asn",
          "transcript": "ENST00000903437.1",
          "protein_id": "ENSP00000573496.1",
          "transcript_support_level": null,
          "aa_start": 629,
          "aa_end": null,
          "aa_length": 951,
          "cds_start": 1887,
          "cds_end": null,
          "cds_length": 2856,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903437.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.1677T>C",
          "hgvs_p": "p.Asn559Asn",
          "transcript": "ENST00000903436.1",
          "protein_id": "ENSP00000573495.1",
          "transcript_support_level": null,
          "aa_start": 559,
          "aa_end": null,
          "aa_length": 881,
          "cds_start": 1677,
          "cds_end": null,
          "cds_length": 2646,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903436.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.1566T>C",
          "hgvs_p": "p.Asn522Asn",
          "transcript": "ENST00000903433.1",
          "protein_id": "ENSP00000573492.1",
          "transcript_support_level": null,
          "aa_start": 522,
          "aa_end": null,
          "aa_length": 844,
          "cds_start": 1566,
          "cds_end": null,
          "cds_length": 2535,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903433.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.327T>C",
          "hgvs_p": "p.Asn109Asn",
          "transcript": "ENST00000548080.5",
          "protein_id": "ENSP00000446538.1",
          "transcript_support_level": 5,
          "aa_start": 109,
          "aa_end": null,
          "aa_length": 383,
          "cds_start": 327,
          "cds_end": null,
          "cds_length": 1152,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000548080.5"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.2139T>C",
          "hgvs_p": "p.Asn713Asn",
          "transcript": "XM_011538481.2",
          "protein_id": "XP_011536783.2",
          "transcript_support_level": null,
          "aa_start": 713,
          "aa_end": null,
          "aa_length": 1035,
          "cds_start": 2139,
          "cds_end": null,
          "cds_length": 3108,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011538481.2"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.2139T>C",
          "hgvs_p": "p.Asn713Asn",
          "transcript": "XM_047428978.1",
          "protein_id": "XP_047284934.1",
          "transcript_support_level": null,
          "aa_start": 713,
          "aa_end": null,
          "aa_length": 1035,
          "cds_start": 2139,
          "cds_end": null,
          "cds_length": 3108,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047428978.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.2028T>C",
          "hgvs_p": "p.Asn676Asn",
          "transcript": "XM_011538480.1",
          "protein_id": "XP_011536782.1",
          "transcript_support_level": null,
          "aa_start": 676,
          "aa_end": null,
          "aa_length": 998,
          "cds_start": 2028,
          "cds_end": null,
          "cds_length": 2997,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011538480.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.2028T>C",
          "hgvs_p": "p.Asn676Asn",
          "transcript": "XM_024449018.2",
          "protein_id": "XP_024304786.1",
          "transcript_support_level": null,
          "aa_start": 676,
          "aa_end": null,
          "aa_length": 998,
          "cds_start": 2028,
          "cds_end": null,
          "cds_length": 2997,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024449018.2"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.2028T>C",
          "hgvs_p": "p.Asn676Asn",
          "transcript": "XM_047428979.1",
          "protein_id": "XP_047284935.1",
          "transcript_support_level": null,
          "aa_start": 676,
          "aa_end": null,
          "aa_length": 998,
          "cds_start": 2028,
          "cds_end": null,
          "cds_length": 2997,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047428979.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.1956T>C",
          "hgvs_p": "p.Asn652Asn",
          "transcript": "XM_047428980.1",
          "protein_id": "XP_047284936.1",
          "transcript_support_level": null,
          "aa_start": 652,
          "aa_end": null,
          "aa_length": 974,
          "cds_start": 1956,
          "cds_end": null,
          "cds_length": 2925,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047428980.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.1917T>C",
          "hgvs_p": "p.Asn639Asn",
          "transcript": "XM_047428981.1",
          "protein_id": "XP_047284937.1",
          "transcript_support_level": null,
          "aa_start": 639,
          "aa_end": null,
          "aa_length": 961,
          "cds_start": 1917,
          "cds_end": null,
          "cds_length": 2886,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047428981.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.1890T>C",
          "hgvs_p": "p.Asn630Asn",
          "transcript": "XM_047428982.1",
          "protein_id": "XP_047284938.1",
          "transcript_support_level": null,
          "aa_start": 630,
          "aa_end": null,
          "aa_length": 952,
          "cds_start": 1890,
          "cds_end": null,
          "cds_length": 2859,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047428982.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.1890T>C",
          "hgvs_p": "p.Asn630Asn",
          "transcript": "XM_047428984.1",
          "protein_id": "XP_047284940.1",
          "transcript_support_level": null,
          "aa_start": 630,
          "aa_end": null,
          "aa_length": 952,
          "cds_start": 1890,
          "cds_end": null,
          "cds_length": 2859,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047428984.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "c.1845T>C",
          "hgvs_p": "p.Asn615Asn",
          "transcript": "XM_047428983.1",
          "protein_id": "XP_047284939.1",
          "transcript_support_level": null,
          "aa_start": 615,
          "aa_end": null,
          "aa_length": 937,
          "cds_start": 1845,
          "cds_end": null,
          "cds_length": 2814,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047428983.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "n.3161T>C",
          "hgvs_p": null,
          "transcript": "ENST00000459625.5",
          "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": "ENST00000459625.5"
        },
        {
          "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": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "n.2182T>C",
          "hgvs_p": null,
          "transcript": "ENST00000470668.5",
          "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": "ENST00000470668.5"
        },
        {
          "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": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "n.*1096T>C",
          "hgvs_p": null,
          "transcript": "ENST00000477203.6",
          "protein_id": "ENSP00000449171.1",
          "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": "ENST00000477203.6"
        },
        {
          "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": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "n.324T>C",
          "hgvs_p": null,
          "transcript": "ENST00000488927.2",
          "protein_id": "ENSP00000482003.1",
          "transcript_support_level": 5,
          "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": "ENST00000488927.2"
        },
        {
          "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": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "n.*450T>C",
          "hgvs_p": null,
          "transcript": "ENST00000548938.5",
          "protein_id": "ENSP00000448305.1",
          "transcript_support_level": 5,
          "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": "ENST00000548938.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "n.2739T>C",
          "hgvs_p": null,
          "transcript": "NR_160435.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "NR_160435.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "n.2790T>C",
          "hgvs_p": null,
          "transcript": "NR_160436.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "NR_160436.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "n.*1096T>C",
          "hgvs_p": null,
          "transcript": "ENST00000477203.6",
          "protein_id": "ENSP00000449171.1",
          "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": "ENST00000477203.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HDAC7",
          "gene_hgnc_id": 14067,
          "hgvs_c": "n.*450T>C",
          "hgvs_p": null,
          "transcript": "ENST00000548938.5",
          "protein_id": "ENSP00000448305.1",
          "transcript_support_level": 5,
          "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": "ENST00000548938.5"
        }
      ],
      "gene_symbol": "HDAC7",
      "gene_hgnc_id": 14067,
      "dbsnp": "rs1344218982",
      "frequency_reference_population": 0.0000037208288,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 6,
      "gnomad_exomes_af": 0.00000342394,
      "gnomad_genomes_af": 0.00000656866,
      "gnomad_exomes_ac": 5,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.17299999296665192,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.173,
      "revel_prediction": "Benign",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.81,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.848,
      "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": -7,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP7,BS2",
      "acmg_by_gene": [
        {
          "score": -7,
          "benign_score": 7,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP7",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_001368046.1",
          "gene_symbol": "HDAC7",
          "hgnc_id": 14067,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.2049T>C",
          "hgvs_p": "p.Asn683Asn"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}