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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: 11-71999989-CCAT-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=71999989&ref=CCAT&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 71999989,
      "ref": "CCAT",
      "alt": "C",
      "effect": "disruptive_inframe_deletion",
      "transcript": "NM_001039660.2",
      "consequences": [
        {
          "aa_ref": "TM",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "c.6_8delCAT",
          "hgvs_p": "p.Met3del",
          "transcript": "NM_001039660.2",
          "protein_id": "NP_001034749.1",
          "transcript_support_level": null,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 194,
          "cds_start": 6,
          "cds_end": null,
          "cds_length": 585,
          "cdna_start": 175,
          "cdna_end": null,
          "cdna_length": 1697,
          "mane_select": "ENST00000393703.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "TM",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "c.6_8delCAT",
          "hgvs_p": "p.Met3del",
          "transcript": "ENST00000393703.9",
          "protein_id": "ENSP00000377306.4",
          "transcript_support_level": 3,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 194,
          "cds_start": 6,
          "cds_end": null,
          "cds_length": 585,
          "cdna_start": 175,
          "cdna_end": null,
          "cdna_length": 1697,
          "mane_select": "NM_001039660.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "TM",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "c.6_8delCAT",
          "hgvs_p": "p.Met3del",
          "transcript": "ENST00000497194.6",
          "protein_id": "ENSP00000434717.1",
          "transcript_support_level": 1,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 199,
          "cds_start": 6,
          "cds_end": null,
          "cds_length": 600,
          "cdna_start": 1378,
          "cdna_end": null,
          "cdna_length": 4080,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "TM",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "c.6_8delCAT",
          "hgvs_p": "p.Met3del",
          "transcript": "ENST00000393705.8",
          "protein_id": "ENSP00000377308.4",
          "transcript_support_level": 1,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 194,
          "cds_start": 6,
          "cds_end": null,
          "cds_length": 585,
          "cdna_start": 304,
          "cdna_end": null,
          "cdna_length": 1549,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "TM",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "c.6_8delCAT",
          "hgvs_p": "p.Met3del",
          "transcript": "ENST00000404792.5",
          "protein_id": "ENSP00000384212.1",
          "transcript_support_level": 1,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 194,
          "cds_start": 6,
          "cds_end": null,
          "cds_length": 585,
          "cdna_start": 928,
          "cdna_end": null,
          "cdna_length": 2172,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "TM",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "c.6_8delCAT",
          "hgvs_p": "p.Met3del",
          "transcript": "ENST00000393707.4",
          "protein_id": "ENSP00000377310.4",
          "transcript_support_level": 1,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 115,
          "cds_start": 6,
          "cds_end": null,
          "cds_length": 348,
          "cdna_start": 64,
          "cdna_end": null,
          "cdna_length": 1037,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "n.6_8delCAT",
          "hgvs_p": null,
          "transcript": "ENST00000343898.9",
          "protein_id": "ENSP00000343309.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1720,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "TM",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "c.6_8delCAT",
          "hgvs_p": "p.Met3del",
          "transcript": "NM_005699.3",
          "protein_id": "NP_005690.2",
          "transcript_support_level": null,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 199,
          "cds_start": 6,
          "cds_end": null,
          "cds_length": 600,
          "cdna_start": 928,
          "cdna_end": null,
          "cdna_length": 2796,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "TM",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "c.6_8delCAT",
          "hgvs_p": "p.Met3del",
          "transcript": "ENST00000531053.5",
          "protein_id": "ENSP00000434835.1",
          "transcript_support_level": 2,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 199,
          "cds_start": 6,
          "cds_end": null,
          "cds_length": 600,
          "cdna_start": 159,
          "cdna_end": null,
          "cdna_length": 853,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "TM",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "c.6_8delCAT",
          "hgvs_p": "p.Met3del",
          "transcript": "NM_001039659.2",
          "protein_id": "NP_001034748.1",
          "transcript_support_level": null,
          "aa_start": 2,
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          "aa_length": 194,
          "cds_start": 6,
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          "cdna_start": 287,
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          "cdna_length": 1809,
          "mane_select": null,
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "c.6_8delCAT",
          "hgvs_p": "p.Met3del",
          "transcript": "NM_001145057.1",
          "protein_id": "NP_001138529.1",
          "transcript_support_level": null,
          "aa_start": 2,
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          "cds_start": 6,
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          "cds_length": 585,
          "cdna_start": 110,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "TM",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "intron_rank": null,
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          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "c.6_8delCAT",
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          "transcript": "NM_173042.2",
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        },
        {
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          ],
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          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "c.6_8delCAT",
          "hgvs_p": "p.Met3del",
          "transcript": "ENST00000337131.9",
          "protein_id": "ENSP00000338723.5",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "c.6_8delCAT",
          "hgvs_p": "p.Met3del",
          "transcript": "NM_173044.3",
          "protein_id": "NP_766632.2",
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          "mane_select": null,
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        },
        {
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          "gene_symbol": "IL18BP",
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          "transcript": "ENST00000620017.4",
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          "feature": null
        },
        {
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          "strand": true,
          "consequences": [
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          "exon_count": 3,
          "intron_rank": null,
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          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "c.6_8delCAT",
          "hgvs_p": "p.Met3del",
          "transcript": "NM_001145055.1",
          "protein_id": "NP_001138527.1",
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        },
        {
          "aa_ref": "TM",
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          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "c.6_8delCAT",
          "hgvs_p": "p.Met3del",
          "transcript": "ENST00000698841.1",
          "protein_id": "ENSP00000513977.1",
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          "cdna_start": 65,
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          "feature": null
        },
        {
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          "intron_rank": null,
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          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "c.6_8delCAT",
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        },
        {
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          ],
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          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
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          "feature": null
        },
        {
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          "consequences": [
            "disruptive_inframe_deletion"
          ],
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          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "c.6_8delCAT",
          "hgvs_p": "p.Met3del",
          "transcript": "XM_017017063.2",
          "protein_id": "XP_016872552.1",
          "transcript_support_level": null,
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          "cds_length": 585,
          "cdna_start": 221,
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          "cdna_length": 1743,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 6,
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        {
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        }
      ],
      "gene_symbol": "IL18BP",
      "gene_hgnc_id": 5987,
      "dbsnp": null,
      "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": null,
      "computational_prediction_selected": null,
      "computational_source_selected": null,
      "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": null,
      "bayesdelnoaf_prediction": null,
      "phylop100way_score": 0.128,
      "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": 3,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PM4_Supporting",
      "acmg_by_gene": [
        {
          "score": 3,
          "benign_score": 0,
          "pathogenic_score": 3,
          "criteria": [
            "PM2",
            "PM4_Supporting"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001039660.2",
          "gene_symbol": "IL18BP",
          "hgnc_id": 5987,
          "effects": [
            "disruptive_inframe_deletion"
          ],
          "inheritance_mode": "Unknown",
          "hgvs_c": "c.6_8delCAT",
          "hgvs_p": "p.Met3del"
        }
      ],
      "clinvar_disease": "not provided",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}