← 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: 10-114441043-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=114441043&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 114441043,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000533213.7",
      "consequences": [
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2033A>G",
          "hgvs_p": "p.Tyr678Cys",
          "transcript": "NM_002313.7",
          "protein_id": "NP_002304.3",
          "transcript_support_level": null,
          "aa_start": 678,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": 2033,
          "cds_end": null,
          "cds_length": 2337,
          "cdna_start": 2108,
          "cdna_end": null,
          "cdna_length": 7560,
          "mane_select": "ENST00000533213.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2033A>G",
          "hgvs_p": "p.Tyr678Cys",
          "transcript": "ENST00000533213.7",
          "protein_id": "ENSP00000433629.3",
          "transcript_support_level": 5,
          "aa_start": 678,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": 2033,
          "cds_end": null,
          "cds_length": 2337,
          "cdna_start": 2108,
          "cdna_end": null,
          "cdna_length": 7560,
          "mane_select": "NM_002313.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2201A>G",
          "hgvs_p": "p.Tyr734Cys",
          "transcript": "ENST00000649363.1",
          "protein_id": "ENSP00000497150.1",
          "transcript_support_level": null,
          "aa_start": 734,
          "aa_end": null,
          "aa_length": 834,
          "cds_start": 2201,
          "cds_end": null,
          "cds_length": 2505,
          "cdna_start": 2284,
          "cdna_end": null,
          "cdna_length": 2670,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1943A>G",
          "hgvs_p": "p.Tyr648Cys",
          "transcript": "NM_001322882.2",
          "protein_id": "NP_001309811.1",
          "transcript_support_level": null,
          "aa_start": 648,
          "aa_end": null,
          "aa_length": 748,
          "cds_start": 1943,
          "cds_end": null,
          "cds_length": 2247,
          "cdna_start": 2593,
          "cdna_end": null,
          "cdna_length": 8047,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1943A>G",
          "hgvs_p": "p.Tyr648Cys",
          "transcript": "ENST00000369256.6",
          "protein_id": "ENSP00000358260.3",
          "transcript_support_level": 5,
          "aa_start": 648,
          "aa_end": null,
          "aa_length": 748,
          "cds_start": 1943,
          "cds_end": null,
          "cds_length": 2247,
          "cdna_start": 2593,
          "cdna_end": null,
          "cdna_length": 3203,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1853A>G",
          "hgvs_p": "p.Tyr618Cys",
          "transcript": "NM_001003407.2",
          "protein_id": "NP_001003407.1",
          "transcript_support_level": null,
          "aa_start": 618,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": 1853,
          "cds_end": null,
          "cds_length": 2157,
          "cdna_start": 1943,
          "cdna_end": null,
          "cdna_length": 7395,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1853A>G",
          "hgvs_p": "p.Tyr618Cys",
          "transcript": "ENST00000392955.8",
          "protein_id": "ENSP00000376682.4",
          "transcript_support_level": 5,
          "aa_start": 618,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": 1853,
          "cds_end": null,
          "cds_length": 2157,
          "cdna_start": 1957,
          "cdna_end": null,
          "cdna_length": 7411,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1748A>G",
          "hgvs_p": "p.Tyr583Cys",
          "transcript": "NM_001322883.2",
          "protein_id": "NP_001309812.1",
          "transcript_support_level": null,
          "aa_start": 583,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": 1748,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": 1838,
          "cdna_end": null,
          "cdna_length": 7290,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1703A>G",
          "hgvs_p": "p.Tyr568Cys",
          "transcript": "NM_001322884.3",
          "protein_id": "NP_001309813.1",
          "transcript_support_level": null,
          "aa_start": 568,
          "aa_end": null,
          "aa_length": 668,
          "cds_start": 1703,
          "cds_end": null,
          "cds_length": 2007,
          "cdna_start": 1934,
          "cdna_end": null,
          "cdna_length": 7386,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1697A>G",
          "hgvs_p": "p.Tyr566Cys",
          "transcript": "NM_001322885.3",
          "protein_id": "NP_001309814.1",
          "transcript_support_level": null,
          "aa_start": 566,
          "aa_end": null,
          "aa_length": 666,
          "cds_start": 1697,
          "cds_end": null,
          "cds_length": 2001,
          "cdna_start": 1928,
          "cdna_end": null,
          "cdna_length": 7380,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1664A>G",
