← 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: 21-43658154-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=43658154&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "21",
      "pos": 43658154,
      "ref": "C",
      "alt": "T",
      "effect": "5_prime_UTR_premature_start_codon_gain_variant",
      "transcript": "ENST00000291560.7",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "NM_007031.2",
          "protein_id": "NP_008962.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1900,
          "mane_select": "ENST00000291560.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "ENST00000291560.7",
          "protein_id": "ENSP00000291560.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1900,
          "mane_select": "NM_007031.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "NM_007031.2",
          "protein_id": "NP_008962.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1900,
          "mane_select": "ENST00000291560.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "ENST00000291560.7",
          "protein_id": "ENSP00000291560.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1900,
          "mane_select": "NM_007031.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "ENST00000443485.1",
          "protein_id": "ENSP00000409585.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 225,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 680,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 989,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_011529443.3",
          "protein_id": "XP_011527745.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 348,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1047,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1826,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_047440674.1",
          "protein_id": "XP_047296630.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 348,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1047,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2891,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_017028267.2",
          "protein_id": "XP_016883756.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 345,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1038,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1934,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_047440675.1",
          "protein_id": "XP_047296631.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 345,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1038,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2873,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_017028268.2",
          "protein_id": "XP_016883757.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 342,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1029,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3342,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_017028269.2",
          "protein_id": "XP_016883758.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 17167,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_047440676.1",
          "protein_id": "XP_047296632.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2965,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_017028270.2",
          "protein_id": "XP_016883759.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 274,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 825,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1621,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_047440678.1",
          "protein_id": "XP_047296634.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 260,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 783,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1678,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_011529447.3",
          "protein_id": "XP_011527749.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 254,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 765,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1805,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_017028272.2",
          "protein_id": "XP_016883761.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 251,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 756,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1796,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_047440679.1",
          "protein_id": "XP_047296635.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 251,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 756,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2861,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "n.270G>A",
          "hgvs_p": null,
          "transcript": "XR_007067780.1",
          "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": 16818,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "n.270G>A",
          "hgvs_p": null,
          "transcript": "XR_007067781.1",
          "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": 16250,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "n.270G>A",
          "hgvs_p": null,
          "transcript": "XR_007067782.1",
          "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": 13804,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "ENST00000443485.1",
          "protein_id": "ENSP00000409585.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 225,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 680,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 989,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_011529443.3",
          "protein_id": "XP_011527745.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 348,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1047,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1826,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_047440674.1",
          "protein_id": "XP_047296630.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 348,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1047,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2891,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_017028267.2",
          "protein_id": "XP_016883756.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 345,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1038,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1934,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_047440675.1",
          "protein_id": "XP_047296631.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 345,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1038,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2873,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_017028268.2",
          "protein_id": "XP_016883757.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 342,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1029,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3342,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_017028269.2",
          "protein_id": "XP_016883758.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 17167,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_047440676.1",
          "protein_id": "XP_047296632.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2965,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_017028270.2",
          "protein_id": "XP_016883759.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 274,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 825,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1621,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_047440678.1",
          "protein_id": "XP_047296634.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 260,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 783,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1678,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_011529447.3",
          "protein_id": "XP_011527749.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 254,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 765,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1805,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_017028272.2",
          "protein_id": "XP_016883761.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 251,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 756,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1796,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null,
          "transcript": "XM_047440679.1",
          "protein_id": "XP_047296635.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 251,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 756,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2861,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSF2BP",
          "gene_hgnc_id": 5226,
          "hgvs_c": "c.-132G>A",
          "hgvs_p": null,
          "transcript": "XM_047440677.1",
          "protein_id": "XP_047296633.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1404,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "HSF2BP",
      "gene_hgnc_id": 5226,
      "dbsnp": "rs2838343",
      "frequency_reference_population": 0.5766249,
      "hom_count_reference_population": 247111,
      "allele_count_reference_population": 847529,
      "gnomad_exomes_af": 0.575752,
      "gnomad_genomes_af": 0.58418,
      "gnomad_exomes_ac": 758625,
      "gnomad_genomes_ac": 88904,
      "gnomad_exomes_homalt": 220721,
      "gnomad_genomes_homalt": 26390,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8100000023841858,
      "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": -0.81,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.126,
      "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": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000291560.7",
          "gene_symbol": "HSF2BP",
          "hgnc_id": 5226,
          "effects": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.-58G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}