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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: 17-32471507-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=32471507&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 32471507,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_002815.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PSMD11",
          "gene_hgnc_id": 9556,
          "hgvs_c": "c.644-2294A>G",
          "hgvs_p": null,
          "transcript": "NM_002815.4",
          "protein_id": "NP_002806.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1269,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000261712.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002815.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PSMD11",
          "gene_hgnc_id": 9556,
          "hgvs_c": "c.644-2294A>G",
          "hgvs_p": null,
          "transcript": "ENST00000261712.8",
          "protein_id": "ENSP00000261712.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1269,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_002815.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000261712.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "PSMD11",
          "gene_hgnc_id": 9556,
          "hgvs_c": "c.719-2294A>G",
          "hgvs_p": null,
          "transcript": "ENST00000899317.1",
          "protein_id": "ENSP00000569376.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 447,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1344,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000899317.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PSMD11",
          "gene_hgnc_id": 9556,
          "hgvs_c": "c.644-2294A>G",
          "hgvs_p": null,
          "transcript": "NM_001270482.2",
          "protein_id": "NP_001257411.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1269,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001270482.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PSMD11",
          "gene_hgnc_id": 9556,
          "hgvs_c": "c.644-2294A>G",
          "hgvs_p": null,
          "transcript": "ENST00000457654.6",
          "protein_id": "ENSP00000393185.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1269,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000457654.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PSMD11",
          "gene_hgnc_id": 9556,
          "hgvs_c": "c.644-2294A>G",
          "hgvs_p": null,
          "transcript": "ENST00000649012.1",
          "protein_id": "ENSP00000497128.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1269,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000649012.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PSMD11",
          "gene_hgnc_id": 9556,
          "hgvs_c": "c.644-2294A>G",
          "hgvs_p": null,
          "transcript": "ENST00000899312.1",
          "protein_id": "ENSP00000569371.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1269,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000899312.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PSMD11",
          "gene_hgnc_id": 9556,
          "hgvs_c": "c.644-2294A>G",
          "hgvs_p": null,
          "transcript": "ENST00000925957.1",
          "protein_id": "ENSP00000596016.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1269,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000925957.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PSMD11",
          "gene_hgnc_id": 9556,
          "hgvs_c": "c.644-2294A>G",
          "hgvs_p": null,
          "transcript": "ENST00000925961.1",
          "protein_id": "ENSP00000596020.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1269,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000925961.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PSMD11",
          "gene_hgnc_id": 9556,
          "hgvs_c": "c.644-2294A>G",
          "hgvs_p": null,
          "transcript": "ENST00000966388.1",
          "protein_id": "ENSP00000636447.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": null,
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          "cds_length": 1269,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000966388.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 14,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PSMD11",
          "gene_hgnc_id": 9556,
          "hgvs_c": "c.638-2294A>G",
          "hgvs_p": null,
          "transcript": "ENST00000925964.1",
          "protein_id": "ENSP00000596023.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 420,
          "cds_start": null,
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          "cds_length": 1263,
          "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": true,
          "consequences": [
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          "exon_rank": null,
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          "exon_count": 14,
          "intron_rank": 6,
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          "gene_symbol": "PSMD11",
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          "hgvs_c": "c.644-2294A>G",
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          "transcript": "ENST00000899320.1",
          "protein_id": "ENSP00000569379.1",
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "gene_symbol": "PSMD11",
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          "hgvs_c": "c.644-2294A>G",
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          "transcript": "ENST00000966387.1",
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        {
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          "exon_count": 14,
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          "intron_rank_end": null,
          "gene_symbol": "PSMD11",
          "gene_hgnc_id": 9556,
          "hgvs_c": "c.644-2309A>G",
          "hgvs_p": null,
          "transcript": "ENST00000899315.1",
          "protein_id": "ENSP00000569374.1",
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          "cds_start": null,
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        {
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        {
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          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PSMD11",
          "gene_hgnc_id": 9556,
          "hgvs_c": "c.644-2294A>G",
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          "transcript": "ENST00000966391.1",
          "protein_id": "ENSP00000636450.1",
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        {
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          "gene_symbol": "PSMD11",
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          "hgvs_c": "c.644-2294A>G",
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          "transcript": "ENST00000966393.1",
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          "gene_symbol": "PSMD11",
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        {
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        {
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          ],
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          "exon_count": 14,
          "intron_rank": 6,
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          "gene_symbol": "PSMD11",
          "gene_hgnc_id": 9556,
          "hgvs_c": "c.644-2294A>G",
          "hgvs_p": null,
          "transcript": "ENST00000899313.1",
          "protein_id": "ENSP00000569372.1",
          "transcript_support_level": null,
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          "aa_length": 409,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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        },
        {
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          "consequences": [
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          ],
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      "mitotip_prediction": null,
      "acmg_score": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_002815.4",
          "gene_symbol": "PSMD11",
          "hgnc_id": 9556,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.644-2294A>G",
          "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
}