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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: 6-12292467-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=12292467&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 12292467,
      "ref": "T",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001955.5",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.191T>A",
          "hgvs_p": "p.Val64Asp",
          "transcript": "NM_001955.5",
          "protein_id": "NP_001946.3",
          "transcript_support_level": null,
          "aa_start": 64,
          "aa_end": null,
          "aa_length": 212,
          "cds_start": 191,
          "cds_end": null,
          "cds_length": 639,
          "cdna_start": 460,
          "cdna_end": null,
          "cdna_length": 2035,
          "mane_select": "ENST00000379375.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001955.5"
        },
        {
          "aa_ref": "V",
          "aa_alt": "D",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.191T>A",
          "hgvs_p": "p.Val64Asp",
          "transcript": "ENST00000379375.6",
          "protein_id": "ENSP00000368683.5",
          "transcript_support_level": 1,
          "aa_start": 64,
          "aa_end": null,
          "aa_length": 212,
          "cds_start": 191,
          "cds_end": null,
          "cds_length": 639,
          "cdna_start": 460,
          "cdna_end": null,
          "cdna_length": 2035,
          "mane_select": "NM_001955.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000379375.6"
        },
        {
          "aa_ref": "V",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.191T>A",
          "hgvs_p": "p.Val64Asp",
          "transcript": "ENST00000877370.1",
          "protein_id": "ENSP00000547429.1",
          "transcript_support_level": null,
          "aa_start": 64,
          "aa_end": null,
          "aa_length": 220,
          "cds_start": 191,
          "cds_end": null,
          "cds_length": 663,
          "cdna_start": 460,
          "cdna_end": null,
          "cdna_length": 2059,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877370.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.191T>A",
          "hgvs_p": "p.Val64Asp",
          "transcript": "ENST00000971811.1",
          "protein_id": "ENSP00000641870.1",
          "transcript_support_level": null,
          "aa_start": 64,
          "aa_end": null,
          "aa_length": 220,
          "cds_start": 191,
          "cds_end": null,
          "cds_length": 663,
          "cdna_start": 370,
          "cdna_end": null,
          "cdna_length": 1969,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000971811.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.188T>A",
          "hgvs_p": "p.Val63Asp",
          "transcript": "ENST00000877373.1",
          "protein_id": "ENSP00000547432.1",
          "transcript_support_level": null,
          "aa_start": 63,
          "aa_end": null,
          "aa_length": 219,
          "cds_start": 188,
          "cds_end": null,
          "cds_length": 660,
          "cdna_start": 457,
          "cdna_end": null,
          "cdna_length": 1418,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877373.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.191T>A",
          "hgvs_p": "p.Val64Asp",
          "transcript": "NM_001416563.1",
          "protein_id": "NP_001403492.1",
          "transcript_support_level": null,
          "aa_start": 64,
          "aa_end": null,
          "aa_length": 212,
          "cds_start": 191,
          "cds_end": null,
          "cds_length": 639,
          "cdna_start": 302,
          "cdna_end": null,
          "cdna_length": 1877,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001416563.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.191T>A",
          "hgvs_p": "p.Val64Asp",
          "transcript": "NM_001416564.1",
          "protein_id": "NP_001403493.1",
          "transcript_support_level": null,
          "aa_start": 64,
          "aa_end": null,
          "aa_length": 212,
          "cds_start": 191,
          "cds_end": null,
          "cds_length": 639,
          "cdna_start": 248,
          "cdna_end": null,
          "cdna_length": 1823,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001416564.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.191T>A",
          "hgvs_p": "p.Val64Asp",
          "transcript": "NM_001416565.1",
          "protein_id": "NP_001403494.1",
          "transcript_support_level": null,
          "aa_start": 64,
          "aa_end": null,
          "aa_length": 212,
          "cds_start": 191,
          "cds_end": null,
          "cds_length": 639,
          "cdna_start": 586,
          "cdna_end": null,
          "cdna_length": 2161,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001416565.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.191T>A",
          "hgvs_p": "p.Val64Asp",
          "transcript": "ENST00000877364.1",
          "protein_id": "ENSP00000547423.1",
          "transcript_support_level": null,
          "aa_start": 64,
          "aa_end": null,
          "aa_length": 212,
          "cds_start": 191,
          "cds_end": null,
          "cds_length": 639,
          "cdna_start": 376,
          "cdna_end": null,
          "cdna_length": 1949,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877364.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.191T>A",
          "hgvs_p": "p.Val64Asp",
          "transcript": "ENST00000877365.1",
          "protein_id": "ENSP00000547424.1",
          "transcript_support_level": null,
          "aa_start": 64,
          "aa_end": null,
          "aa_length": 212,
          "cds_start": 191,
          "cds_end": null,
          "cds_length": 639,
          "cdna_start": 333,
          "cdna_end": null,
          "cdna_length": 1270,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877365.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.191T>A",
          "hgvs_p": "p.Val64Asp",
          "transcript": "ENST00000877366.1",
          "protein_id": "ENSP00000547425.1",
          "transcript_support_level": null,
          "aa_start": 64,
          "aa_end": null,
          "aa_length": 212,
          "cds_start": 191,
          "cds_end": null,
          "cds_length": 639,
          "cdna_start": 373,
          "cdna_end": null,
          "cdna_length": 1948,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877366.1"
        },
        {
          "aa_ref": "V",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 3,
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          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
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          "hgvs_p": "p.Val64Asp",
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          "protein_id": "ENSP00000547426.1",
          "transcript_support_level": null,
          "aa_start": 64,
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          "cds_start": 191,
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          "cdna_start": 465,
          "cdna_end": null,
          "cdna_length": 1402,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877367.1"
        },
        {
          "aa_ref": "V",
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.191T>A",
          "hgvs_p": "p.Val64Asp",
          "transcript": "ENST00000877368.1",
          "protein_id": "ENSP00000547427.1",
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          "aa_start": 64,
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          "cds_start": 191,
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          "cdna_start": 343,
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          "cdna_length": 1280,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877368.1"
        },
        {
