← 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: 15-64816621-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=64816621&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 64816621,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_001286497.2",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1819G>A",
          "hgvs_p": "p.Val607Met",
          "transcript": "NM_001286496.2",
          "protein_id": "NP_001273425.1",
          "transcript_support_level": null,
          "aa_start": 607,
          "aa_end": null,
          "aa_length": 641,
          "cds_start": 1819,
          "cds_end": null,
          "cds_length": 1926,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000559239.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286496.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1819G>A",
          "hgvs_p": "p.Val607Met",
          "transcript": "ENST00000559239.2",
          "protein_id": "ENSP00000452792.1",
          "transcript_support_level": 1,
          "aa_start": 607,
          "aa_end": null,
          "aa_length": 641,
          "cds_start": 1819,
          "cds_end": null,
          "cds_length": 1926,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001286496.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000559239.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1819G>A",
          "hgvs_p": "p.Val607Met",
          "transcript": "ENST00000333425.10",
          "protein_id": "ENSP00000328174.6",
          "transcript_support_level": 1,
          "aa_start": 607,
          "aa_end": null,
          "aa_length": 707,
          "cds_start": 1819,
          "cds_end": null,
          "cds_length": 2124,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000333425.10"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1819G>A",
          "hgvs_p": "p.Val607Met",
          "transcript": "ENST00000268043.8",
          "protein_id": "ENSP00000268043.4",
          "transcript_support_level": 1,
          "aa_start": 607,
          "aa_end": null,
          "aa_length": 641,
          "cds_start": 1819,
          "cds_end": null,
          "cds_length": 1926,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000268043.8"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1819G>A",
          "hgvs_p": "p.Val607Met",
          "transcript": "NM_001286497.2",
          "protein_id": "NP_001273426.1",
          "transcript_support_level": null,
          "aa_start": 607,
          "aa_end": null,
          "aa_length": 707,
          "cds_start": 1819,
          "cds_end": null,
          "cds_length": 2124,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286497.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1831G>A",
          "hgvs_p": "p.Val611Met",
          "transcript": "ENST00000923751.1",
          "protein_id": "ENSP00000593810.1",
          "transcript_support_level": null,
          "aa_start": 611,
          "aa_end": null,
          "aa_length": 645,
          "cds_start": 1831,
          "cds_end": null,
          "cds_length": 1938,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923751.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1819G>A",
          "hgvs_p": "p.Val607Met",
          "transcript": "NM_025049.4",
          "protein_id": "NP_079325.2",
          "transcript_support_level": null,
          "aa_start": 607,
          "aa_end": null,
          "aa_length": 641,
          "cds_start": 1819,
          "cds_end": null,
          "cds_length": 1926,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_025049.4"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1819G>A",
          "hgvs_p": "p.Val607Met",
          "transcript": "ENST00000880618.1",
          "protein_id": "ENSP00000550677.1",
          "transcript_support_level": null,
          "aa_start": 607,
          "aa_end": null,
          "aa_length": 641,
          "cds_start": 1819,
          "cds_end": null,
          "cds_length": 1926,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000880618.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1819G>A",
          "hgvs_p": "p.Val607Met",
          "transcript": "ENST00000923753.1",
          "protein_id": "ENSP00000593812.1",
          "transcript_support_level": null,
          "aa_start": 607,
          "aa_end": null,
          "aa_length": 641,
          "cds_start": 1819,
          "cds_end": null,
          "cds_length": 1926,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923753.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1819G>A",
          "hgvs_p": "p.Val607Met",
          "transcript": "ENST00000923755.1",
          "protein_id": "ENSP00000593814.1",
          "transcript_support_level": null,
          "aa_start": 607,
          "aa_end": null,
          "aa_length": 641,
          "cds_start": 1819,
          "cds_end": null,
          "cds_length": 1926,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923755.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1813G>A",
          "hgvs_p": "p.Val605Met",
          "transcript": "ENST00000923743.1",
          "protein_id": "ENSP00000593802.1",
          "transcript_support_level": null,
          "aa_start": 605,
          "aa_end": null,
          "aa_length": 639,
          "cds_start": 1813,
          "cds_end": null,
