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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: 3-195867585-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=195867585&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 195867585,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000672887.2",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2713G>T",
          "hgvs_p": "p.Val905Leu",
          "transcript": "NM_001382273.1",
          "protein_id": "NP_001369202.1",
          "transcript_support_level": null,
          "aa_start": 905,
          "aa_end": null,
          "aa_length": 1055,
          "cds_start": 2713,
          "cds_end": null,
          "cds_length": 3168,
          "cdna_start": 2798,
          "cdna_end": null,
          "cdna_length": 4070,
          "mane_select": "ENST00000672887.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2713G>T",
          "hgvs_p": "p.Val905Leu",
          "transcript": "ENST00000672887.2",
          "protein_id": "ENSP00000499899.1",
          "transcript_support_level": null,
          "aa_start": 905,
          "aa_end": null,
          "aa_length": 1055,
          "cds_start": 2713,
          "cds_end": null,
          "cds_length": 3168,
          "cdna_start": 2798,
          "cdna_end": null,
          "cdna_length": 4070,
          "mane_select": "NM_001382273.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2764G>T",
          "hgvs_p": "p.Val922Leu",
          "transcript": "ENST00000428187.7",
          "protein_id": "ENSP00000392546.1",
          "transcript_support_level": 1,
          "aa_start": 922,
          "aa_end": null,
          "aa_length": 1040,
          "cds_start": 2764,
          "cds_end": null,
          "cds_length": 3123,
          "cdna_start": 3060,
          "cdna_end": null,
          "cdna_length": 4235,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2668G>T",
          "hgvs_p": "p.Val890Leu",
          "transcript": "ENST00000333602.14",
          "protein_id": "ENSP00000329425.6",
          "transcript_support_level": 1,
          "aa_start": 890,
          "aa_end": null,
          "aa_length": 1038,
          "cds_start": 2668,
          "cds_end": null,
          "cds_length": 3117,
          "cdna_start": 4004,
          "cdna_end": null,
          "cdna_length": 5270,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2809G>T",
          "hgvs_p": "p.Val937Leu",
          "transcript": "NM_001387707.1",
          "protein_id": "NP_001374636.1",
          "transcript_support_level": null,
          "aa_start": 937,
          "aa_end": null,
          "aa_length": 1087,
          "cds_start": 2809,
          "cds_end": null,
          "cds_length": 3264,
          "cdna_start": 3065,
          "cdna_end": null,
          "cdna_length": 4337,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2902G>T",
          "hgvs_p": "p.Val968Leu",
          "transcript": "ENST00000381916.7",
          "protein_id": "ENSP00000371341.2",
          "transcript_support_level": 2,
          "aa_start": 968,
          "aa_end": null,
          "aa_length": 1086,
          "cds_start": 2902,
          "cds_end": null,
          "cds_length": 3261,
          "cdna_start": 3047,
          "cdna_end": null,
          "cdna_length": 4222,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2785G>T",
          "hgvs_p": "p.Val929Leu",
          "transcript": "NM_001382272.1",
          "protein_id": "NP_001369201.1",
          "transcript_support_level": null,
          "aa_start": 929,
          "aa_end": null,
          "aa_length": 1079,
          "cds_start": 2785,
          "cds_end": null,
          "cds_length": 3240,
          "cdna_start": 2834,
          "cdna_end": null,
          "cdna_length": 4106,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2764G>T",
          "hgvs_p": "p.Val922Leu",
          "transcript": "NM_001382271.1",
          "protein_id": "NP_001369200.1",
          "transcript_support_level": null,
          "aa_start": 922,
          "aa_end": null,
          "aa_length": 1072,
          "cds_start": 2764,
          "cds_end": null,
          "cds_length": 3219,
          "cdna_start": 3020,
          "cdna_end": null,
          "cdna_length": 4292,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2764G>T",
          "hgvs_p": "p.Val922Leu",
          "transcript": "ENST00000673038.1",
          "protein_id": "ENSP00000500452.1",
          "transcript_support_level": null,
          "aa_start": 922,
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          "aa_length": 1072,
          "cds_start": 2764,
          "cds_end": null,
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          "cdna_start": 3004,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
          "aa_ref": "V",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2764G>T",
          "hgvs_p": "p.Val922Leu",
          "transcript": "ENST00000678220.1",
          "protein_id": "ENSP00000503221.1",
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          "aa_end": null,
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          "cds_start": 2764,
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        {
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          "intron_rank": null,
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          "gene_symbol": "TNK2",
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          "hgvs_c": "c.2740G>T",
          "hgvs_p": "p.Val914Leu",
          "transcript": "NM_001387708.1",
          "protein_id": "NP_001374637.1",
          "transcript_support_level": null,
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          "cds_start": 2740,
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          "mane_select": null,
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        {
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          "gene_symbol": "TNK2",
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        {
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          "gene_symbol": "TNK2",
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          "gene_symbol": "TNK2",
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          "transcript": "NM_001387711.1",
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        },
        {
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          "consequences": [
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          ],
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      "computational_score_selected": 0.1093032956123352,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.049,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0841,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.39,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.866,
      "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": 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": "ENST00000672887.2",
          "gene_symbol": "TNK2",
          "hgnc_id": 19297,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2713G>T",
          "hgvs_p": "p.Val905Leu"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}