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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: 12-53714166-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53714166&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 53714166,
      "ref": "T",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_020898.3",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALCOCO1",
          "gene_hgnc_id": 29306,
          "hgvs_c": "c.1558A>C",
          "hgvs_p": "p.Thr520Pro",
          "transcript": "NM_020898.3",
          "protein_id": "NP_065949.1",
          "transcript_support_level": null,
          "aa_start": 520,
          "aa_end": null,
          "aa_length": 691,
          "cds_start": 1558,
          "cds_end": null,
          "cds_length": 2076,
          "cdna_start": 1631,
          "cdna_end": null,
          "cdna_length": 5576,
          "mane_select": "ENST00000550804.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_020898.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALCOCO1",
          "gene_hgnc_id": 29306,
          "hgvs_c": "c.1558A>C",
          "hgvs_p": "p.Thr520Pro",
          "transcript": "ENST00000550804.6",
          "protein_id": "ENSP00000449960.1",
          "transcript_support_level": 1,
          "aa_start": 520,
          "aa_end": null,
          "aa_length": 691,
          "cds_start": 1558,
          "cds_end": null,
          "cds_length": 2076,
          "cdna_start": 1631,
          "cdna_end": null,
          "cdna_length": 5576,
          "mane_select": "NM_020898.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000550804.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALCOCO1",
          "gene_hgnc_id": 29306,
          "hgvs_c": "c.1558A>C",
          "hgvs_p": "p.Thr520Pro",
          "transcript": "ENST00000548263.5",
          "protein_id": "ENSP00000447647.1",
          "transcript_support_level": 1,
          "aa_start": 520,
          "aa_end": null,
          "aa_length": 633,
          "cds_start": 1558,
          "cds_end": null,
          "cds_length": 1902,
          "cdna_start": 1607,
          "cdna_end": null,
          "cdna_length": 3888,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000548263.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALCOCO1",
          "gene_hgnc_id": 29306,
          "hgvs_c": "c.106A>C",
          "hgvs_p": "p.Thr36Pro",
          "transcript": "ENST00000546443.5",
          "protein_id": "ENSP00000456437.1",
          "transcript_support_level": 1,
          "aa_start": 36,
          "aa_end": null,
          "aa_length": 231,
          "cds_start": 106,
          "cds_end": null,
          "cds_length": 696,
          "cdna_start": 108,
          "cdna_end": null,
          "cdna_length": 1523,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000546443.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALCOCO1",
          "gene_hgnc_id": 29306,
          "hgvs_c": "c.1558A>C",
          "hgvs_p": "p.Thr520Pro",
          "transcript": "ENST00000943517.1",
          "protein_id": "ENSP00000613576.1",
          "transcript_support_level": null,
          "aa_start": 520,
          "aa_end": null,
          "aa_length": 710,
          "cds_start": 1558,
          "cds_end": null,
          "cds_length": 2133,
          "cdna_start": 1638,
          "cdna_end": null,
          "cdna_length": 3039,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000943517.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALCOCO1",
          "gene_hgnc_id": 29306,
          "hgvs_c": "c.1558A>C",
          "hgvs_p": "p.Thr520Pro",
          "transcript": "ENST00000943523.1",
          "protein_id": "ENSP00000613582.1",
          "transcript_support_level": null,
          "aa_start": 520,
          "aa_end": null,
          "aa_length": 701,
          "cds_start": 1558,
          "cds_end": null,
          "cds_length": 2106,
          "cdna_start": 1622,
          "cdna_end": null,
          "cdna_length": 2996,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000943523.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALCOCO1",
          "gene_hgnc_id": 29306,
          "hgvs_c": "c.1558A>C",
          "hgvs_p": "p.Thr520Pro",
          "transcript": "ENST00000943515.1",
          "protein_id": "ENSP00000613574.1",
          "transcript_support_level": null,
          "aa_start": 520,
          "aa_end": null,
          "aa_length": 693,
          "cds_start": 1558,
          "cds_end": null,
          "cds_length": 2082,
          "cdna_start": 1658,
          "cdna_end": null,
          "cdna_length": 3006,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000943515.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALCOCO1",
          "gene_hgnc_id": 29306,
          "hgvs_c": "c.1558A>C",
          "hgvs_p": "p.Thr520Pro",
          "transcript": "ENST00000886084.1",
          "protein_id": "ENSP00000556143.1",
          "transcript_support_level": null,
          "aa_start": 520,
          "aa_end": null,
          "aa_length": 691,
          "cds_start": 1558,
          "cds_end": null,
          "cds_length": 2076,
          "cdna_start": 1617,
          "cdna_end": null,
          "cdna_length": 2961,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886084.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "CALCOCO1",
          "gene_hgnc_id": 29306,
          "hgvs_c": "c.1558A>C",
          "hgvs_p": "p.Thr520Pro",
          "transcript": "ENST00000886090.1",
          "protein_id": "ENSP00000556149.1",
          "transcript_support_level": null,
          "aa_start": 520,
          "aa_end": null,
          "aa_length": 691,
          "cds_start": 1558,
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          "cds_length": 2076,
          "cdna_start": 1651,
          "cdna_end": null,
          "cdna_length": 2993,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886090.1"
        },
        {
          "aa_ref": "T",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "CALCOCO1",
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          "hgvs_c": "c.1558A>C",
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          "transcript": "ENST00000886096.1",
          "protein_id": "ENSP00000556155.1",
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        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 13,
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          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "CALCOCO1",
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          "hgvs_c": "c.1558A>C",
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          "transcript": "ENST00000886097.1",
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          "cds_start": 1558,
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        {
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        {
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        {
          "aa_ref": "T",
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          ],
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          "intron_rank": null,
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        {
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          "biotype": "protein_coding",
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        {
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          "gene_symbol": "CALCOCO1",
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          "hgvs_c": "c.1558A>C",
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          "transcript": "ENST00000943526.1",
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        {
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          "strand": false,
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          "gene_symbol": "CALCOCO1",
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        {
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        {
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000886085.1"
        },
        {
          "aa_ref": "T",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALCOCO1",
          "gene_hgnc_id": 29306,
          "hgvs_c": "c.1552A>C",
          "hgvs_p": "p.Thr518Pro",
          "transcript": "ENST00000886086.1",
          "protein_id": "ENSP00000556145.1",
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        },
        {
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          "protein_coding": false,
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          "consequences": [
            "non_coding_transcript_exon_variant"
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          "exon_rank": 11,
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          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "CALCOCO1",
          "gene_hgnc_id": 29306,
          "hgvs_c": "n.1528A>C",
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          "transcript": "NR_026554.2",
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          "cdna_length": 5473,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "NR_026554.2"
        }
      ],
      "gene_symbol": "CALCOCO1",
      "gene_hgnc_id": 29306,
      "dbsnp": "rs1945662274",
      "frequency_reference_population": 6.843615e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.84362e-7,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.10762625932693481,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.11999999731779099,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.073,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0694,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.51,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 2.363,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.12,
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_020898.3",
          "gene_symbol": "CALCOCO1",
          "hgnc_id": 29306,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.1558A>C",
          "hgvs_p": "p.Thr520Pro"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.