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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: 1-178473216-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=178473216&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 178473216,
      "ref": "G",
      "alt": "T",
      "effect": "stop_gained",
      "transcript": "ENST00000367649.8",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.3820G>T",
          "hgvs_p": "p.Glu1274*",
          "transcript": "NM_170692.4",
          "protein_id": "NP_733793.2",
          "transcript_support_level": null,
          "aa_start": 1274,
          "aa_end": null,
          "aa_length": 1280,
          "cds_start": 3820,
          "cds_end": null,
          "cds_length": 3843,
          "cdna_start": 4209,
          "cdna_end": null,
          "cdna_length": 9843,
          "mane_select": "ENST00000367649.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.3820G>T",
          "hgvs_p": "p.Glu1274*",
          "transcript": "ENST00000367649.8",
          "protein_id": "ENSP00000356621.3",
          "transcript_support_level": 1,
          "aa_start": 1274,
          "aa_end": null,
          "aa_length": 1280,
          "cds_start": 3820,
          "cds_end": null,
          "cds_length": 3843,
          "cdna_start": 4209,
          "cdna_end": null,
          "cdna_length": 9843,
          "mane_select": "NM_170692.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.3397G>T",
          "hgvs_p": "p.Glu1133*",
          "transcript": "ENST00000462775.5",
          "protein_id": "ENSP00000420558.1",
          "transcript_support_level": 1,
          "aa_start": 1133,
          "aa_end": null,
          "aa_length": 1139,
          "cds_start": 3397,
          "cds_end": null,
          "cds_length": 3420,
          "cdna_start": 3522,
          "cdna_end": null,
          "cdna_length": 14453,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.4228G>T",
          "hgvs_p": "p.Glu1410*",
          "transcript": "ENST00000696605.1",
          "protein_id": "ENSP00000512749.1",
          "transcript_support_level": null,
          "aa_start": 1410,
          "aa_end": null,
          "aa_length": 1416,
          "cds_start": 4228,
          "cds_end": null,
          "cds_length": 4251,
          "cdna_start": 7210,
          "cdna_end": null,
          "cdna_length": 12873,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.3841G>T",
          "hgvs_p": "p.Glu1281*",
          "transcript": "NM_001437626.1",
          "protein_id": "NP_001424555.1",
          "transcript_support_level": null,
          "aa_start": 1281,
          "aa_end": null,
          "aa_length": 1287,
          "cds_start": 3841,
          "cds_end": null,
          "cds_length": 3864,
          "cdna_start": 4230,
          "cdna_end": null,
          "cdna_length": 9864,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.3397G>T",
          "hgvs_p": "p.Glu1133*",
          "transcript": "NM_004841.5",
          "protein_id": "NP_004832.1",
          "transcript_support_level": null,
          "aa_start": 1133,
          "aa_end": null,
          "aa_length": 1139,
          "cds_start": 3397,
          "cds_end": null,
          "cds_length": 3420,
          "cdna_start": 3542,
          "cdna_end": null,
          "cdna_length": 9176,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.3376G>T",
          "hgvs_p": "p.Glu1126*",
          "transcript": "NM_001438677.1",
          "protein_id": "NP_001425606.1",
          "transcript_support_level": null,
          "aa_start": 1126,
          "aa_end": null,
          "aa_length": 1132,
          "cds_start": 3376,
          "cds_end": null,
          "cds_length": 3399,
          "cdna_start": 3521,
          "cdna_end": null,
          "cdna_length": 9155,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.4228G>T",
          "hgvs_p": "p.Glu1410*",
          "transcript": "XM_017002850.2",
          "protein_id": "XP_016858339.1",
          "transcript_support_level": null,
          "aa_start": 1410,
          "aa_end": null,
          "aa_length": 1416,
          "cds_start": 4228,
          "cds_end": null,
          "cds_length": 4251,
          "cdna_start": 8958,
          "cdna_end": null,
          "cdna_length": 14592,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.4207G>T",
          "hgvs_p": "p.Glu1403*",
          "transcript": "XM_017002852.2",
          "protein_id": "XP_016858341.1",
          "transcript_support_level": null,
          "aa_start": 1403,
          "aa_end": null,
          "aa_length": 1409,
          "cds_start": 4207,
          "cds_end": null,
          "cds_length": 4230,
          "cdna_start": 8936,
          "cdna_end": null,
          "cdna_length": 14570,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.3571G>T",
          "hgvs_p": "p.Glu1191*",
          "transcript": "XM_047434838.1",
          "protein_id": "XP_047290794.1",
          "transcript_support_level": null,
          "aa_start": 1191,
          "aa_end": null,
          "aa_length": 1197,
          "cds_start": 3571,
          "cds_end": null,
          "cds_length": 3594,
          "cdna_start": 3662,
          "cdna_end": null,
          "cdna_length": 9296,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.3490G>T",
          "hgvs_p": "p.Glu1164*",
          "transcript": "XM_047434839.1",
          "protein_id": "XP_047290795.1",
          "transcript_support_level": null,
          "aa_start": 1164,
          "aa_end": null,
          "aa_length": 1170,
          "cds_start": 3490,
          "cds_end": null,
          "cds_length": 3513,
          "cdna_start": 4335,
          "cdna_end": null,
          "cdna_length": 9969,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.3406G>T",
          "hgvs_p": "p.Glu1136*",
          "transcript": "XM_047434849.1",
          "protein_id": "XP_047290805.1",
          "transcript_support_level": null,
          "aa_start": 1136,
          "aa_end": null,
          "aa_length": 1142,
          "cds_start": 3406,
          "cds_end": null,
          "cds_length": 3429,
          "cdna_start": 19401,
          "cdna_end": null,
          "cdna_length": 25035,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.3385G>T",
          "hgvs_p": "p.Glu1129*",
          "transcript": "XM_047434857.1",
          "protein_id": "XP_047290813.1",
          "transcript_support_level": null,
          "aa_start": 1129,
          "aa_end": null,
          "aa_length": 1135,
          "cds_start": 3385,
          "cds_end": null,
          "cds_length": 3408,
          "cdna_start": 19380,
          "cdna_end": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "*",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_lost"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.3872G>T",
          "hgvs_p": "p.Ter1291Leuext*?",
          "transcript": "NM_001437625.1",
          "protein_id": "NP_001424554.1",
          "transcript_support_level": null,
          "aa_start": 1291,
          "aa_end": null,
