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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: 16-15703414-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15703414&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 15703414,
      "ref": "T",
      "alt": "C",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_002474.3",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.*577A>G",
          "hgvs_p": null,
          "transcript": "NM_002474.3",
          "protein_id": "NP_002465.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1972,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5919,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6880,
          "mane_select": "ENST00000300036.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.*577A>G",
          "hgvs_p": null,
          "transcript": "ENST00000300036.6",
          "protein_id": "ENSP00000300036.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1972,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5919,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6880,
          "mane_select": "NM_002474.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.*718A>G",
          "hgvs_p": null,
          "transcript": "NM_001040113.2",
          "protein_id": "NP_001035202.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1945,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5838,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6940,
          "mane_select": null,
          "mane_plus": "ENST00000452625.7",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.*718A>G",
          "hgvs_p": null,
          "transcript": "ENST00000452625.7",
          "protein_id": "ENSP00000407821.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1945,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5838,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6940,
          "mane_select": null,
          "mane_plus": "NM_001040113.2",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.*577A>G",
          "hgvs_p": null,
          "transcript": "ENST00000396324.7",
          "protein_id": "ENSP00000379616.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1979,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5940,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6847,
          "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": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.947+6554T>C",
          "hgvs_p": null,
          "transcript": "NM_017668.3",
          "protein_id": "NP_060138.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3203,
          "mane_select": "ENST00000396354.6",
          "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": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.947+6554T>C",
          "hgvs_p": null,
          "transcript": "ENST00000396354.6",
          "protein_id": "ENSP00000379642.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3203,
          "mane_select": "NM_017668.3",
          "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": 9,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.947+6554T>C",
          "hgvs_p": null,
          "transcript": "ENST00000396355.5",
          "protein_id": "ENSP00000379643.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3936,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.*577A>G",
          "hgvs_p": null,
          "transcript": "NM_001040114.2",
          "protein_id": "NP_001035203.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1979,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5940,
          "cdna_start": null,
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          "cdna_length": 6901,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.*577A>G",
          "hgvs_p": null,
          "transcript": "ENST00000713757.1",
          "protein_id": "ENSP00000519058.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1972,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5919,
          "cdna_start": null,
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          "cdna_length": 7006,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.*718A>G",
          "hgvs_p": null,
          "transcript": "NM_022844.3",
          "protein_id": "NP_074035.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1938,
          "cds_start": -4,
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          "cds_length": 5817,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6919,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.1030+6554T>C",
          "hgvs_p": null,
          "transcript": "ENST00000577101.6",
          "protein_id": "ENSP00000461729.2",
          "transcript_support_level": 4,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
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          "exon_count": 10,
          "intron_rank": 9,
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          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.947+6554T>C",
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          "transcript": "NM_001143979.2",
          "protein_id": "NP_001137451.1",
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        {
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          "intron_rank": 7,
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          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.795+9158T>C",
          "hgvs_p": null,
          "transcript": "ENST00000674995.1",
          "protein_id": "ENSP00000502414.1",
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          "cdna_start": null,
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          "mane_select": null,
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        {
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        {
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          "gene_symbol": "NDE1",
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          "hgvs_c": "c.*6+6554T>C",
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          "transcript": "ENST00000674581.1",
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        {
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          "gene_symbol": "NDE1",
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          "hgvs_c": "c.*32+3560T>C",
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          "transcript": "ENST00000572967.1",
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        {
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          ],
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          "gene_symbol": "NDE1",
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        {
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          "gene_symbol": "NDE1",
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          "transcript": "ENST00000674554.1",
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "n.795+9158T>C",
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          "protein_coding": false,
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          "exon_count": 11,
          "intron_rank": 9,
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          "gene_symbol": "NDE1",
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          "hgvs_c": "n.*699+6554T>C",
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        },
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          "gene_symbol": "NDE1",
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          "hgvs_c": "n.947+6554T>C",
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          "transcript": "ENST00000675926.1",
          "protein_id": "ENSP00000502354.1",
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        },
        {
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          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "n.947+6554T>C",
          "hgvs_p": null,
          "transcript": "ENST00000675951.1",
          "protein_id": "ENSP00000502160.1",
          "transcript_support_level": null,
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          "cdna_length": 5861,
          "mane_select": null,
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        }
      ],
      "gene_symbol": "MYH11",
      "gene_hgnc_id": 7569,
      "dbsnp": "rs886051731",
      "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": -0.6000000238418579,
      "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": -0.6,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.315,
      "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": -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": "NM_002474.3",
          "gene_symbol": "MYH11",
          "hgnc_id": 7569,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.*577A>G",
          "hgvs_p": null
        },
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_017668.3",
          "gene_symbol": "NDE1",
          "hgnc_id": 17619,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR,Unknown",
          "hgvs_c": "c.947+6554T>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": " Recessive, familial thoracic 4,Aortic aneurysm,Familial thoracic aortic aneurysm and aortic dissection,Lissencephaly",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:3",
      "phenotype_combined": "Lissencephaly, Recessive|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 4",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}