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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: 9-23769756-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=23769756&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 23769756,
      "ref": "A",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001351455.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ELAVL2",
          "gene_hgnc_id": 3313,
          "hgvs_c": "c.-15-7507T>G",
          "hgvs_p": null,
          "transcript": "NM_004432.5",
          "protein_id": "NP_004423.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000397312.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004432.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ELAVL2",
          "gene_hgnc_id": 3313,
          "hgvs_c": "c.-15-7507T>G",
          "hgvs_p": null,
          "transcript": "ENST00000397312.7",
          "protein_id": "ENSP00000380479.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004432.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000397312.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ELAVL2",
          "gene_hgnc_id": 3313,
          "hgvs_c": "c.-12-7510T>G",
          "hgvs_p": null,
          "transcript": "ENST00000380117.5",
          "protein_id": "ENSP00000369460.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000380117.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ELAVL2",
          "gene_hgnc_id": 3313,
          "hgvs_c": "c.-15-7507T>G",
          "hgvs_p": null,
          "transcript": "ENST00000223951.10",
          "protein_id": "ENSP00000223951.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 346,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1041,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000223951.10"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ELAVL2",
          "gene_hgnc_id": 3313,
          "hgvs_c": "c.-19-4657T>G",
          "hgvs_p": null,
          "transcript": "NM_001351455.2",
          "protein_id": "NP_001338384.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 389,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1170,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001351455.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ELAVL2",
          "gene_hgnc_id": 3313,
          "hgvs_c": "c.-19-4657T>G",
          "hgvs_p": null,
          "transcript": "NM_001385697.1",
          "protein_id": "NP_001372626.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 389,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1170,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001385697.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ELAVL2",
          "gene_hgnc_id": 3313,
          "hgvs_c": "c.-19-4657T>G",
          "hgvs_p": null,
          "transcript": "NM_001385698.1",
          "protein_id": "NP_001372627.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 389,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1170,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001385698.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ELAVL2",
          "gene_hgnc_id": 3313,
          "hgvs_c": "c.-19-4657T>G",
          "hgvs_p": null,
          "transcript": "NM_001385704.1",
          "protein_id": "NP_001372633.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 389,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1170,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001385704.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ELAVL2",
          "gene_hgnc_id": 3313,
          "hgvs_c": "c.-19-4657T>G",
          "hgvs_p": null,
          "transcript": "ENST00000380110.8",
          "protein_id": "ENSP00000369453.4",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 389,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1170,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000380110.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ELAVL2",
          "gene_hgnc_id": 3313,
          "hgvs_c": "c.-19-4657T>G",
          "hgvs_p": null,
          "transcript": "NM_001351456.2",
          "protein_id": "NP_001338385.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 388,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1167,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001351456.2"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ELAVL2",
          "gene_hgnc_id": 3313,
          "hgvs_c": "c.-19-4657T>G",
          "hgvs_p": null,
          "transcript": "NM_001351457.2",
          "protein_id": "NP_001338386.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 388,
          "cds_start": null,
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          "cds_length": 1167,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001351457.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 1,
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          "gene_symbol": "ELAVL2",
          "gene_hgnc_id": 3313,
          "hgvs_c": "c.-19-4657T>G",
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          "aa_length": 388,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "consequences": [
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          "gene_symbol": "ELAVL2",
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          "hgvs_c": "c.-19-4657T>G",
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        },
        {
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          "canonical": false,
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          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ELAVL2",
          "gene_hgnc_id": 3313,
          "hgvs_c": "c.-19-4657T>G",
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          "transcript": "NM_001351460.2",
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        {
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        {
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          "gene_symbol": "ELAVL2",
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          "transcript": "NM_001385699.1",
          "protein_id": "NP_001372628.1",
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        {
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          "gene_symbol": "ELAVL2",
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          "hgvs_c": "c.-19-4657T>G",
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          "transcript": "NM_001385700.1",
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        {
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        {
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          ],
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          "gene_symbol": "ELAVL2",
          "gene_hgnc_id": 3313,
          "hgvs_c": "c.-19-4657T>G",
          "hgvs_p": null,
          "transcript": "NM_001351463.2",
          "protein_id": "NP_001338392.1",
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          "cdna_start": null,
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        },
        {
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          "consequences": [
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          ],
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      "gnomad_exomes_af": null,
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      "gnomad_mito_homoplasmic": null,
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      "computational_score_selected": -0.8399999737739563,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "bayesdelnoaf_score": -0.84,
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      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
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      "acmg_score": -12,
      "acmg_classification": "Benign",
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      "acmg_by_gene": [
        {
          "score": -12,
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          "verdict": "Benign",
          "transcript": "NM_001351455.2",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}