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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: 3-55683837-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=55683837&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 55683837,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_015576.3",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2870C>T",
          "hgvs_p": "p.Ala957Val",
          "transcript": "NM_015576.3",
          "protein_id": "NP_056391.1",
          "transcript_support_level": null,
          "aa_start": 957,
          "aa_end": null,
          "aa_length": 957,
          "cds_start": 2870,
          "cds_end": null,
          "cds_length": 2874,
          "cdna_start": 3230,
          "cdna_end": null,
          "cdna_length": 6239,
          "mane_select": "ENST00000288221.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2870C>T",
          "hgvs_p": "p.Ala957Val",
          "transcript": "ENST00000288221.11",
          "protein_id": "ENSP00000288221.6",
          "transcript_support_level": 1,
          "aa_start": 957,
          "aa_end": null,
          "aa_length": 957,
          "cds_start": 2870,
          "cds_end": null,
          "cds_length": 2874,
          "cdna_start": 3230,
          "cdna_end": null,
          "cdna_length": 6239,
          "mane_select": "NM_015576.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "n.2870C>T",
          "hgvs_p": null,
          "transcript": "ENST00000460849.5",
          "protein_id": "ENSP00000417445.1",
          "transcript_support_level": 1,
          "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": 3831,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2894C>T",
          "hgvs_p": "p.Ala965Val",
          "transcript": "ENST00000492584.3",
          "protein_id": "ENSP00000417280.3",
          "transcript_support_level": 5,
          "aa_start": 965,
          "aa_end": null,
          "aa_length": 965,
          "cds_start": 2894,
          "cds_end": null,
          "cds_length": 2898,
          "cdna_start": 3219,
          "cdna_end": null,
          "cdna_length": 6210,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2894C>T",
          "hgvs_p": "p.Ala965Val",
          "transcript": "XM_047447949.1",
          "protein_id": "XP_047303905.1",
          "transcript_support_level": null,
          "aa_start": 965,
          "aa_end": null,
          "aa_length": 965,
          "cds_start": 2894,
          "cds_end": null,
          "cds_length": 2898,
          "cdna_start": 3254,
          "cdna_end": null,
          "cdna_length": 6263,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2858C>T",
          "hgvs_p": "p.Ala953Val",
          "transcript": "XM_047447951.1",
          "protein_id": "XP_047303907.1",
          "transcript_support_level": null,
          "aa_start": 953,
          "aa_end": null,
          "aa_length": 953,
          "cds_start": 2858,
          "cds_end": null,
          "cds_length": 2862,
          "cdna_start": 3218,
          "cdna_end": null,
          "cdna_length": 5033,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2858C>T",
          "hgvs_p": "p.Ala953Val",
          "transcript": "XM_047447952.1",
          "protein_id": "XP_047303908.1",
          "transcript_support_level": null,
          "aa_start": 953,
          "aa_end": null,
          "aa_length": 953,
          "cds_start": 2858,
          "cds_end": null,
          "cds_length": 2862,
          "cdna_start": 3218,
          "cdna_end": null,
          "cdna_length": 6227,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "n.164C>T",
          "hgvs_p": null,
          "transcript": "ENST00000468118.1",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": 580,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "n.3230C>T",
          "hgvs_p": null,
          "transcript": "NR_132749.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6426,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "n.395+15541C>T",
          "hgvs_p": null,
          "transcript": "ENST00000487287.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 532,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2949+15541C>T",
          "hgvs_p": null,
          "transcript": "XM_047447941.1",
          "protein_id": "XP_047303897.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1001,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3006,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6372,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2904+15541C>T",
          "hgvs_p": null,
          "transcript": "XM_017006141.2",
          "protein_id": "XP_016861630.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 986,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2961,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6417,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2898+15541C>T",
          "hgvs_p": null,
          "transcript": "XM_047447942.1",
          "protein_id": "XP_047303898.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 984,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2955,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6411,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2892+15541C>T",
          "hgvs_p": null,
          "transcript": "XM_047447943.1",
          "protein_id": "XP_047303899.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 982,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2949,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6405,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2883+15541C>T",
          "hgvs_p": null,
          "transcript": "XM_017006142.2",
          "protein_id": "XP_016861631.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 979,
          "cds_start": -4,
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          "cds_length": 2940,
          "cdna_start": null,
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          "cdna_length": 6396,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2877+15541C>T",
          "hgvs_p": null,
          "transcript": "XM_047447944.1",
          "protein_id": "XP_047303900.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 977,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2934,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6390,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2877+15541C>T",
          "hgvs_p": null,
          "transcript": "XM_047447945.1",
          "protein_id": "XP_047303901.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 977,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2934,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6419,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2871+15541C>T",
          "hgvs_p": null,
          "transcript": "XM_047447946.1",
          "protein_id": "XP_047303902.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 975,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 6413,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2871+15541C>T",
          "hgvs_p": null,
          "transcript": "XM_047447947.1",
          "protein_id": "XP_047303903.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 975,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 6384,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2868+15541C>T",
          "hgvs_p": null,
          "transcript": "XM_017006146.2",
          "protein_id": "XP_016861635.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 974,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2925,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6381,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2856+15541C>T",
          "hgvs_p": null,
          "transcript": "XM_017006148.2",
          "protein_id": "XP_016861637.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 970,
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          "cds_length": 2913,
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          "cdna_length": 6369,
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        },
        {
          "aa_ref": null,
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          "protein_coding": true,
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          "exon_count": 17,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
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          "hgvs_c": "c.2856+15541C>T",
          "hgvs_p": null,
          "transcript": "XM_047447948.1",
          "protein_id": "XP_047303904.1",
          "transcript_support_level": null,
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        },
        {
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 18,
          "intron_rank": 16,
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          "gene_symbol": "ERC2",
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          "hgvs_c": "c.2847+15541C>T",
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          "transcript": "XM_017006151.2",
          "protein_id": "XP_016861640.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cds_length": 2904,
          "cdna_start": null,
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          "cdna_length": 6360,
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        },
        {
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          "protein_coding": true,
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          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 17,
          "intron_rank": 15,
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          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2835+15541C>T",
          "hgvs_p": null,
          "transcript": "XM_017006156.2",
          "protein_id": "XP_016861645.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 963,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2892,
          "cdna_start": null,
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          "cdna_length": 6348,
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          "feature": null
        },
        {
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          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 17,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.2835+15541C>T",
          "hgvs_p": null,
          "transcript": "XM_047447950.1",
          "protein_id": "XP_047303906.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 963,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2892,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6377,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "ERC2",
      "gene_hgnc_id": 31922,
      "dbsnp": "rs1195923699",
      "frequency_reference_population": 0.000019168865,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 28,
      "gnomad_exomes_af": 0.0000191689,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 28,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.2926146984100342,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.07000000029802322,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.339,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.9914,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.13,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 6.764,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.07,
      "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": -5,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4,BS2",
      "acmg_by_gene": [
        {
          "score": -5,
          "benign_score": 5,
          "pathogenic_score": 0,
          "criteria": [
            "BP4",
            "BS2"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_015576.3",
          "gene_symbol": "ERC2",
          "hgnc_id": 31922,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.2870C>T",
          "hgvs_p": "p.Ala957Val"
        }
      ],
      "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
}