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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: 5-88720336-ATT-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=88720336&ref=ATT&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 88720336,
      "ref": "ATT",
      "alt": "A",
      "effect": "splice_region_variant",
      "transcript": "ENST00000437473.6",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2C",
          "gene_hgnc_id": 6996,
          "hgvs_c": "c.*2266_*2267delAA",
          "hgvs_p": null,
          "transcript": "ENST00000437473.6",
          "protein_id": "ENSP00000396219.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 473,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1422,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000437473.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2C",
          "gene_hgnc_id": 6996,
          "hgvs_c": "c.*2266_*2267delAA",
          "hgvs_p": null,
          "transcript": "NM_002397.5",
          "protein_id": "NP_002388.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 473,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1422,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000504921.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002397.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2C",
          "gene_hgnc_id": 6996,
          "hgvs_c": "c.*2266_*2267delAA",
          "hgvs_p": null,
          "transcript": "ENST00000504921.7",
          "protein_id": "ENSP00000421925.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 473,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1422,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_002397.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000504921.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2C",
          "gene_hgnc_id": 6996,
          "hgvs_c": "c.*2266_*2267delAA",
          "hgvs_p": null,
          "transcript": "ENST00000340208.9",
          "protein_id": "ENSP00000340874.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 483,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1452,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000340208.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2C",
          "gene_hgnc_id": 6996,
          "hgvs_c": "c.*2266_*2267delAA",
          "hgvs_p": null,
          "transcript": "ENST00000437473.6",
          "protein_id": "ENSP00000396219.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 473,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1422,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000437473.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2C",
          "gene_hgnc_id": 6996,
          "hgvs_c": "c.*2266_*2267delAA",
          "hgvs_p": null,
          "transcript": "ENST00000424173.6",
          "protein_id": "ENSP00000389610.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000424173.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2C",
          "gene_hgnc_id": 6996,
          "hgvs_c": "c.*2266_*2267delAA",
          "hgvs_p": null,
          "transcript": "ENST00000860129.1",
          "protein_id": "ENSP00000530188.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 473,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1422,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860129.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2C",
          "gene_hgnc_id": 6996,
          "hgvs_c": "c.*2266_*2267delAA",
          "hgvs_p": null,
          "transcript": "ENST00000860118.1",
          "protein_id": "ENSP00000530177.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 465,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1398,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860118.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2C",
          "gene_hgnc_id": 6996,
          "hgvs_c": "c.*2266_*2267delAA",
          "hgvs_p": null,
          "transcript": "ENST00000860131.1",
          "protein_id": "ENSP00000530190.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 465,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1398,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860131.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2C",
          "gene_hgnc_id": 6996,
          "hgvs_c": "c.*2266_*2267delAA",
          "hgvs_p": null,
          "transcript": "ENST00000860133.1",
          "protein_id": "ENSP00000530192.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 465,
          "cds_start": null,
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          "cds_length": 1398,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
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          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "MEF2C",
          "gene_hgnc_id": 6996,
          "hgvs_c": "c.*2266_*2267delAA",
          "hgvs_p": null,
          "transcript": "ENST00000860119.1",
          "protein_id": "ENSP00000530178.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 463,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860119.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "MEF2C",
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          "hgvs_c": "c.*2266_*2267delAA",
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          "protein_id": "ENSP00000614440.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "mane_select": null,
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        {
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          ],
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          "gene_symbol": "MEF2C",
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          "hgvs_c": "c.*2266_*2267delAA",
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          "transcript": "ENST00000860115.1",
          "protein_id": "ENSP00000530174.1",
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        {
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          "canonical": false,
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          ],
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "MEF2C",
          "gene_hgnc_id": 6996,
          "hgvs_c": "c.*2266_*2267delAA",
          "hgvs_p": null,
          "transcript": "ENST00000860112.1",
          "protein_id": "ENSP00000530171.1",
          "transcript_support_level": null,
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          "cds_start": null,
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        {
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          ],
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "MEF2C",
          "gene_hgnc_id": 6996,
          "hgvs_c": "c.*2266_*2267delAA",
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          "transcript": "ENST00000860117.1",
          "protein_id": "ENSP00000530176.1",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "MEF2C",
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          "hgvs_c": "c.*2266_*2267delAA",
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          "transcript": "ENST00000944371.1",
          "protein_id": "ENSP00000614430.1",
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        {
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        {
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        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2C",
          "gene_hgnc_id": 6996,
          "hgvs_c": "c.*2266_*2267delAA",
          "hgvs_p": null,
          "transcript": "NM_001364329.2",
          "protein_id": "NP_001351258.1",
          "transcript_support_level": null,
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          "aa_length": 473,
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          "biotype": "protein_coding",
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        },
        {
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      "gnomad_exomes_af": 0,
      "gnomad_genomes_af": 0,
      "gnomad_exomes_ac": 0,
      "gnomad_genomes_ac": 0,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "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": -0.007,
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 0,
          "pathogenic_score": 0,
          "criteria": [],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000437473.6",
          "gene_symbol": "MEF2C",
          "hgnc_id": 6996,
          "effects": [
            "splice_region_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.*2266_*2267delAA",
          "hgvs_p": null
        },
        {
          "score": 0,
          "benign_score": 0,
          "pathogenic_score": 0,
          "criteria": [],
          "verdict": "Uncertain_significance",
          "transcript": "NR_146284.1",
          "gene_symbol": "MEF2C-AS2",
          "hgnc_id": 53115,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.256-2277_256-2276delTT",
          "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
}