          "cds_length": 1920,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923743.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1813G>A",
          "hgvs_p": "p.Val605Met",
          "transcript": "ENST00000923757.1",
          "protein_id": "ENSP00000593816.1",
          "transcript_support_level": null,
          "aa_start": 605,
          "aa_end": null,
          "aa_length": 639,
          "cds_start": 1813,
          "cds_end": null,
          "cds_length": 1920,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923757.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1807G>A",
          "hgvs_p": "p.Val603Met",
          "transcript": "ENST00000923742.1",
          "protein_id": "ENSP00000593801.1",
          "transcript_support_level": null,
          "aa_start": 603,
          "aa_end": null,
          "aa_length": 637,
          "cds_start": 1807,
          "cds_end": null,
          "cds_length": 1914,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923742.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1807G>A",
          "hgvs_p": "p.Val603Met",
          "transcript": "ENST00000923746.1",
          "protein_id": "ENSP00000593805.1",
          "transcript_support_level": null,
          "aa_start": 603,
          "aa_end": null,
          "aa_length": 637,
          "cds_start": 1807,
          "cds_end": null,
          "cds_length": 1914,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923746.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1792G>A",
          "hgvs_p": "p.Val598Met",
          "transcript": "ENST00000923747.1",
          "protein_id": "ENSP00000593806.1",
          "transcript_support_level": null,
          "aa_start": 598,
          "aa_end": null,
          "aa_length": 632,
          "cds_start": 1792,
          "cds_end": null,
          "cds_length": 1899,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923747.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1792G>A",
          "hgvs_p": "p.Val598Met",
          "transcript": "ENST00000923750.1",
          "protein_id": "ENSP00000593809.1",
          "transcript_support_level": null,
          "aa_start": 598,
          "aa_end": null,
          "aa_length": 632,
          "cds_start": 1792,
          "cds_end": null,
          "cds_length": 1899,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923750.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1765G>A",
          "hgvs_p": "p.Val589Met",
          "transcript": "ENST00000923748.1",
          "protein_id": "ENSP00000593807.1",
          "transcript_support_level": null,
          "aa_start": 589,
          "aa_end": null,
          "aa_length": 623,
          "cds_start": 1765,
          "cds_end": null,
          "cds_length": 1872,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923748.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1765G>A",
          "hgvs_p": "p.Val589Met",
          "transcript": "ENST00000923760.1",
          "protein_id": "ENSP00000593819.1",
          "transcript_support_level": null,
          "aa_start": 589,
          "aa_end": null,
          "aa_length": 623,
          "cds_start": 1765,
          "cds_end": null,
          "cds_length": 1872,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923760.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1705G>A",
          "hgvs_p": "p.Val569Met",
          "transcript": "ENST00000923749.1",
          "protein_id": "ENSP00000593808.1",
          "transcript_support_level": null,
          "aa_start": 569,
          "aa_end": null,
          "aa_length": 603,
          "cds_start": 1705,
          "cds_end": null,
          "cds_length": 1812,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923749.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1696G>A",
          "hgvs_p": "p.Val566Met",
          "transcript": "ENST00000923745.1",
          "protein_id": "ENSP00000593804.1",
          "transcript_support_level": null,
          "aa_start": 566,
          "aa_end": null,
          "aa_length": 600,
          "cds_start": 1696,
          "cds_end": null,
          "cds_length": 1803,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923745.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1693G>A",
          "hgvs_p": "p.Val565Met",
          "transcript": "ENST00000923752.1",
          "protein_id": "ENSP00000593811.1",
          "transcript_support_level": null,
          "aa_start": 565,
          "aa_end": null,
          "aa_length": 599,
          "cds_start": 1693,
          "cds_end": null,
          "cds_length": 1800,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923752.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1660G>A",
          "hgvs_p": "p.Val554Met",
          "transcript": "NM_001286499.2",
          "protein_id": "NP_001273428.1",
          "transcript_support_level": null,
          "aa_start": 554,
          "aa_end": null,
          "aa_length": 588,
          "cds_start": 1660,
          "cds_end": null,
          "cds_length": 1767,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286499.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1639G>A",
          "hgvs_p": "p.Val547Met",
          "transcript": "ENST00000923761.1",
          "protein_id": "ENSP00000593820.1",
