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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: 2-85556642-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85556642&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 85556642,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_000821.7",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GGCX",
          "gene_hgnc_id": 4247,
          "hgvs_c": "c.540-382C>G",
          "hgvs_p": null,
          "transcript": "NM_000821.7",
          "protein_id": "NP_000812.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 758,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2277,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7556,
          "mane_select": "ENST00000233838.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000821.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GGCX",
          "gene_hgnc_id": 4247,
          "hgvs_c": "c.540-382C>G",
          "hgvs_p": null,
          "transcript": "ENST00000233838.9",
          "protein_id": "ENSP00000233838.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 758,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2277,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7556,
          "mane_select": "NM_000821.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000233838.9"
        },
        {
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "GGCX",
          "gene_hgnc_id": 4247,
          "hgvs_c": "n.514-382C>G",
          "hgvs_p": null,
          "transcript": "ENST00000423570.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1339,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000423570.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GGCX",
          "gene_hgnc_id": 4247,
          "hgvs_c": "c.540-382C>G",
          "hgvs_p": null,
          "transcript": "ENST00000911478.1",
          "protein_id": "ENSP00000581537.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 768,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2307,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6364,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911478.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GGCX",
          "gene_hgnc_id": 4247,
          "hgvs_c": "c.540-382C>G",
          "hgvs_p": null,
          "transcript": "ENST00000896458.1",
          "protein_id": "ENSP00000566517.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 756,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2271,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3982,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896458.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GGCX",
          "gene_hgnc_id": 4247,
          "hgvs_c": "c.540-382C>G",
          "hgvs_p": null,
          "transcript": "ENST00000942085.1",
          "protein_id": "ENSP00000612144.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2868,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942085.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GGCX",
          "gene_hgnc_id": 4247,
          "hgvs_c": "c.471-382C>G",
          "hgvs_p": null,
          "transcript": "ENST00000689276.1",
          "protein_id": "ENSP00000510012.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 735,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2208,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3068,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000689276.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GGCX",
          "gene_hgnc_id": 4247,
          "hgvs_c": "c.540-382C>G",
          "hgvs_p": null,
          "transcript": "ENST00000896463.1",
          "protein_id": "ENSP00000566522.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 735,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2208,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2642,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896463.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GGCX",
          "gene_hgnc_id": 4247,
          "hgvs_c": "c.540-382C>G",
          "hgvs_p": null,
          "transcript": "ENST00000942081.1",
          "protein_id": "ENSP00000612140.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 712,
          "cds_start": null,
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          "cds_length": 2139,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3097,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942081.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 14,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GGCX",
          "gene_hgnc_id": 4247,
          "hgvs_c": "c.369-382C>G",
          "hgvs_p": null,
          "transcript": "ENST00000896461.1",
          "protein_id": "ENSP00000566520.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 705,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": 2734,
          "mane_select": null,
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        {
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          "consequences": [
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          "gene_symbol": "GGCX",
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          "hgvs_c": "c.369-382C>G",
          "hgvs_p": null,
          "transcript": "NM_001142269.4",
          "protein_id": "NP_001135741.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 701,
          "cds_start": null,
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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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        {
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          "gene_symbol": "GGCX",
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          "hgvs_c": "c.369-382C>G",
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          "gene_symbol": "GGCX",
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          "gene_symbol": "GGCX",
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          "transcript": "ENST00000942084.1",
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        {
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          "gene_symbol": "GGCX",
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          "hgvs_c": "c.-66-1052C>G",
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          "transcript": "ENST00000693287.1",
          "protein_id": "ENSP00000510264.1",
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          "mane_select": null,
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        {
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      "computational_score_selected": -1.0099999904632568,
      "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": -1.01,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.898,
      "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": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_000821.7",
          "gene_symbol": "GGCX",
          "hgnc_id": 4247,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.540-382C>G",
          "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
}
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