← 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: 19-56473006-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=56473006&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 56473006,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000504904.8",
      "consequences": [
        {
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-548-819A>G",
          "hgvs_p": null,
          "transcript": "NM_001321356.2",
          "protein_id": "NP_001308285.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4401,
          "mane_select": "ENST00000504904.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-548-819A>G",
          "hgvs_p": null,
          "transcript": "ENST00000504904.8",
          "protein_id": "ENSP00000439402.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4401,
          "mane_select": "NM_001321356.2",
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-60+4266A>G",
          "hgvs_p": null,
          "transcript": "ENST00000292069.10",
          "protein_id": "ENSP00000292069.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3832,
          "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": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-1367A>G",
          "hgvs_p": null,
          "transcript": "ENST00000591790.5",
          "protein_id": "ENSP00000468550.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 127,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 384,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5250,
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-60+4266A>G",
          "hgvs_p": null,
          "transcript": "NM_022103.4",
          "protein_id": "NP_071386.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3799,
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-332+4266A>G",
          "hgvs_p": null,
          "transcript": "NM_001321355.2",
          "protein_id": "NP_001308284.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 553,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1662,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3900,
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-60+5027A>G",
          "hgvs_p": null,
          "transcript": "ENST00000587555.5",
          "protein_id": "ENSP00000468466.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 157,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 475,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 567,
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-60+3903A>G",
          "hgvs_p": null,
          "transcript": "ENST00000589946.1",
          "protein_id": "ENSP00000464708.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 83,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 253,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 522,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "n.1891-822A>G",
          "hgvs_p": null,
          "transcript": "ENST00000589652.1",
          "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": 3593,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "n.-60+4266A>G",
          "hgvs_p": null,
          "transcript": "ENST00000592189.5",
          "protein_id": "ENSP00000467627.1",
          "transcript_support_level": 5,
          "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": 3921,
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-545-822A>G",
          "hgvs_p": null,
          "transcript": "XM_011527208.3",
          "protein_id": "XP_011525510.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4398,
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-60+5027A>G",
          "hgvs_p": null,
          "transcript": "XM_024451637.2",
          "protein_id": "XP_024307405.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3786,
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-1026-384A>G",
          "hgvs_p": null,
          "transcript": "XM_024451638.2",
          "protein_id": "XP_024307406.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8026,
          "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": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-665-384A>G",
          "hgvs_p": null,
          "transcript": "XM_024451640.2",
          "protein_id": "XP_024307408.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6468,
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-548-819A>G",
          "hgvs_p": null,
          "transcript": "XM_024451641.2",
          "protein_id": "XP_024307409.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6351,
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-548-819A>G",
          "hgvs_p": null,
          "transcript": "XM_024451642.2",
          "protein_id": "XP_024307410.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4355,
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-548-819A>G",
          "hgvs_p": null,
          "transcript": "XM_024451643.2",
          "protein_id": "XP_024307411.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4288,
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-545-822A>G",
          "hgvs_p": null,
          "transcript": "XM_024451644.2",
          "protein_id": "XP_024307412.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4285,
          "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": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-60+1006A>G",
          "hgvs_p": null,
          "transcript": "XM_024451645.2",
          "protein_id": "XP_024307413.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3912,
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-60+4588A>G",
          "hgvs_p": null,
          "transcript": "XM_024451646.2",
          "protein_id": "XP_024307414.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3959,
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-60+4445A>G",
          "hgvs_p": null,
          "transcript": "XM_024451647.2",
          "protein_id": "XP_024307415.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3808,
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-983-384A>G",
          "hgvs_p": null,
          "transcript": "XM_047439207.1",
          "protein_id": "XP_047295163.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7983,
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-545-822A>G",
          "hgvs_p": null,
          "transcript": "XM_047439208.1",
          "protein_id": "XP_047295164.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6348,
          "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": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-668-384A>G",
          "hgvs_p": null,
          "transcript": "XM_047439209.1",
          "protein_id": "XP_047295165.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6471,
          "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": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-770-384A>G",
          "hgvs_p": null,
          "transcript": "XM_047439210.1",
          "protein_id": "XP_047295166.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6573,
          "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": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-60+1006A>G",
          "hgvs_p": null,
          "transcript": "XM_047439211.1",
          "protein_id": "XP_047295167.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5862,
          "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": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF667",
          "gene_hgnc_id": 28854,
          "hgvs_c": "c.-60+1006A>G",
          "hgvs_p": null,
          "transcript": "XM_047439212.1",
          "protein_id": "XP_047295168.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3858,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "ZNF667",
      "gene_hgnc_id": 28854,
      "dbsnp": "rs1542039",
      "frequency_reference_population": 0.38169104,
      "hom_count_reference_population": 11692,
      "allele_count_reference_population": 58072,
      "gnomad_exomes_af": 0.5,
      "gnomad_genomes_af": 0.381689,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": 58071,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 11692,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.9300000071525574,
      "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": -0.93,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.844,
      "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": "ENST00000504904.8",
          "gene_symbol": "ZNF667",
          "hgnc_id": 28854,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.-548-819A>G",
          "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
}