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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: 2-188595826-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=188595826&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 188595826,
      "ref": "T",
      "alt": "A",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_001375948.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1815T>A",
          "hgvs_p": null,
          "transcript": "NM_016315.4",
          "protein_id": "NP_057399.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 304,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 915,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000409830.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_016315.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1815T>A",
          "hgvs_p": null,
          "transcript": "ENST00000409830.6",
          "protein_id": "ENSP00000386732.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 304,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 915,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_016315.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409830.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1815T>A",
          "hgvs_p": null,
          "transcript": "ENST00000359135.7",
          "protein_id": "ENSP00000352047.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 304,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 915,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000359135.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1815T>A",
          "hgvs_p": null,
          "transcript": "NM_001375948.1",
          "protein_id": "NP_001362877.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 379,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1140,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375948.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1815T>A",
          "hgvs_p": null,
          "transcript": "NM_001375949.1",
          "protein_id": "NP_001362878.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 379,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1140,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375949.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1815T>A",
          "hgvs_p": null,
          "transcript": "ENST00000908914.1",
          "protein_id": "ENSP00000578973.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 379,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1140,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000908914.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1815T>A",
          "hgvs_p": null,
          "transcript": "ENST00000919994.1",
          "protein_id": "ENSP00000590053.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 379,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1140,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000919994.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1815T>A",
          "hgvs_p": null,
          "transcript": "ENST00000919995.1",
          "protein_id": "ENSP00000590054.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 379,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1140,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000919995.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1815T>A",
          "hgvs_p": null,
          "transcript": "ENST00000920002.1",
          "protein_id": "ENSP00000590061.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 379,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1140,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000920002.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1815T>A",
          "hgvs_p": null,
          "transcript": "ENST00000963747.1",
          "protein_id": "ENSP00000633806.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 379,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1140,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963747.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1815T>A",
          "hgvs_p": null,
          "transcript": "ENST00000963756.1",
          "protein_id": "ENSP00000633815.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 379,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1140,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963756.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1815T>A",
          "hgvs_p": null,
          "transcript": "ENST00000963758.1",
          "protein_id": "ENSP00000633817.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 379,
          "cds_start": null,
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          "cds_length": 1140,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963758.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1865T>A",
          "hgvs_p": null,
          "transcript": "NM_001375940.1",
          "protein_id": "NP_001362869.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 374,
          "cds_start": null,
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          "cds_length": 1125,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375940.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1865T>A",
          "hgvs_p": null,
          "transcript": "NM_001375941.1",
          "protein_id": "NP_001362870.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 374,
          "cds_start": null,
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          "cds_length": 1125,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375941.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
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          ],
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          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1865T>A",
          "hgvs_p": null,
          "transcript": "NM_001375942.1",
          "protein_id": "NP_001362871.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 374,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375942.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1865T>A",
          "hgvs_p": null,
          "transcript": "NM_001375943.1",
          "protein_id": "NP_001362872.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 374,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001375943.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1865T>A",
          "hgvs_p": null,
          "transcript": "NM_001375932.1",
          "protein_id": "NP_001362861.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 366,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1101,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001375932.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1865T>A",
          "hgvs_p": null,
          "transcript": "NM_001375933.1",
          "protein_id": "NP_001362862.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cds_length": 1101,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001375933.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1865T>A",
          "hgvs_p": null,
          "transcript": "NM_001375934.1",
          "protein_id": "NP_001362863.1",
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          "cds_start": null,
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          "cds_length": 1101,
          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "NM_001375934.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GULP1",
          "gene_hgnc_id": 18649,
          "hgvs_c": "c.*1865T>A",
          "hgvs_p": null,
          "transcript": "NM_001375935.1",
          "protein_id": "NP_001362864.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 366,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1101,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375935.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
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        {
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          "transcript": "XM_047444711.1",
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          "biotype": "protein_coding",
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        {
          "aa_ref": null,
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          "consequences": [
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          "gene_symbol": "GULP1",
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          "biotype": "pseudogene",
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        {
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          "protein_coding": false,
          "strand": true,
          "consequences": [
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          "exon_count": 12,
          "intron_rank": null,
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          "gene_symbol": "GULP1",
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          "hgvs_c": "n.3182T>A",
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          "transcript": "NR_164745.1",
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          "cdna_start": null,
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          "biotype": "pseudogene",
          "feature": "NR_164745.1"
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      ],
      "gene_symbol": "GULP1",
      "gene_hgnc_id": 18649,
      "dbsnp": "rs8273",
      "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": -0.30000001192092896,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.3,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.274,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001375948.1",
          "gene_symbol": "GULP1",
          "hgnc_id": 18649,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.*1815T>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}