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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: 1-31021628-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=31021628&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 31021628,
      "ref": "T",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_001020658.2",
      "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PUM1",
          "gene_hgnc_id": 14957,
          "hgvs_c": "c.432+7168A>C",
          "hgvs_p": null,
          "transcript": "NM_001020658.2",
          "protein_id": "NP_001018494.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1188,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3567,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000426105.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001020658.2"
        },
        {
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PUM1",
          "gene_hgnc_id": 14957,
          "hgvs_c": "c.432+7168A>C",
          "hgvs_p": null,
          "transcript": "ENST00000426105.7",
          "protein_id": "ENSP00000391723.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1188,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3567,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001020658.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000426105.7"
        },
        {
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PUM1",
          "gene_hgnc_id": 14957,
          "hgvs_c": "c.540+7168A>C",
          "hgvs_p": null,
          "transcript": "ENST00000373741.8",
          "protein_id": "ENSP00000362846.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1224,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3675,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000373741.8"
        },
        {
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PUM1",
          "gene_hgnc_id": 14957,
          "hgvs_c": "c.432+7168A>C",
          "hgvs_p": null,
          "transcript": "ENST00000257075.9",
          "protein_id": "ENSP00000257075.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1186,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3561,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000257075.9"
        },
        {
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PUM1",
          "gene_hgnc_id": 14957,
          "hgvs_c": "c.432+7168A>C",
          "hgvs_p": null,
          "transcript": "ENST00000440538.6",
          "protein_id": "ENSP00000401777.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1162,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3489,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000440538.6"
        },
        {
          "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": 24,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PUM1",
          "gene_hgnc_id": 14957,
          "hgvs_c": "c.432+7168A>C",
          "hgvs_p": null,
          "transcript": "ENST00000883126.1",
          "protein_id": "ENSP00000553185.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1250,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3753,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883126.1"
        },
        {
          "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": 24,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PUM1",
          "gene_hgnc_id": 14957,
          "hgvs_c": "c.432+7168A>C",
          "hgvs_p": null,
          "transcript": "ENST00000883151.1",
          "protein_id": "ENSP00000553210.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1250,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3753,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883151.1"
        },
        {
          "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": 23,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PUM1",
          "gene_hgnc_id": 14957,
          "hgvs_c": "c.432+7168A>C",
          "hgvs_p": null,
          "transcript": "ENST00000963563.1",
          "protein_id": "ENSP00000633622.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1232,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3699,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963563.1"
        },
        {
          "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": 23,
          "intron_rank": 3,
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          "gene_symbol": "PUM1",
          "gene_hgnc_id": 14957,
          "hgvs_c": "c.432+7168A>C",
          "hgvs_p": null,
          "transcript": "ENST00000883144.1",
          "protein_id": "ENSP00000553203.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1230,
          "cds_start": null,
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          "cds_length": 3693,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "exon_rank": null,
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          "exon_count": 23,
          "intron_rank": 3,
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          "gene_symbol": "PUM1",
          "gene_hgnc_id": 14957,
          "hgvs_c": "c.432+7168A>C",
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          "transcript": "ENST00000883086.1",
          "protein_id": "ENSP00000553145.1",
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          "cds_start": null,
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        {
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          "protein_id": "ENSP00000553161.1",
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          "cds_start": null,
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          "gene_symbol": "PUM1",
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          "gene_symbol": "PUM1",
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      "gnomad_exomes_af": null,
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      "gnomad_genomes_ac": 42691,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 7709,
      "gnomad_mito_homoplasmic": null,
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      "computational_score_selected": -0.8999999761581421,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.9,
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      "phylop100way_score": -0.547,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
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          "verdict": "Benign",
          "transcript": "NM_001020658.2",
          "gene_symbol": "PUM1",
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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
}