          "transcript_support_level": null,
          "aa_start": 547,
          "aa_end": null,
          "aa_length": 581,
          "cds_start": 1639,
          "cds_end": null,
          "cds_length": 1746,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923761.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1624G>A",
          "hgvs_p": "p.Val542Met",
          "transcript": "ENST00000880617.1",
          "protein_id": "ENSP00000550676.1",
          "transcript_support_level": null,
          "aa_start": 542,
          "aa_end": null,
          "aa_length": 576,
          "cds_start": 1624,
          "cds_end": null,
          "cds_length": 1731,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000880617.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1624G>A",
          "hgvs_p": "p.Val542Met",
          "transcript": "ENST00000923756.1",
          "protein_id": "ENSP00000593815.1",
          "transcript_support_level": null,
          "aa_start": 542,
          "aa_end": null,
          "aa_length": 576,
          "cds_start": 1624,
          "cds_end": null,
          "cds_length": 1731,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923756.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1612G>A",
          "hgvs_p": "p.Val538Met",
          "transcript": "ENST00000923759.1",
          "protein_id": "ENSP00000593818.1",
          "transcript_support_level": null,
          "aa_start": 538,
          "aa_end": null,
          "aa_length": 572,
          "cds_start": 1612,
          "cds_end": null,
          "cds_length": 1719,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923759.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1597G>A",
          "hgvs_p": "p.Val533Met",
          "transcript": "ENST00000923744.1",
          "protein_id": "ENSP00000593803.1",
          "transcript_support_level": null,
          "aa_start": 533,
          "aa_end": null,
          "aa_length": 567,
          "cds_start": 1597,
          "cds_end": null,
          "cds_length": 1704,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923744.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1570G>A",
          "hgvs_p": "p.Val524Met",
          "transcript": "ENST00000923758.1",
          "protein_id": "ENSP00000593817.1",
          "transcript_support_level": null,
          "aa_start": 524,
          "aa_end": null,
          "aa_length": 558,
          "cds_start": 1570,
          "cds_end": null,
          "cds_length": 1677,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923758.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1438G>A",
          "hgvs_p": "p.Val480Met",
          "transcript": "ENST00000923754.1",
          "protein_id": "ENSP00000593813.1",
          "transcript_support_level": null,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 1438,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923754.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1819G>A",
          "hgvs_p": "p.Val607Met",
          "transcript": "XM_011522083.3",
          "protein_id": "XP_011520385.1",
          "transcript_support_level": null,
          "aa_start": 607,
          "aa_end": null,
          "aa_length": 641,
          "cds_start": 1819,
          "cds_end": null,
          "cds_length": 1926,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011522083.3"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "c.1819G>A",
          "hgvs_p": "p.Val607Met",
          "transcript": "XM_011522084.3",
          "protein_id": "XP_011520386.1",
          "transcript_support_level": null,
          "aa_start": 607,
          "aa_end": null,
          "aa_length": 641,
          "cds_start": 1819,
          "cds_end": null,
          "cds_length": 1926,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011522084.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIF1",
          "gene_hgnc_id": 26220,
          "hgvs_c": "n.*31G>A",
          "hgvs_p": null,
          "transcript": "ENST00000559872.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": "ENST00000559872.1"
        }
      ],
      "gene_symbol": "PIF1",
      "gene_hgnc_id": 26220,
      "dbsnp": "rs1330285166",
      "frequency_reference_population": 0.000008054543,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 13,
      "gnomad_exomes_af": 0.00000820932,
      "gnomad_genomes_af": 0.00000656849,
      "gnomad_exomes_ac": 12,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.7343751192092896,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.38,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.6995,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.13,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 7.905,
      "phylop100way_prediction": "Pathogenic",
      "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": 2,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2",
      "acmg_by_gene": [
        {
          "score": 2,
          "benign_score": 0,
          "pathogenic_score": 2,
          "criteria": [
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001286497.2",
          "gene_symbol": "PIF1",
          "hgnc_id": 26220,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.1819G>A",
          "hgvs_p": "p.Val607Met"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}