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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: 17-4897899-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4897899&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 4897899,
      "ref": "T",
      "alt": "C",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_153827.5",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MINK1",
          "gene_hgnc_id": 17565,
          "hgvs_c": "n.*4280T>C",
          "hgvs_p": null,
          "transcript": "ENST00000574453.5",
          "protein_id": "ENSP00000461500.1",
          "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": 4941,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MINK1",
          "gene_hgnc_id": 17565,
          "hgvs_c": "c.*612T>C",
          "hgvs_p": null,
          "transcript": "NM_153827.5",
          "protein_id": "NP_722549.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1332,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3999,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5017,
          "mane_select": "ENST00000355280.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MINK1",
          "gene_hgnc_id": 17565,
          "hgvs_c": "c.*612T>C",
          "hgvs_p": null,
          "transcript": "ENST00000355280.11",
          "protein_id": "ENSP00000347427.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1332,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3999,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5017,
          "mane_select": "NM_153827.5",
          "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": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNE",
          "gene_hgnc_id": 1966,
          "hgvs_c": "c.*837A>G",
          "hgvs_p": null,
          "transcript": "NM_000080.4",
          "protein_id": "NP_000071.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1482,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2482,
          "mane_select": "ENST00000649488.2",
          "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": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNE",
          "gene_hgnc_id": 1966,
          "hgvs_c": "c.*837A>G",
          "hgvs_p": null,
          "transcript": "ENST00000649488.2",
          "protein_id": "ENSP00000497829.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1482,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2482,
          "mane_select": "NM_000080.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MINK1",
          "gene_hgnc_id": 17565,
          "hgvs_c": "c.*612T>C",
          "hgvs_p": null,
          "transcript": "ENST00000347992.11",
          "protein_id": "ENSP00000269296.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1303,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3912,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4863,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MINK1",
          "gene_hgnc_id": 17565,
          "hgvs_c": "n.*4280T>C",
          "hgvs_p": null,
          "transcript": "ENST00000574453.5",
          "protein_id": "ENSP00000461500.1",
          "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": 4941,
          "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": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MINK1",
          "gene_hgnc_id": 17565,
          "hgvs_c": "n.*3262T>C",
          "hgvs_p": null,
          "transcript": "ENST00000571207.5",
          "protein_id": "ENSP00000459699.1",
          "transcript_support_level": 5,
          "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": 4569,
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MINK1",
          "gene_hgnc_id": 17565,
          "hgvs_c": "n.2989T>C",
          "hgvs_p": null,
          "transcript": "ENST00000574871.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 3150,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNE",
          "gene_hgnc_id": 1966,
          "hgvs_c": "n.2045A>G",
          "hgvs_p": null,
          "transcript": "ENST00000652550.1",
          "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,
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          "cdna_length": 2173,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MINK1",
          "gene_hgnc_id": 17565,
          "hgvs_c": "c.*612T>C",
          "hgvs_p": null,
          "transcript": "NM_001024937.4",
          "protein_id": "NP_001020108.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1312,
          "cds_start": -4,
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          "cds_length": 3939,
          "cdna_start": null,
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          "cdna_length": 4957,
          "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": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MINK1",
          "gene_hgnc_id": 17565,
          "hgvs_c": "c.*612T>C",
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          "protein_id": "NP_733763.1",
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
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          "gene_symbol": "MINK1",
          "gene_hgnc_id": 17565,
          "hgvs_c": "c.*612T>C",
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          "transcript": "NM_015716.5",
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          "cds_start": -4,
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        {
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          ],
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          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MINK1",
          "gene_hgnc_id": 17565,
          "hgvs_c": "c.*612T>C",
          "hgvs_p": null,
          "transcript": "NM_001321236.2",
          "protein_id": "NP_001308165.1",
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          "cds_start": -4,
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          "cdna_length": 5022,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "consequences": [
            "3_prime_UTR_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
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          "gene_symbol": "MINK1",
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        {
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          "exon_count": 33,
          "intron_rank": null,
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          "gene_symbol": "MINK1",
          "gene_hgnc_id": 17565,
          "hgvs_c": "c.*612T>C",
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          "transcript": "XM_006721531.2",
          "protein_id": "XP_006721594.1",
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        {
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          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
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          "gene_symbol": "MINK1",
          "gene_hgnc_id": 17565,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 33,
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          "exon_count": 33,
          "intron_rank": null,
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          "gene_symbol": "MINK1",
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          "hgvs_c": "c.*612T>C",
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          "intron_rank": null,
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          "gene_symbol": "MINK1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "MINK1",
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          "feature": null
        },
        {
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          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MINK1",
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          "hgvs_c": "c.*612T>C",
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      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.550000011920929,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.55,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.223,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "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": -20,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -20,
          "benign_score": 20,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_153827.5",
          "gene_symbol": "MINK1",
          "hgnc_id": 17565,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.*612T>C",
          "hgvs_p": null
        },
        {
          "score": -20,
          "benign_score": 20,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_000080.4",
          "gene_symbol": "CHRNE",
          "hgnc_id": 1966,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.*837A>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Congenital myasthenic syndrome,not provided",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:2",
      "phenotype_combined": "Congenital myasthenic syndrome|not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}