          "hgvs_p": "p.Tyr555Cys",
          "transcript": "NM_001352440.1",
          "protein_id": "NP_001339369.1",
          "transcript_support_level": null,
          "aa_start": 555,
          "aa_end": null,
          "aa_length": 655,
          "cds_start": 1664,
          "cds_end": null,
          "cds_length": 1968,
          "cdna_start": 2144,
          "cdna_end": null,
          "cdna_length": 7598,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1664A>G",
          "hgvs_p": "p.Tyr555Cys",
          "transcript": "ENST00000651023.2",
          "protein_id": "ENSP00000499023.2",
          "transcript_support_level": null,
          "aa_start": 555,
          "aa_end": null,
          "aa_length": 655,
          "cds_start": 1664,
          "cds_end": null,
          "cds_length": 1968,
          "cdna_start": 1839,
          "cdna_end": null,
          "cdna_length": 2944,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1661A>G",
          "hgvs_p": "p.Tyr554Cys",
          "transcript": "NM_001322886.3",
          "protein_id": "NP_001309815.1",
          "transcript_support_level": null,
          "aa_start": 554,
          "aa_end": null,
          "aa_length": 654,
          "cds_start": 1661,
          "cds_end": null,
          "cds_length": 1965,
          "cdna_start": 1892,
          "cdna_end": null,
          "cdna_length": 7344,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1607A>G",
          "hgvs_p": "p.Tyr536Cys",
          "transcript": "NM_001322887.2",
          "protein_id": "NP_001309816.1",
          "transcript_support_level": null,
          "aa_start": 536,
          "aa_end": null,
          "aa_length": 636,
          "cds_start": 1607,
          "cds_end": null,
          "cds_length": 1911,
          "cdna_start": 1697,
          "cdna_end": null,
          "cdna_length": 7149,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1559A>G",
          "hgvs_p": "p.Tyr520Cys",
          "transcript": "NM_001352441.1",
          "protein_id": "NP_001339370.1",
          "transcript_support_level": null,
          "aa_start": 520,
          "aa_end": null,
          "aa_length": 620,
          "cds_start": 1559,
          "cds_end": null,
          "cds_length": 1863,
          "cdna_start": 2039,
          "cdna_end": null,
          "cdna_length": 7493,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1559A>G",
          "hgvs_p": "p.Tyr520Cys",
          "transcript": "ENST00000707119.1",
          "protein_id": "ENSP00000516747.1",
          "transcript_support_level": null,
          "aa_start": 520,
          "aa_end": null,
          "aa_length": 620,
          "cds_start": 1559,
          "cds_end": null,
          "cds_length": 1863,
          "cdna_start": 1686,
          "cdna_end": null,
          "cdna_length": 7125,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1472A>G",
          "hgvs_p": "p.Tyr491Cys",
          "transcript": "NM_001352442.2",
          "protein_id": "NP_001339371.1",
          "transcript_support_level": null,
          "aa_start": 491,
          "aa_end": null,
          "aa_length": 591,
          "cds_start": 1472,
          "cds_end": null,
          "cds_length": 1776,
          "cdna_start": 1764,
          "cdna_end": null,
          "cdna_length": 7216,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1091A>G",
          "hgvs_p": "p.Tyr364Cys",
          "transcript": "NM_001352443.2",
          "protein_id": "NP_001339372.1",
          "transcript_support_level": null,
          "aa_start": 364,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": 1091,
          "cds_end": null,
          "cds_length": 1395,
          "cdna_start": 1399,
          "cdna_end": null,
          "cdna_length": 6851,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1064A>G",
          "hgvs_p": "p.Tyr355Cys",
          "transcript": "NM_001322888.2",
          "protein_id": "NP_001309817.1",
          "transcript_support_level": null,
          "aa_start": 355,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": 1064,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": 1372,
          "cdna_end": null,
          "cdna_length": 6824,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1064A>G",
          "hgvs_p": "p.Tyr355Cys",
          "transcript": "NM_006720.4",
          "protein_id": "NP_006711.3",
          "transcript_support_level": null,
          "aa_start": 355,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": 1064,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": 1372,
          "cdna_end": null,
          "cdna_length": 6824,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1064A>G",
          "hgvs_p": "p.Tyr355Cys",
          "transcript": "ENST00000392952.7",
          "protein_id": "ENSP00000376679.3",
          "transcript_support_level": 5,
          "aa_start": 355,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": 1064,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": 1390,
          "cdna_end": null,