          "aa_length": 1290,
          "cds_start": 3872,
          "cds_end": null,
          "cds_length": 3873,
          "cdna_start": 4261,
          "cdna_end": null,
          "cdna_length": 9895,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "*",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_lost"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.3851G>T",
          "hgvs_p": "p.Ter1284Leuext*?",
          "transcript": "NM_001437627.1",
          "protein_id": "NP_001424556.1",
          "transcript_support_level": null,
          "aa_start": 1284,
          "aa_end": null,
          "aa_length": 1283,
          "cds_start": 3851,
          "cds_end": null,
          "cds_length": 3852,
          "cdna_start": 4240,
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          "cdna_length": 9874,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "*",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_lost"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.3416G>T",
          "hgvs_p": "p.Ter1139Leuext*?",
          "transcript": "ENST00000696607.1",
          "protein_id": "ENSP00000512751.1",
          "transcript_support_level": null,
          "aa_start": 1139,
          "aa_end": null,
          "aa_length": 1138,
          "cds_start": 3416,
          "cds_end": null,
          "cds_length": 3417,
          "cdna_start": 3692,
          "cdna_end": null,
          "cdna_length": 10254,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "*",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_lost"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.3407G>T",
          "hgvs_p": "p.Ter1136Leuext*?",
          "transcript": "NM_001438676.1",
          "protein_id": "NP_001425605.1",
          "transcript_support_level": null,
          "aa_start": 1136,
          "aa_end": null,
          "aa_length": 1135,
          "cds_start": 3407,
          "cds_end": null,
          "cds_length": 3408,
          "cdna_start": 3552,
          "cdna_end": null,
          "cdna_length": 9186,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "*",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_lost"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.2078G>T",
          "hgvs_p": "p.Ter693Leuext*?",
          "transcript": "ENST00000433130.2",
          "protein_id": "ENSP00000402897.2",
          "transcript_support_level": 2,
          "aa_start": 693,
          "aa_end": null,
          "aa_length": 692,
          "cds_start": 2078,
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          "cds_length": 2079,
          "cdna_start": 2079,
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          "cdna_length": 2385,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "*",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_lost"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.4259G>T",
          "hgvs_p": "p.Ter1420Leuext*?",
          "transcript": "XM_017002849.2",
          "protein_id": "XP_016858338.1",
          "transcript_support_level": null,
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          "aa_length": 1419,
          "cds_start": 4259,
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          "cds_length": 4260,
          "cdna_start": 8990,
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          "cdna_length": 14624,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "*",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_lost"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.4238G>T",
          "hgvs_p": "p.Ter1413Leuext*?",
          "transcript": "XM_017002851.2",
          "protein_id": "XP_016858340.1",
          "transcript_support_level": null,
          "aa_start": 1413,
          "aa_end": null,
          "aa_length": 1412,
          "cds_start": 4238,
          "cds_end": null,
          "cds_length": 4239,
          "cdna_start": 8968,
          "cdna_end": null,
          "cdna_length": 14602,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "*",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_lost"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
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          "intron_rank": null,
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          "hgvs_p": "p.Ter1235Leuext*?",
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        },
        {
          "aa_ref": "*",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "hgvs_p": "p.Ter1146Leuext*?",
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          "cdna_start": 19432,
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        },
        {
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          "protein_coding": true,
          "strand": true,
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          ],
          "exon_rank": 17,
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          "intron_rank": null,
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          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.3428G>T",
          "hgvs_p": "p.Ter1143Leuext*?",
          "transcript": "XM_005245622.5",
          "protein_id": "XP_005245679.1",
          "transcript_support_level": null,
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          "cds_start": 3428,
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          "cdna_start": 3573,
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          "feature": null
        },
        {
          "aa_ref": "*",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_lost"
          ],
          "exon_rank": 17,
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          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "RASAL2",
          "gene_hgnc_id": 9874,
          "hgvs_c": "c.3416G>T",
          "hgvs_p": "p.Ter1139Leuext*?",
          "transcript": "XM_017002855.2",
          "protein_id": "XP_016858344.1",
          "transcript_support_level": null,
          "aa_start": 1139,
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          "aa_length": 1138,
          "cds_start": 3416,
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          "cdna_start": 19411,
          "cdna_end": null,
          "cdna_length": 25045,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "RASAL2",
      "gene_hgnc_id": 9874,
      "dbsnp": "rs193921085",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.6600000262260437,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.66,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 9.864,
      "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": "ENST00000367649.8",
          "gene_symbol": "RASAL2",
          "hgnc_id": 9874,
          "effects": [
            "stop_gained"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.3820G>T",
          "hgvs_p": "p.Glu1274*"
        }
      ],
      "clinvar_disease": "Prostate cancer",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "Prostate cancer",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}