          "aa_ref": "V",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.191T>A",
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          "transcript": "ENST00000877371.1",
          "protein_id": "ENSP00000547430.1",
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          "cds_start": 191,
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          "cdna_start": 302,
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          "cdna_length": 1239,
          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          ],
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          "gene_symbol": "EDN1",
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          "hgvs_p": "p.Val64Asp",
          "transcript": "ENST00000877372.1",
          "protein_id": "ENSP00000547431.1",
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          "cdna_start": 269,
          "cdna_end": null,
          "cdna_length": 1206,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000877372.1"
        },
        {
          "aa_ref": "V",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.191T>A",
          "hgvs_p": "p.Val64Asp",
          "transcript": "ENST00000916855.1",
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          "cds_start": 191,
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          "cdna_start": 273,
          "cdna_end": null,
          "cdna_length": 1846,
          "mane_select": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": "V",
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          "intron_rank": null,
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          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.191T>A",
          "hgvs_p": "p.Val64Asp",
          "transcript": "ENST00000971814.1",
          "protein_id": "ENSP00000641873.1",
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          "mane_select": null,
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        {
          "aa_ref": "V",
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          "intron_rank": null,
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          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.188T>A",
          "hgvs_p": "p.Val63Asp",
          "transcript": "NM_001168319.2",
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          "cds_start": 188,
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          "cdna_start": 457,
          "cdna_end": null,
          "cdna_length": 2032,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001168319.2"
        },
        {
          "aa_ref": "V",
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          "protein_coding": true,
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.188T>A",
          "hgvs_p": "p.Val63Asp",
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          "protein_id": "ENSP00000547428.1",
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          "cds_start": 188,
          "cds_end": null,
          "cds_length": 636,
          "cdna_start": 804,
          "cdna_end": null,
          "cdna_length": 2379,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877369.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.188T>A",
          "hgvs_p": "p.Val63Asp",
          "transcript": "ENST00000971812.1",
          "protein_id": "ENSP00000641871.1",
          "transcript_support_level": null,
          "aa_start": 63,
          "aa_end": null,
          "aa_length": 211,
          "cds_start": 188,
          "cds_end": null,
          "cds_length": 636,
          "cdna_start": 707,
          "cdna_end": null,
          "cdna_length": 1622,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000971812.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
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            "missense_variant"
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "EDN1",
          "gene_hgnc_id": 3176,
          "hgvs_c": "c.188T>A",
          "hgvs_p": "p.Val63Asp",
          "transcript": "ENST00000971813.1",
          "protein_id": "ENSP00000641872.1",
          "transcript_support_level": null,
          "aa_start": 63,
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          "aa_length": 211,
          "cds_start": 188,
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          "cds_length": 636,
          "cdna_start": 259,
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          "cdna_length": 1332,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000971813.1"
        },
        {
          "aa_ref": null,
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          "protein_coding": false,
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          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 4,
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          "gene_symbol": "ENSG00000302734",
          "gene_hgnc_id": null,
          "hgvs_c": "n.70+18714A>T",
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          "transcript": "ENST00000789282.1",
          "protein_id": null,
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          "aa_start": null,
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          "aa_length": null,
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          "cdna_start": null,
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          "cdna_length": 1162,
          "mane_select": null,
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          "biotype": "pseudogene",
          "feature": "ENST00000789282.1"
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
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          "exon_count": 2,
          "intron_rank": 1,
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          "gene_symbol": "ENSG00000302734",
          "gene_hgnc_id": null,
          "hgvs_c": "n.26-1671A>T",
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          "transcript": "ENST00000789283.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1751,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000789283.1"
        }
      ],
      "gene_symbol": "EDN1",
      "gene_hgnc_id": 3176,
      "dbsnp": "rs587777233",
      "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": 0.9627325534820557,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.987,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.9771,
      "alphamissense_prediction": "Pathogenic",
      "bayesdelnoaf_score": 0.43,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 7.739,
      "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": 7,
      "acmg_classification": "Likely_pathogenic",
      "acmg_criteria": "PM2,PP3_Strong,PP5",
      "acmg_by_gene": [
        {
          "score": 7,
          "benign_score": 0,
          "pathogenic_score": 7,
          "criteria": [
            "PM2",
            "PP3_Strong",
            "PP5"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "NM_001955.5",
          "gene_symbol": "EDN1",
          "hgnc_id": 3176,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.191T>A",
          "hgvs_p": "p.Val64Asp"
        },
        {
          "score": 7,
          "benign_score": 0,
          "pathogenic_score": 7,
          "criteria": [
            "PM2",
            "PP3_Strong",
            "PP5"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "ENST00000789282.1",
          "gene_symbol": "ENSG00000302734",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.70+18714A>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": " isolated,Question mark ears",
      "clinvar_classification": "Pathogenic",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "Question mark ears, isolated",
      "pathogenicity_classification_combined": "Pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}
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