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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: 22-23155487-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=23155487&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 23155487,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000263116.8",
      "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "RAB36",
          "gene_hgnc_id": 9775,
          "hgvs_c": "c.330-481T>C",
          "hgvs_p": null,
          "transcript": "NM_004914.5",
          "protein_id": "NP_004905.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 267,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 804,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4990,
          "mane_select": "ENST00000263116.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "RAB36",
          "gene_hgnc_id": 9775,
          "hgvs_c": "c.330-481T>C",
          "hgvs_p": null,
          "transcript": "ENST00000263116.8",
          "protein_id": "ENSP00000263116.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 267,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 804,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4990,
          "mane_select": "NM_004914.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "RAB36",
          "gene_hgnc_id": 9775,
          "hgvs_c": "c.264-481T>C",
          "hgvs_p": null,
          "transcript": "ENST00000341989.9",
          "protein_id": "ENSP00000343494.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 245,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 738,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 936,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAB36",
          "gene_hgnc_id": 9775,
          "hgvs_c": "c.-160T>C",
          "hgvs_p": null,
          "transcript": "XM_011530552.3",
          "protein_id": "XP_011528854.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 188,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 567,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5165,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "RAB36",
          "gene_hgnc_id": 9775,
          "hgvs_c": "c.600-481T>C",
          "hgvs_p": null,
          "transcript": "NM_001349877.1",
          "protein_id": "NP_001336806.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 357,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1074,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5195,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "RAB36",
          "gene_hgnc_id": 9775,
          "hgvs_c": "c.528-481T>C",
          "hgvs_p": null,
          "transcript": "NM_001349878.1",
          "protein_id": "NP_001336807.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 346,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1041,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5103,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RAB36",
          "gene_hgnc_id": 9775,
          "hgvs_c": "c.210-481T>C",
          "hgvs_p": null,
          "transcript": "ENST00000420895.1",
          "protein_id": "ENSP00000397594.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 131,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 396,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 554,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "RAB36",
          "gene_hgnc_id": 9775,
          "hgvs_c": "n.336-481T>C",
          "hgvs_p": null,
          "transcript": "NR_146295.3",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 4905,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": "RSPH14",
          "gene_hgnc_id": 13437,
          "hgvs_c": "c.-52-15015A>G",
          "hgvs_p": null,
          "transcript": "XM_017028774.2",
          "protein_id": "XP_016884263.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2091,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "RAB36",
          "gene_hgnc_id": 9775,
          "hgvs_c": "c.600-481T>C",
          "hgvs_p": null,
          "transcript": "XM_006724381.5",
          "protein_id": "XP_006724444.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 370,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5195,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "RAB36",
          "gene_hgnc_id": 9775,
          "hgvs_c": "c.600-481T>C",
          "hgvs_p": null,
          "transcript": "XM_011530544.4",
          "protein_id": "XP_011528846.1",
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          "aa_start": null,
          "aa_end": null,
          "aa_length": 349,
          "cds_start": -4,
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          "cds_length": 1050,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "RAB36",
          "gene_hgnc_id": 9775,
          "hgvs_c": "c.519-481T>C",
          "hgvs_p": null,
          "transcript": "XM_017029104.2",
          "protein_id": "XP_016884593.1",
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          "cds_start": -4,
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        {
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          "canonical": false,
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          "intron_rank": 6,
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          "gene_symbol": "RAB36",
          "gene_hgnc_id": 9775,
          "hgvs_c": "c.600-481T>C",
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          "cds_start": -4,
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        {
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          "intron_rank": 6,
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          "gene_symbol": "RAB36",
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          "hgvs_c": "c.600-481T>C",
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          "transcript": "XM_011530546.3",
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        {
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          ],
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          "gene_symbol": "RAB36",
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          "gene_symbol": "RAB36",
          "gene_hgnc_id": 9775,
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        {
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          "gene_symbol": "RAB36",
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        {
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          ],
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          "exon_count": 11,
          "intron_rank": 6,
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          "gene_symbol": "RAB36",
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        },
        {
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          ],
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          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "RAB36",
          "gene_hgnc_id": 9775,
          "hgvs_c": "c.280+2353T>C",
          "hgvs_p": null,
          "transcript": "XM_047441621.1",
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        },
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        },
        {
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          "hgvs_c": "c.447-481T>C",
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          "transcript": "XM_047441622.1",
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        },
        {
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          "gene_symbol": "RAB36",
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          "transcript": "XM_047441623.1",
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      ],
      "gene_symbol": "RAB36",
      "gene_hgnc_id": 9775,
      "dbsnp": "rs5751592",
      "frequency_reference_population": 0.7960697,
      "hom_count_reference_population": 48490,
      "allele_count_reference_population": 121122,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.79607,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 121122,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 48490,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8999999761581421,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "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": -0.9,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.194,
      "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": -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": "ENST00000263116.8",
          "gene_symbol": "RAB36",
          "hgnc_id": 9775,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.330-481T>C",
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        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "XM_017028774.2",
          "gene_symbol": "RSPH14",
          "hgnc_id": 13437,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.-52-15015A>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
}