          "cdna_length": 6841,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1028A>G",
          "hgvs_p": "p.Tyr343Cys",
          "transcript": "NM_001322889.2",
          "protein_id": "NP_001309818.1",
          "transcript_support_level": null,
          "aa_start": 343,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": 1028,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": 1357,
          "cdna_end": null,
          "cdna_length": 6809,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.986A>G",
          "hgvs_p": "p.Tyr329Cys",
          "transcript": "NM_001322890.2",
          "protein_id": "NP_001309819.1",
          "transcript_support_level": null,
          "aa_start": 329,
          "aa_end": null,
          "aa_length": 429,
          "cds_start": 986,
          "cds_end": null,
          "cds_length": 1290,
          "cdna_start": 1294,
          "cdna_end": null,
          "cdna_length": 6746,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.986A>G",
          "hgvs_p": "p.Tyr329Cys",
          "transcript": "NM_001322891.2",
          "protein_id": "NP_001309820.1",
          "transcript_support_level": null,
          "aa_start": 329,
          "aa_end": null,
          "aa_length": 429,
          "cds_start": 986,
          "cds_end": null,
          "cds_length": 1290,
          "cdna_start": 1315,
          "cdna_end": null,
          "cdna_length": 6767,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.980A>G",
          "hgvs_p": "p.Tyr327Cys",
          "transcript": "NM_001322892.2",
          "protein_id": "NP_001309821.1",
          "transcript_support_level": null,
          "aa_start": 327,
          "aa_end": null,
          "aa_length": 427,
          "cds_start": 980,
          "cds_end": null,
          "cds_length": 1284,
          "cdna_start": 1288,
          "cdna_end": null,
          "cdna_length": 6740,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.980A>G",
          "hgvs_p": "p.Tyr327Cys",
          "transcript": "NM_001322893.2",
          "protein_id": "NP_001309822.1",
          "transcript_support_level": null,
          "aa_start": 327,
          "aa_end": null,
          "aa_length": 427,
          "cds_start": 980,
          "cds_end": null,
          "cds_length": 1284,
          "cdna_start": 1309,
          "cdna_end": null,
          "cdna_length": 6761,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.944A>G",
          "hgvs_p": "p.Tyr315Cys",
          "transcript": "NM_001322894.2",
          "protein_id": "NP_001309823.1",
          "transcript_support_level": null,
          "aa_start": 315,
          "aa_end": null,
          "aa_length": 415,
          "cds_start": 944,
          "cds_end": null,
          "cds_length": 1248,
          "cdna_start": 1273,
          "cdna_end": null,
          "cdna_length": 6725,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.944A>G",
          "hgvs_p": "p.Tyr315Cys",
          "transcript": "NM_001322895.2",
          "protein_id": "NP_001309824.1",
          "transcript_support_level": null,
          "aa_start": 315,
          "aa_end": null,
          "aa_length": 415,
          "cds_start": 944,
          "cds_end": null,
          "cds_length": 1248,
          "cdna_start": 1252,
          "cdna_end": null,
          "cdna_length": 6704,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.902A>G",
          "hgvs_p": "p.Tyr301Cys",
          "transcript": "NM_001322896.2",
          "protein_id": "NP_001309825.1",
          "transcript_support_level": null,
          "aa_start": 301,
          "aa_end": null,
          "aa_length": 401,
          "cds_start": 902,
          "cds_end": null,
          "cds_length": 1206,
          "cdna_start": 1210,
          "cdna_end": null,
          "cdna_length": 6662,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.902A>G",
          "hgvs_p": "p.Tyr301Cys",
          "transcript": "ENST00000369253.6",
          "protein_id": "ENSP00000358257.2",
          "transcript_support_level": 5,
          "aa_start": 301,
          "aa_end": null,
          "aa_length": 401,
          "cds_start": 902,
          "cds_end": null,
          "cds_length": 1206,
          "cdna_start": 1132,
          "cdna_end": null,
          "cdna_length": 2255,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.866A>G",
          "hgvs_p": "p.Tyr289Cys",
          "transcript": "NM_001322897.2",
          "protein_id": "NP_001309826.1",
          "transcript_support_level": null,
          "aa_start": 289,
          "aa_end": null,
          "aa_length": 389,
          "cds_start": 866,
          "cds_end": null,
          "cds_length": 1170,
          "cdna_start": 1174,
          "cdna_end": null,
          "cdna_length": 6626,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.839A>G",
          "hgvs_p": "p.Tyr280Cys",
          "transcript": "NM_001322898.2",
          "protein_id": "NP_001309827.1",
          "transcript_support_level": null,
          "aa_start": 280,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 839,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": 1147,
