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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: 6-30900181-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30900181&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 30900181,
      "ref": "T",
      "alt": "G",
      "effect": "downstream_gene_variant",
      "transcript": "ENST00000376568.8",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDR1",
          "gene_hgnc_id": 2730,
          "hgvs_c": "c.*885T>G",
          "hgvs_p": null,
          "transcript": "NM_001297654.2",
          "protein_id": "NP_001284583.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 913,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2742,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3836,
          "mane_select": "ENST00000376568.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDR1",
          "gene_hgnc_id": 2730,
          "hgvs_c": "c.*885T>G",
          "hgvs_p": null,
          "transcript": "ENST00000376568.8",
          "protein_id": "ENSP00000365752.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 913,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2742,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3836,
          "mane_select": "NM_001297654.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDR1",
          "gene_hgnc_id": 2730,
          "hgvs_c": "c.*885T>G",
          "hgvs_p": null,
          "transcript": "ENST00000452441.5",
          "protein_id": "ENSP00000405039.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 913,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2742,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3857,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDR1",
          "gene_hgnc_id": 2730,
          "hgvs_c": "c.*885T>G",
          "hgvs_p": null,
          "transcript": "ENST00000376567.6",
          "protein_id": "ENSP00000365751.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 876,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2631,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3832,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDR1",
          "gene_hgnc_id": 2730,
          "hgvs_c": "c.*885T>G",
          "hgvs_p": null,
          "transcript": "ENST00000376570.8",
          "protein_id": "ENSP00000365754.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 876,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2631,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3820,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDR1",
          "gene_hgnc_id": 2730,
          "hgvs_c": "c.*885T>G",
          "hgvs_p": null,
          "transcript": "NM_001387892.1",
          "protein_id": "NP_001374821.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 919,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "DDR1",
          "gene_hgnc_id": 2730,
          "hgvs_c": "c.*885T>G",
          "hgvs_p": null,
          "transcript": "NM_013994.3",
          "protein_id": "NP_054700.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 919,
          "cds_start": -4,
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          "cds_length": 2760,
          "cdna_start": null,
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          "cdna_length": 3854,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDR1",
          "gene_hgnc_id": 2730,
          "hgvs_c": "c.*885T>G",
          "hgvs_p": null,
          "transcript": "NM_001387893.1",
          "protein_id": "NP_001374822.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 913,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3800,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDR1",
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          "hgvs_c": "c.*885T>G",
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          "transcript": "NM_001387894.1",
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        },
        {
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          "consequences": [
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          "intron_rank": null,
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          "gene_symbol": "DDR1",
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          "hgvs_c": "c.*885T>G",
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          "transcript": "NM_001387895.1",
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          "intron_rank_end": null,
          "gene_symbol": "DDR1",
          "gene_hgnc_id": 2730,
          "hgvs_c": "c.*885T>G",
          "hgvs_p": null,
          "transcript": "XM_047419332.1",
          "protein_id": "XP_047275288.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 894,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2685,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3932,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDR1",
          "gene_hgnc_id": 2730,
          "hgvs_c": "c.*885T>G",
          "hgvs_p": null,
          "transcript": "XM_047419333.1",
          "protein_id": "XP_047275289.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 894,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2685,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3920,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "DDR1",
      "gene_hgnc_id": 2730,
      "dbsnp": "rs9468843",
      "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": -0.8399999737739563,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.84,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 2.232,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000376568.8",
          "gene_symbol": "DDR1",
          "hgnc_id": 2730,
          "effects": [
            "downstream_gene_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.*885T>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
}