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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: 10-129837935-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=129837935&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 129837935,
      "ref": "T",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_001375379.1",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "c.1650A>T",
          "hgvs_p": "p.Pro550Pro",
          "transcript": "ENST00000368648.8",
          "protein_id": "ENSP00000357637.3",
          "transcript_support_level": 1,
          "aa_start": 550,
          "aa_end": null,
          "aa_length": 551,
          "cds_start": 1650,
          "cds_end": null,
          "cds_length": 1656,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000368648.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "c.*8A>T",
          "hgvs_p": null,
          "transcript": "NM_001375380.1",
          "protein_id": "NP_001362309.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 629,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1890,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000440978.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375380.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "c.*8A>T",
          "hgvs_p": null,
          "transcript": "ENST00000440978.2",
          "protein_id": "ENSP00000387543.2",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 629,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1890,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001375380.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000440978.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "c.1785A>T",
          "hgvs_p": "p.Pro595Pro",
          "transcript": "NM_001375379.1",
          "protein_id": "NP_001362308.1",
          "transcript_support_level": null,
          "aa_start": 595,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": 1785,
          "cds_end": null,
          "cds_length": 1791,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375379.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "c.1785A>T",
          "hgvs_p": "p.Pro595Pro",
          "transcript": "ENST00000355311.10",
          "protein_id": "ENSP00000347463.4",
          "transcript_support_level": 5,
          "aa_start": 595,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": 1785,
          "cds_end": null,
          "cds_length": 1791,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000355311.10"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "c.1677A>T",
          "hgvs_p": "p.Pro559Pro",
          "transcript": "NM_001375391.1",
          "protein_id": "NP_001362320.1",
          "transcript_support_level": null,
          "aa_start": 559,
          "aa_end": null,
          "aa_length": 560,
          "cds_start": 1677,
          "cds_end": null,
          "cds_length": 1683,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375391.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "c.1650A>T",
          "hgvs_p": "p.Pro550Pro",
          "transcript": "NM_001005463.3",
          "protein_id": "NP_001005463.1",
          "transcript_support_level": null,
          "aa_start": 550,
          "aa_end": null,
          "aa_length": 551,
          "cds_start": 1650,
          "cds_end": null,
          "cds_length": 1656,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001005463.3"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "c.1569A>T",
          "hgvs_p": "p.Pro523Pro",
          "transcript": "NM_001375392.1",
          "protein_id": "NP_001362321.1",
          "transcript_support_level": null,
          "aa_start": 523,
          "aa_end": null,
          "aa_length": 524,
          "cds_start": 1569,
          "cds_end": null,
          "cds_length": 1575,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375392.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "c.1758A>T",
          "hgvs_p": "p.Pro586Pro",
          "transcript": "XM_005252669.3",
          "protein_id": "XP_005252726.1",
          "transcript_support_level": null,
          "aa_start": 586,
          "aa_end": null,
          "aa_length": 587,
          "cds_start": 1758,
          "cds_end": null,
          "cds_length": 1764,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005252669.3"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "c.1488A>T",
          "hgvs_p": "p.Pro496Pro",
          "transcript": "XM_017016027.1",
          "protein_id": "XP_016871516.1",
          "transcript_support_level": null,
          "aa_start": 496,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 1488,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_017016027.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "c.1461A>T",
          "hgvs_p": "p.Pro487Pro",
          "transcript": "XM_047424961.1",
          "protein_id": "XP_047280917.1",
          "transcript_support_level": null,
          "aa_start": 487,
          "aa_end": null,
          "aa_length": 488,
          "cds_start": 1461,
          "cds_end": null,
          "cds_length": 1467,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "c.*8A>T",
          "hgvs_p": null,
          "transcript": "ENST00000904893.1",
          "protein_id": "ENSP00000574952.1",
          "transcript_support_level": null,
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          "aa_length": 620,
          "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",
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        },
        {
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          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "c.*8A>T",
          "hgvs_p": null,
          "transcript": "NM_001375389.1",
          "protein_id": "NP_001362318.1",
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          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "c.*8A>T",
          "hgvs_p": null,
          "transcript": "NM_001375390.1",
          "protein_id": "NP_001362319.1",
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          "cds_start": null,
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        {
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          ],
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          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "EBF3",
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          "hgvs_c": "c.*8A>T",
          "hgvs_p": null,
          "transcript": "ENST00000962323.1",
          "protein_id": "ENSP00000632382.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "c.*8A>T",
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          "transcript": "XM_006717740.3",
          "protein_id": "XP_006717803.1",
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          "cds_start": null,
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        {
          "aa_ref": null,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "c.*8A>T",
          "hgvs_p": null,
          "transcript": "XM_005252667.3",
          "protein_id": "XP_005252724.1",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "c.*8A>T",
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          "protein_id": "XP_011537876.1",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "EBF3",
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          "hgvs_c": "c.*8A>T",
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          "transcript": "XM_006717744.3",
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "c.*8A>T",
          "hgvs_p": null,
          "transcript": "XM_011539575.3",
          "protein_id": "XP_011537877.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 457,
          "cds_start": null,
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          "cds_length": 1374,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_011539575.3"
        },
        {
          "aa_ref": null,
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          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EBF3",
          "gene_hgnc_id": 19087,
          "hgvs_c": "n.1540A>T",
          "hgvs_p": null,
          "transcript": "ENST00000675373.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000675373.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000300012",
          "gene_hgnc_id": null,
          "hgvs_c": "n.148-512T>A",
          "hgvs_p": null,
          "transcript": "ENST00000767946.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000767946.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 1,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000275327",
          "gene_hgnc_id": null,
          "hgvs_c": "n.*141T>A",
          "hgvs_p": null,
          "transcript": "ENST00000617939.1",
          "protein_id": null,
          "transcript_support_level": 6,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000617939.1"
        }
      ],
      "gene_symbol": "EBF3",
      "gene_hgnc_id": 19087,
      "dbsnp": "rs1590019771",
      "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": -0.8700000047683716,
      "computational_prediction_selected": "Benign",
      "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": -0.87,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.616,
      "phylop100way_prediction": "Benign",
      "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": -5,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -5,
          "benign_score": 7,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001375379.1",
          "gene_symbol": "EBF3",
          "hgnc_id": 19087,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1785A>T",
          "hgvs_p": "p.Pro595Pro"
        },
        {
          "score": -4,
          "benign_score": 6,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Moderate"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000767946.1",
          "gene_symbol": "ENSG00000300012",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.148-512T>A",
          "hgvs_p": null
        },
        {
          "score": -4,
          "benign_score": 6,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Moderate"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000617939.1",
          "gene_symbol": "ENSG00000275327",
          "hgnc_id": null,
          "effects": [
            "downstream_gene_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.*141T>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "not provided",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}