          "cdna_end": null,
          "cdna_length": 6599,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.839A>G",
          "hgvs_p": "p.Tyr280Cys",
          "transcript": "NM_001322899.2",
          "protein_id": "NP_001309828.1",
          "transcript_support_level": null,
          "aa_start": 280,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 839,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": 1168,
          "cdna_end": null,
          "cdna_length": 6620,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.761A>G",
          "hgvs_p": "p.Tyr254Cys",
          "transcript": "NM_001322900.2",
          "protein_id": "NP_001309829.1",
          "transcript_support_level": null,
          "aa_start": 254,
          "aa_end": null,
          "aa_length": 354,
          "cds_start": 761,
          "cds_end": null,
          "cds_length": 1065,
          "cdna_start": 1069,
          "cdna_end": null,
          "cdna_length": 6521,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2198A>G",
          "hgvs_p": "p.Tyr733Cys",
          "transcript": "XM_024448010.2",
          "protein_id": "XP_024303778.2",
          "transcript_support_level": null,
          "aa_start": 733,
          "aa_end": null,
          "aa_length": 833,
          "cds_start": 2198,
          "cds_end": null,
          "cds_length": 2502,
          "cdna_start": 2265,
          "cdna_end": null,
          "cdna_length": 7719,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2084A>G",
          "hgvs_p": "p.Tyr695Cys",
          "transcript": "XM_047425229.1",
          "protein_id": "XP_047281185.1",
          "transcript_support_level": null,
          "aa_start": 695,
          "aa_end": null,
          "aa_length": 795,
          "cds_start": 2084,
          "cds_end": null,
          "cds_length": 2388,
          "cdna_start": 2151,
          "cdna_end": null,
          "cdna_length": 7605,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2078A>G",
          "hgvs_p": "p.Tyr693Cys",
          "transcript": "XM_024448011.2",
          "protein_id": "XP_024303779.2",
          "transcript_support_level": null,
          "aa_start": 693,
          "aa_end": null,
          "aa_length": 793,
          "cds_start": 2078,
          "cds_end": null,
          "cds_length": 2382,
          "cdna_start": 2145,
          "cdna_end": null,
          "cdna_length": 7599,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2063A>G",
          "hgvs_p": "p.Tyr688Cys",
          "transcript": "XM_006717837.3",
          "protein_id": "XP_006717900.1",
          "transcript_support_level": null,
          "aa_start": 688,
          "aa_end": null,
          "aa_length": 788,
          "cds_start": 2063,
          "cds_end": null,
          "cds_length": 2367,
          "cdna_start": 2713,
          "cdna_end": null,
          "cdna_length": 8167,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2033A>G",
          "hgvs_p": "p.Tyr678Cys",
          "transcript": "XM_011539802.3",
          "protein_id": "XP_011538104.2",
          "transcript_support_level": null,
          "aa_start": 678,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": 2033,
          "cds_end": null,
          "cds_length": 2337,
          "cdna_start": 2153,
          "cdna_end": null,
          "cdna_length": 7607,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2015A>G",
          "hgvs_p": "p.Tyr672Cys",
          "transcript": "XM_024448014.2",
          "protein_id": "XP_024303782.1",
          "transcript_support_level": null,
          "aa_start": 672,
          "aa_end": null,
          "aa_length": 772,
          "cds_start": 2015,
          "cds_end": null,
          "cds_length": 2319,
          "cdna_start": 2495,
          "cdna_end": null,
          "cdna_length": 7949,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2012A>G",
          "hgvs_p": "p.Tyr671Cys",
          "transcript": "XM_017016245.2",
          "protein_id": "XP_016871734.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 771,
          "cds_start": 2012,
          "cds_end": null,
          "cds_length": 2316,
          "cdna_start": 2243,
          "cdna_end": null,
          "cdna_length": 7697,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.2000A>G",
          "hgvs_p": "p.Tyr667Cys",
          "transcript": "XM_047425231.1",
          "protein_id": "XP_047281187.1",
          "transcript_support_level": null,
          "aa_start": 667,
          "aa_end": null,
          "aa_length": 767,
          "cds_start": 2000,
          "cds_end": null,
          "cds_length": 2304,
          "cdna_start": 2067,
          "cdna_end": null,
          "cdna_length": 7521,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1994A>G",
          "hgvs_p": "p.Tyr665Cys",
          "transcript": "XM_047425232.1",
          "protein_id": "XP_047281188.1",
          "transcript_support_level": null,
          "aa_start": 665,
          "aa_end": null,
          "aa_length": 765,
          "cds_start": 1994,
