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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: 20-26208276-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=26208276&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "20",
      "pos": 26208276,
      "ref": "A",
      "alt": "C",
      "effect": "non_coding_transcript_exon_variant",
      "transcript": "NR_030386.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.111+847T>G",
          "hgvs_p": null,
          "transcript": "ENST00000427348.5",
          "protein_id": null,
          "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": 1213,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 1,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MIR663A",
          "gene_hgnc_id": 32919,
          "hgvs_c": "n.3T>G",
          "hgvs_p": null,
          "transcript": "ENST00000385250.1",
          "protein_id": null,
          "transcript_support_level": 6,
          "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": 93,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 1,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MIR663A",
          "gene_hgnc_id": 32919,
          "hgvs_c": "n.3T>G",
          "hgvs_p": null,
          "transcript": "NR_030386.1",
          "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,
          "cdna_end": null,
          "cdna_length": 93,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.41+723T>G",
          "hgvs_p": null,
          "transcript": "ENST00000432499.6",
          "protein_id": null,
          "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": 1139,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.244-8753T>G",
          "hgvs_p": null,
          "transcript": "ENST00000594130.6",
          "protein_id": null,
          "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": 1238,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.74+887T>G",
          "hgvs_p": null,
          "transcript": "ENST00000594135.6",
          "protein_id": null,
          "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": 1281,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.118+871T>G",
          "hgvs_p": null,
          "transcript": "ENST00000594150.6",
          "protein_id": null,
          "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": 1341,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.102+1467T>G",
          "hgvs_p": null,
          "transcript": "ENST00000595300.2",
          "protein_id": null,
          "transcript_support_level": 6,
          "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": 1010,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.97+1467T>G",
          "hgvs_p": null,
          "transcript": "ENST00000596058.5",
          "protein_id": null,
          "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": 665,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.205-8753T>G",
          "hgvs_p": null,
          "transcript": "ENST00000596767.6",
          "protein_id": null,
          "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": 1450,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.108+723T>G",
          "hgvs_p": null,
          "transcript": "ENST00000597361.6",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1210,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.99+894T>G",
          "hgvs_p": null,
          "transcript": "ENST00000597979.6",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1201,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
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        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.75+973T>G",
          "hgvs_p": null,
          "transcript": "ENST00000598150.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_length": 751,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 4,
          "intron_rank": 1,
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          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.107+723T>G",
          "hgvs_p": null,
          "transcript": "ENST00000598451.6",
          "protein_id": null,
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          "cds_start": -4,
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          "cdna_length": 1132,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.94+988T>G",
          "hgvs_p": null,
          "transcript": "ENST00000600225.6",
          "protein_id": null,
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        {
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          "intron_rank": 1,
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          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.117+871T>G",
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          "transcript": "ENST00000600263.6",
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          "cdna_length": 1371,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.199+988T>G",
          "hgvs_p": null,
          "transcript": "ENST00000601079.6",
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          "aa_start": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.265-8753T>G",
          "hgvs_p": null,
          "transcript": "ENST00000601119.6",
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        {
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          ],
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          "intron_rank": 1,
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          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.244-16044T>G",
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        },
        {
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          "consequences": [
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          ],
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          "intron_rank": 1,
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          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.124+894T>G",
          "hgvs_p": null,
          "transcript": "ENST00000608084.5",
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR663AHG",
          "gene_hgnc_id": 27662,
          "hgvs_c": "n.115+871T>G",
          "hgvs_p": null,
          "transcript": "ENST00000608487.6",
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          "transcript_support_level": 5,
          "aa_start": null,
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          "cdna_start": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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      ],
      "gene_symbol": "MIR663A",
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      "dbsnp": "rs7266947",
      "frequency_reference_population": 0.0017602023,
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      "gnomad_exomes_af": 0.000137643,
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      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.6200000047683716,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.62,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.391,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -4,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
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          "verdict": "Likely_benign",
          "transcript": "NR_030386.1",
          "gene_symbol": "MIR663A",
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          "effects": [
            "non_coding_transcript_exon_variant"
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          "inheritance_mode": "",
          "hgvs_c": "n.3T>G",
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        },
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
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          "verdict": "Likely_benign",
          "transcript": "ENST00000427348.5",
          "gene_symbol": "MIR663AHG",
          "hgnc_id": 27662,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.111+847T>G",
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}