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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: 9-89378809-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=89378809&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 89378809,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_006378.4",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "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": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "NM_001371194.2",
          "protein_id": "NP_001358123.1",
          "transcript_support_level": null,
          "aa_start": 828,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 2484,
          "cds_end": null,
          "cds_length": 2589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000422704.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001371194.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "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": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "ENST00000422704.7",
          "protein_id": "ENSP00000388768.2",
          "transcript_support_level": 1,
          "aa_start": 828,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 2484,
          "cds_end": null,
          "cds_length": 2589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001371194.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000422704.7"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "ENST00000438547.6",
          "protein_id": "ENSP00000405102.2",
          "transcript_support_level": 1,
          "aa_start": 828,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 2484,
          "cds_end": null,
          "cds_length": 2589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000438547.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "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": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "ENST00000450295.5",
          "protein_id": "ENSP00000416523.1",
          "transcript_support_level": 1,
          "aa_start": 828,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 2484,
          "cds_end": null,
          "cds_length": 2589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000450295.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "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": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "NM_001371195.1",
          "protein_id": "NP_001358124.1",
          "transcript_support_level": null,
          "aa_start": 828,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 2484,
          "cds_end": null,
          "cds_length": 2589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001371195.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "NM_001371196.1",
          "protein_id": "NP_001358125.1",
          "transcript_support_level": null,
          "aa_start": 828,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 2484,
          "cds_end": null,
          "cds_length": 2589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001371196.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "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": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "NM_001371197.1",
          "protein_id": "NP_001358126.1",
          "transcript_support_level": null,
          "aa_start": 828,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 2484,
          "cds_end": null,
          "cds_length": 2589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001371197.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "NM_006378.4",
          "protein_id": "NP_006369.3",
          "transcript_support_level": null,
          "aa_start": 828,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 2484,
          "cds_end": null,
          "cds_length": 2589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006378.4"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "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": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "ENST00000356444.6",
          "protein_id": "ENSP00000348822.2",
          "transcript_support_level": 5,
          "aa_start": 828,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 2484,
          "cds_end": null,
          "cds_length": 2589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000356444.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "ENST00000858567.1",
          "protein_id": "ENSP00000528626.1",
          "transcript_support_level": null,
          "aa_start": 828,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 2484,
          "cds_end": null,
          "cds_length": 2589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858567.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "ENST00000858568.1",
          "protein_id": "ENSP00000528627.1",
          "transcript_support_level": null,
          "aa_start": 828,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 2484,
          "cds_end": null,
          "cds_length": 2589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858568.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "ENST00000858569.1",
          "protein_id": "ENSP00000528628.1",
          "transcript_support_level": null,
          "aa_start": 828,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 2484,
          "cds_end": null,
          "cds_length": 2589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858569.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "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": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "ENST00000858570.1",
          "protein_id": "ENSP00000528629.1",
          "transcript_support_level": null,
          "aa_start": 828,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 2484,
          "cds_end": null,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858570.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "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": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "ENST00000858571.1",
          "protein_id": "ENSP00000528630.1",
          "transcript_support_level": null,
          "aa_start": 828,
          "aa_end": null,
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          "cds_start": 2484,
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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": "ENST00000858571.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "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": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "ENST00000858572.1",
          "protein_id": "ENSP00000528631.1",
          "transcript_support_level": null,
          "aa_start": 828,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 2484,
          "cds_end": null,
          "cds_length": 2589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858572.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "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": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "ENST00000858573.1",
          "protein_id": "ENSP00000528632.1",
          "transcript_support_level": null,
          "aa_start": 828,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 2484,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858573.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "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": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "ENST00000858574.1",
          "protein_id": "ENSP00000528633.1",
          "transcript_support_level": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000858574.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "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": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "ENST00000858575.1",
          "protein_id": "ENSP00000528634.1",
          "transcript_support_level": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000858575.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "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": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "ENST00000858576.1",
          "protein_id": "ENSP00000528635.1",
          "transcript_support_level": null,
          "aa_start": 828,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 2484,
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          "cds_length": 2589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858576.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr",
          "transcript": "ENST00000858577.1",
          "protein_id": "ENSP00000528636.1",
          "transcript_support_level": null,
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          "feature": "NR_163886.1"
        },
        {
          "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": 16,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "n.2122+7558G>A",
          "hgvs_p": null,
          "transcript": "NR_163887.1",
          "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": "NR_163887.1"
        },
        {
          "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": 18,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "n.2212+7558G>A",
          "hgvs_p": null,
          "transcript": "NR_163888.1",
          "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": "NR_163888.1"
        },
        {
          "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": 17,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "SEMA4D",
          "gene_hgnc_id": 10732,
          "hgvs_c": "n.2075-1758G>A",
          "hgvs_p": null,
          "transcript": "NR_163889.1",
          "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": "NR_163889.1"
        }
      ],
      "gene_symbol": "SEMA4D",
      "gene_hgnc_id": 10732,
      "dbsnp": "rs45483393",
      "frequency_reference_population": 0.036679655,
      "hom_count_reference_population": 1631,
      "allele_count_reference_population": 59205,
      "gnomad_exomes_af": 0.0362367,
      "gnomad_genomes_af": 0.0409327,
      "gnomad_exomes_ac": 52973,
      "gnomad_genomes_ac": 6232,
      "gnomad_exomes_homalt": 1452,
      "gnomad_genomes_homalt": 179,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.699999988079071,
      "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": -0.7,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -3.509,
      "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": -14,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6,BP7,BA1",
      "acmg_by_gene": [
        {
          "score": -14,
          "benign_score": 14,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6",
            "BP7",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_006378.4",
          "gene_symbol": "SEMA4D",
          "hgnc_id": 10732,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.2484G>A",
          "hgvs_p": "p.Thr828Thr"
        }
      ],
      "clinvar_disease": "SEMA4D-related disorder",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "SEMA4D-related disorder",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}