          "cds_end": null,
          "cds_length": 2298,
          "cdna_start": 2061,
          "cdna_end": null,
          "cdna_length": 7515,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1979A>G",
          "hgvs_p": "p.Tyr660Cys",
          "transcript": "XM_047425233.1",
          "protein_id": "XP_047281189.1",
          "transcript_support_level": null,
          "aa_start": 660,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": 1979,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": 2629,
          "cdna_end": null,
          "cdna_length": 8083,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1979A>G",
          "hgvs_p": "p.Tyr660Cys",
          "transcript": "XM_047425234.1",
          "protein_id": "XP_047281190.1",
          "transcript_support_level": null,
          "aa_start": 660,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": 1979,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": 2046,
          "cdna_end": null,
          "cdna_length": 7500,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1973A>G",
          "hgvs_p": "p.Tyr658Cys",
          "transcript": "XM_017016247.2",
          "protein_id": "XP_016871736.2",
          "transcript_support_level": null,
          "aa_start": 658,
          "aa_end": null,
          "aa_length": 758,
          "cds_start": 1973,
          "cds_end": null,
          "cds_length": 2277,
          "cdna_start": 2040,
          "cdna_end": null,
          "cdna_length": 7494,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1937A>G",
          "hgvs_p": "p.Tyr646Cys",
          "transcript": "XM_047425236.1",
          "protein_id": "XP_047281192.1",
          "transcript_support_level": null,
          "aa_start": 646,
          "aa_end": null,
          "aa_length": 746,
          "cds_start": 1937,
          "cds_end": null,
          "cds_length": 2241,
          "cdna_start": 2004,
          "cdna_end": null,
          "cdna_length": 7458,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1931A>G",
          "hgvs_p": "p.Tyr644Cys",
          "transcript": "XM_024448016.2",
          "protein_id": "XP_024303784.1",
          "transcript_support_level": null,
          "aa_start": 644,
          "aa_end": null,
          "aa_length": 744,
          "cds_start": 1931,
          "cds_end": null,
          "cds_length": 2235,
          "cdna_start": 2411,
          "cdna_end": null,
          "cdna_length": 7865,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1928A>G",
          "hgvs_p": "p.Tyr643Cys",
          "transcript": "XM_017016250.2",
          "protein_id": "XP_016871739.1",
          "transcript_support_level": null,
          "aa_start": 643,
          "aa_end": null,
          "aa_length": 743,
          "cds_start": 1928,
          "cds_end": null,
          "cds_length": 2232,
          "cdna_start": 2159,
          "cdna_end": null,
          "cdna_length": 7613,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1895A>G",
          "hgvs_p": "p.Tyr632Cys",
          "transcript": "XM_047425237.1",
          "protein_id": "XP_047281193.1",
          "transcript_support_level": null,
          "aa_start": 632,
          "aa_end": null,
          "aa_length": 732,
          "cds_start": 1895,
          "cds_end": null,
          "cds_length": 2199,
          "cdna_start": 1962,
          "cdna_end": null,
          "cdna_length": 7416,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1889A>G",
          "hgvs_p": "p.Tyr630Cys",
          "transcript": "XM_047425238.1",
          "protein_id": "XP_047281194.1",
          "transcript_support_level": null,
          "aa_start": 630,
          "aa_end": null,
          "aa_length": 730,
          "cds_start": 1889,
          "cds_end": null,
          "cds_length": 2193,
          "cdna_start": 1956,
          "cdna_end": null,
          "cdna_length": 7410,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1853A>G",
          "hgvs_p": "p.Tyr618Cys",
          "transcript": "XM_047425239.1",
          "protein_id": "XP_047281195.1",
          "transcript_support_level": null,
          "aa_start": 618,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": 1853,
          "cds_end": null,
          "cds_length": 2157,
          "cdna_start": 1920,
          "cdna_end": null,
          "cdna_length": 7374,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1832A>G",
          "hgvs_p": "p.Tyr611Cys",
          "transcript": "XM_047425240.1",
          "protein_id": "XP_047281196.1",
          "transcript_support_level": null,
          "aa_start": 611,
          "aa_end": null,
          "aa_length": 711,
          "cds_start": 1832,
          "cds_end": null,
          "cds_length": 2136,
          "cdna_start": 1899,
          "cdna_end": null,
          "cdna_length": 7353,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1808A>G",
          "hgvs_p": "p.Tyr603Cys",
          "transcript": "XM_017016255.2",
          "protein_id": "XP_016871744.1",
          "transcript_support_level": null,
          "aa_start": 603,
