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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: 1-150939931-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150939931&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 150939931,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_001366417.1",
      "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SETDB1",
          "gene_hgnc_id": 10761,
          "hgvs_c": "c.413-9C>T",
          "hgvs_p": null,
          "transcript": "NM_001366418.1",
          "protein_id": "NP_001353347.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1292,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3879,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000692827.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001366418.1"
        },
        {
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SETDB1",
          "gene_hgnc_id": 10761,
          "hgvs_c": "c.413-9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000692827.1",
          "protein_id": "ENSP00000509425.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1292,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3879,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001366418.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000692827.1"
        },
        {
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SETDB1",
          "gene_hgnc_id": 10761,
          "hgvs_c": "c.413-9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000271640.9",
          "protein_id": "ENSP00000271640.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1291,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3876,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000271640.9"
        },
        {
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SETDB1",
          "gene_hgnc_id": 10761,
          "hgvs_c": "c.413-9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000368969.8",
          "protein_id": "ENSP00000357965.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1290,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3873,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000368969.8"
        },
        {
          "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": 13,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SETDB1",
          "gene_hgnc_id": 10761,
          "hgvs_c": "c.413-9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000534805.5",
          "protein_id": "ENSP00000436148.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 635,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000534805.5"
        },
        {
          "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": 9,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SETDB1",
          "gene_hgnc_id": 10761,
          "hgvs_c": "c.413-9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000368962.6",
          "protein_id": "ENSP00000357958.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 397,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1194,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000368962.6"
        },
        {
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SETDB1",
          "gene_hgnc_id": 10761,
          "hgvs_c": "c.413-9C>T",
          "hgvs_p": null,
          "transcript": "NM_001366417.1",
          "protein_id": "NP_001353346.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1292,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3879,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001366417.1"
        },
        {
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SETDB1",
          "gene_hgnc_id": 10761,
          "hgvs_c": "c.413-9C>T",
          "hgvs_p": null,
          "transcript": "NM_001393958.1",
          "protein_id": "NP_001380887.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1292,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3879,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001393958.1"
        },
        {
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SETDB1",
          "gene_hgnc_id": 10761,
          "hgvs_c": "c.413-9C>T",
          "hgvs_p": null,
          "transcript": "NM_001393959.1",
          "protein_id": "NP_001380888.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1292,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3879,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001393959.1"
        },
        {
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SETDB1",
          "gene_hgnc_id": 10761,
          "hgvs_c": "c.413-9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000692314.1",
          "protein_id": "ENSP00000508664.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1292,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3879,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000692314.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SETDB1",
          "gene_hgnc_id": 10761,
          "hgvs_c": "c.413-9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000884739.1",
          "protein_id": "ENSP00000554798.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1292,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3879,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000884739.1"
        },
        {
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SETDB1",
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          "hgvs_p": null,
          "transcript": "ENST00000884743.1",
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          "aa_start": null,
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          "aa_length": 1292,
          "cds_start": null,
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          "cdna_start": null,
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        {
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          "gene_symbol": "SETDB1",
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          "hgvs_c": "c.413-9C>T",
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          "transcript": "ENST00000923174.1",
          "protein_id": "ENSP00000593233.1",
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        {
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          "intron_rank": 3,
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          "gene_symbol": "SETDB1",
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          "hgvs_c": "c.413-9C>T",
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          "transcript": "ENST00000923175.1",
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        {
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        {
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          "intron_rank": 3,
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          "gene_symbol": "SETDB1",
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          "hgvs_c": "c.413-9C>T",
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          "transcript": "NM_001393960.1",
          "protein_id": "NP_001380889.1",
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        {
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          "gene_symbol": "SETDB1",
          "gene_hgnc_id": 10761,
          "hgvs_c": "c.413-9C>T",
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          "transcript": "NM_001393961.1",
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          "gene_symbol": "SETDB1",
          "gene_hgnc_id": 10761,
          "hgvs_c": "c.413-9C>T",
          "hgvs_p": null,
          "transcript": "NM_012432.4",
          "protein_id": "NP_036564.3",
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_012432.4"
        },
        {
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      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.27000001072883606,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.36000001430511475,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.27,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.083,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": 0.0293612427906024,
      "dbscsnv_ada_prediction": "Benign",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -8,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP6_Moderate,BS2",
      "acmg_by_gene": [
        {
          "score": -8,
          "benign_score": 8,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6_Moderate",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_001366417.1",
          "gene_symbol": "SETDB1",
          "hgnc_id": 10761,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.413-9C>T",
          "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
}