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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: 9-94760130-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=94760130&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 94760130,
      "ref": "A",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_001193329.3",
      "consequences": [
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AOPEP",
          "gene_hgnc_id": 1361,
          "hgvs_c": "c.347A>G",
          "hgvs_p": "p.His116Arg",
          "transcript": "NM_001193329.3",
          "protein_id": "NP_001180258.1",
          "transcript_support_level": null,
          "aa_start": 116,
          "aa_end": null,
          "aa_length": 819,
          "cds_start": 347,
          "cds_end": null,
          "cds_length": 2460,
          "cdna_start": 535,
          "cdna_end": null,
          "cdna_length": 3130,
          "mane_select": "ENST00000375315.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AOPEP",
          "gene_hgnc_id": 1361,
          "hgvs_c": "c.347A>G",
          "hgvs_p": "p.His116Arg",
          "transcript": "ENST00000375315.8",
          "protein_id": "ENSP00000364464.2",
          "transcript_support_level": 1,
          "aa_start": 116,
          "aa_end": null,
          "aa_length": 819,
          "cds_start": 347,
          "cds_end": null,
          "cds_length": 2460,
          "cdna_start": 535,
          "cdna_end": null,
          "cdna_length": 3130,
          "mane_select": "NM_001193329.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AOPEP",
          "gene_hgnc_id": 1361,
          "hgvs_c": "c.347A>G",
          "hgvs_p": "p.His116Arg",
          "transcript": "ENST00000297979.9",
          "protein_id": "ENSP00000297979.5",
          "transcript_support_level": 1,
          "aa_start": 116,
          "aa_end": null,
          "aa_length": 720,
          "cds_start": 347,
          "cds_end": null,
          "cds_length": 2163,
          "cdna_start": 522,
          "cdna_end": null,
          "cdna_length": 2820,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AOPEP",
          "gene_hgnc_id": 1361,
          "hgvs_c": "c.347A>G",
          "hgvs_p": "p.His116Arg",
          "transcript": "NM_001386066.1",
          "protein_id": "NP_001372995.1",
          "transcript_support_level": null,
          "aa_start": 116,
          "aa_end": null,
          "aa_length": 859,
          "cds_start": 347,
          "cds_end": null,
          "cds_length": 2580,
          "cdna_start": 535,
          "cdna_end": null,
          "cdna_length": 2985,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AOPEP",
          "gene_hgnc_id": 1361,
          "hgvs_c": "c.347A>G",
          "hgvs_p": "p.His116Arg",
          "transcript": "NM_001386068.1",
          "protein_id": "NP_001372997.1",
          "transcript_support_level": null,
          "aa_start": 116,
          "aa_end": null,
          "aa_length": 859,
          "cds_start": 347,
          "cds_end": null,
          "cds_length": 2580,
          "cdna_start": 716,
          "cdna_end": null,
          "cdna_length": 3166,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AOPEP",
          "gene_hgnc_id": 1361,
          "hgvs_c": "c.347A>G",
          "hgvs_p": "p.His116Arg",
          "transcript": "NM_001386070.1",
          "protein_id": "NP_001372999.1",
          "transcript_support_level": null,
          "aa_start": 116,
          "aa_end": null,
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          "cds_start": 347,
          "cds_end": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "AOPEP",
          "gene_hgnc_id": 1361,
          "hgvs_c": "c.347A>G",
          "hgvs_p": "p.His116Arg",
          "transcript": "NM_001386075.1",
          "protein_id": "NP_001373004.1",
          "transcript_support_level": null,
          "aa_start": 116,
          "aa_end": null,
          "aa_length": 819,
          "cds_start": 347,
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          "cds_length": 2460,
          "cdna_start": 535,
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          "cdna_length": 4268,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "AOPEP",
          "gene_hgnc_id": 1361,
          "hgvs_c": "c.347A>G",
          "hgvs_p": "p.His116Arg",
          "transcript": "NM_001386074.1",
          "protein_id": "NP_001373003.1",
          "transcript_support_level": null,
          "aa_start": 116,
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          "cds_start": 347,
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          "cdna_start": 535,
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          "mane_select": null,
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        },
        {
          "aa_ref": "H",
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          "hgvs_c": "c.347A>G",
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      "dbsnp": "rs1837920795",
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      "gnomad_exomes_af": 0.000014365,
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      "computational_score_selected": 0.3803284466266632,
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      "computational_source_selected": "MetaRNN",
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      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.125,
      "revel_prediction": "Benign",
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      "bayesdelnoaf_score": -0.23,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 3.86,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": 1,
      "acmg_classification": "Uncertain_significance",
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      "acmg_by_gene": [
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          "verdict": "Uncertain_significance",
          "transcript": "NM_001193329.3",
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          "hgvs_p": "p.His116Arg"
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      "clinvar_disease": "Inborn genetic diseases",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Inborn genetic diseases",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
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  ],
  "message": null
}