          "aa_end": null,
          "aa_length": 703,
          "cds_start": 1808,
          "cds_end": null,
          "cds_length": 2112,
          "cdna_start": 2039,
          "cdna_end": null,
          "cdna_length": 7493,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1790A>G",
          "hgvs_p": "p.Tyr597Cys",
          "transcript": "XM_024448018.2",
          "protein_id": "XP_024303786.1",
          "transcript_support_level": null,
          "aa_start": 597,
          "aa_end": null,
          "aa_length": 697,
          "cds_start": 1790,
          "cds_end": null,
          "cds_length": 2094,
          "cdna_start": 2270,
          "cdna_end": null,
          "cdna_length": 7724,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1787A>G",
          "hgvs_p": "p.Tyr596Cys",
          "transcript": "XM_011539801.3",
          "protein_id": "XP_011538103.2",
          "transcript_support_level": null,
          "aa_start": 596,
          "aa_end": null,
          "aa_length": 696,
          "cds_start": 1787,
          "cds_end": null,
          "cds_length": 2091,
          "cdna_start": 2079,
          "cdna_end": null,
          "cdna_length": 7533,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1754A>G",
          "hgvs_p": "p.Tyr585Cys",
          "transcript": "XM_047425243.1",
          "protein_id": "XP_047281199.1",
          "transcript_support_level": null,
          "aa_start": 585,
          "aa_end": null,
          "aa_length": 685,
          "cds_start": 1754,
          "cds_end": null,
          "cds_length": 2058,
          "cdna_start": 2404,
          "cdna_end": null,
          "cdna_length": 7858,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1748A>G",
          "hgvs_p": "p.Tyr583Cys",
          "transcript": "XM_047425242.1",
          "protein_id": "XP_047281198.1",
          "transcript_support_level": null,
          "aa_start": 583,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": 1748,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": 1815,
          "cdna_end": null,
          "cdna_length": 7269,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1706A>G",
          "hgvs_p": "p.Tyr569Cys",
          "transcript": "XM_017016256.2",
          "protein_id": "XP_016871745.1",
          "transcript_support_level": null,
          "aa_start": 569,
          "aa_end": null,
          "aa_length": 669,
          "cds_start": 1706,
          "cds_end": null,
          "cds_length": 2010,
          "cdna_start": 2186,
          "cdna_end": null,
          "cdna_length": 7640,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1703A>G",
          "hgvs_p": "p.Tyr568Cys",
          "transcript": "XM_024448013.2",
          "protein_id": "XP_024303781.1",
          "transcript_support_level": null,
          "aa_start": 568,
          "aa_end": null,
          "aa_length": 668,
          "cds_start": 1703,
          "cds_end": null,
          "cds_length": 2007,
          "cdna_start": 1995,
          "cdna_end": null,
          "cdna_length": 7449,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1295A>G",
          "hgvs_p": "p.Tyr432Cys",
          "transcript": "XM_006717846.4",
          "protein_id": "XP_006717909.1",
          "transcript_support_level": null,
          "aa_start": 432,
          "aa_end": null,
          "aa_length": 532,
          "cds_start": 1295,
          "cds_end": null,
          "cds_length": 1599,
          "cdna_start": 1624,
          "cdna_end": null,
          "cdna_length": 7078,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "n.-2A>G",
          "hgvs_p": null,
          "transcript": "ENST00000485570.1",
          "protein_id": null,
          "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": 498,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "ABLIM1",
      "gene_hgnc_id": 78,
      "dbsnp": "rs935379889",
      "frequency_reference_population": 0.0000050299977,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 8,
      "gnomad_exomes_af": 0.00000417157,
      "gnomad_genomes_af": 0.0000131447,
      "gnomad_exomes_ac": 6,
      "gnomad_genomes_ac": 2,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.3794165849685669,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.019999999552965164,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.189,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1762,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.01,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 5.241,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.02,
      "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": 1,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4",
      "acmg_by_gene": [
        {
          "score": 1,
          "benign_score": 1,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000533213.7",
          "gene_symbol": "ABLIM1",
          "hgnc_id": 78,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2033A>G",
          "hgvs_p": "p.Tyr678Cys"
        }
      ],
      "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
}