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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: 14-101964717-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=101964717&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 101964717,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001376.5",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.26G>A",
          "hgvs_p": "p.Gly9Asp",
          "transcript": "NM_001376.5",
          "protein_id": "NP_001367.2",
          "transcript_support_level": null,
          "aa_start": 9,
          "aa_end": null,
          "aa_length": 4646,
          "cds_start": 26,
          "cds_end": null,
          "cds_length": 13941,
          "cdna_start": 145,
          "cdna_end": null,
          "cdna_length": 19940,
          "mane_select": "ENST00000360184.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.26G>A",
          "hgvs_p": "p.Gly9Asp",
          "transcript": "ENST00000360184.10",
          "protein_id": "ENSP00000348965.4",
          "transcript_support_level": 1,
          "aa_start": 9,
          "aa_end": null,
          "aa_length": 4646,
          "cds_start": 26,
          "cds_end": null,
          "cds_length": 13941,
          "cdna_start": 145,
          "cdna_end": null,
          "cdna_length": 19940,
          "mane_select": "NM_001376.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 77,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.26G>A",
          "hgvs_p": "p.Gly9Asp",
          "transcript": "ENST00000681574.1",
          "protein_id": "ENSP00000505523.1",
          "transcript_support_level": null,
          "aa_start": 9,
          "aa_end": null,
          "aa_length": 4672,
          "cds_start": 26,
          "cds_end": null,
          "cds_length": 14019,
          "cdna_start": 145,
          "cdna_end": null,
          "cdna_length": 14519,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.26G>A",
          "hgvs_p": "p.Gly9Asp",
          "transcript": "ENST00000679720.1",
          "protein_id": "ENSP00000505938.1",
          "transcript_support_level": null,
          "aa_start": 9,
          "aa_end": null,
          "aa_length": 4637,
          "cds_start": 26,
          "cds_end": null,
          "cds_length": 13914,
          "cdna_start": 145,
          "cdna_end": null,
          "cdna_length": 19903,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.26G>A",
          "hgvs_p": "p.Gly9Asp",
          "transcript": "ENST00000644881.2",
          "protein_id": "ENSP00000495022.2",
          "transcript_support_level": null,
          "aa_start": 9,
          "aa_end": null,
          "aa_length": 4604,
          "cds_start": 26,
          "cds_end": null,
          "cds_length": 13815,
          "cdna_start": 145,
          "cdna_end": null,
          "cdna_length": 14291,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 77,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.26G>A",
          "hgvs_p": "p.Gly9Asp",
          "transcript": "ENST00000645149.2",
          "protein_id": "ENSP00000495944.2",
          "transcript_support_level": null,
          "aa_start": 9,
          "aa_end": null,
          "aa_length": 4597,
          "cds_start": 26,
          "cds_end": null,
          "cds_length": 13794,
          "cdna_start": 145,
          "cdna_end": null,
          "cdna_length": 14134,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 58,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.26G>A",
          "hgvs_p": "p.Gly9Asp",
          "transcript": "ENST00000680137.1",
          "protein_id": "ENSP00000505294.1",
          "transcript_support_level": null,
          "aa_start": 9,
          "aa_end": null,
          "aa_length": 3668,
          "cds_start": 26,
          "cds_end": null,
          "cds_length": 11007,
          "cdna_start": 145,
          "cdna_end": null,
          "cdna_length": 11328,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 57,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.26G>A",
          "hgvs_p": "p.Gly9Asp",
          "transcript": "ENST00000643508.2",
          "protein_id": "ENSP00000495528.2",
          "transcript_support_level": null,
          "aa_start": 9,
          "aa_end": null,
          "aa_length": 3641,
          "cds_start": 26,
          "cds_end": null,
          "cds_length": 10926,
          "cdna_start": 145,
          "cdna_end": null,
          "cdna_length": 11802,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.26G>A",
          "hgvs_p": "p.Gly9Asp",
          "transcript": "ENST00000645114.2",
          "protein_id": "ENSP00000495884.2",
          "transcript_support_level": null,
          "aa_start": 9,
          "aa_end": null,
          "aa_length": 2726,
          "cds_start": 26,
          "cds_end": null,
          "cds_length": 8181,
          "cdna_start": 134,
          "cdna_end": null,
          "cdna_length": 8400,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.145G>A",
          "hgvs_p": null,
          "transcript": "ENST00000643684.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 7596,
          "mane_select": null,
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
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          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.26G>A",
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          "transcript": "ENST00000643958.2",
          "protein_id": "ENSP00000505734.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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          "cdna_length": 6059,
          "mane_select": null,
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        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
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          "exon_count": 76,
          "intron_rank": null,
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          "gene_symbol": "DYNC1H1",
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        {
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "DYNC1H1",
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          "hgvs_c": "n.26G>A",
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          "transcript": "ENST00000679486.1",
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        {
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          "strand": true,
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          ],
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          "exon_count": 65,
          "intron_rank": null,
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          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.26G>A",
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          "transcript": "ENST00000679629.1",
          "protein_id": "ENSP00000505589.1",
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        {
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          ],
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          "strand": true,
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          ],
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          "exon_count": 24,
          "intron_rank": null,
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          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.26G>A",
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          "transcript": "ENST00000680001.1",
          "protein_id": "ENSP00000506351.1",
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        {
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          "consequences": [
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          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
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          "gene_symbol": "DYNC1H1",
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          "hgvs_c": "n.26G>A",
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          "transcript": "ENST00000680120.1",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "DYNC1H1",
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          "intron_rank": null,
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          "gene_symbol": "DYNC1H1",
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          "hgvs_c": "n.26G>A",
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        {
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          "strand": true,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.26G>A",
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          "transcript": "ENST00000680423.1",
          "protein_id": "ENSP00000505483.1",
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          "cdna_start": null,
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          "cdna_length": 14201,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
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          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.26G>A",
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      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
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      "gnomad_exomes_af": 0,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 0,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
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      "computational_score_selected": 0.17658308148384094,
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      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.077,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1405,
      "alphamissense_prediction": "Benign",
      "bayesdelnoaf_score": -0.39,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 5.061,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
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          "score": 0,
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            "BP4_Moderate"
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          "verdict": "Uncertain_significance",
          "transcript": "NM_001376.5",
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      "clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2O",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Charcot-Marie-Tooth disease axonal type 2O",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
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  ],
  "message": null
}