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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: 15-89301457-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89301457&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 89301457,
      "ref": "A",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001113378.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.3006+15A>C",
          "hgvs_p": null,
          "transcript": "NM_001113378.2",
          "protein_id": "NP_001106849.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1328,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3987,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000310775.12",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001113378.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.3006+15A>C",
          "hgvs_p": null,
          "transcript": "ENST00000310775.12",
          "protein_id": "ENSP00000310842.8",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1328,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3987,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001113378.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000310775.12"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.3006+15A>C",
          "hgvs_p": null,
          "transcript": "ENST00000674831.1",
          "protein_id": "ENSP00000502474.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1372,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4119,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674831.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.3030+15A>C",
          "hgvs_p": null,
          "transcript": "ENST00000940814.1",
          "protein_id": "ENSP00000610873.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1336,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4011,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940814.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.3006+15A>C",
          "hgvs_p": null,
          "transcript": "NM_001376911.1",
          "protein_id": "NP_001363840.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1328,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3987,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001376911.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.3006+15A>C",
          "hgvs_p": null,
          "transcript": "ENST00000696719.1",
          "protein_id": "ENSP00000512832.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1328,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3987,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000696719.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.3006+15A>C",
          "hgvs_p": null,
          "transcript": "ENST00000886451.1",
          "protein_id": "ENSP00000556509.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1328,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3987,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886451.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.3006+15A>C",
          "hgvs_p": null,
          "transcript": "ENST00000886459.1",
          "protein_id": "ENSP00000556518.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1328,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3987,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886459.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.3006+15A>C",
          "hgvs_p": null,
          "transcript": "ENST00000886461.1",
          "protein_id": "ENSP00000556520.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1328,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3987,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886461.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.3006+15A>C",
          "hgvs_p": null,
          "transcript": "ENST00000886463.1",
          "protein_id": "ENSP00000556522.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1328,
          "cds_start": null,
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          "cds_length": 3987,
          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "exon_count": 38,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.3006+15A>C",
          "hgvs_p": null,
          "transcript": "ENST00000940788.1",
          "protein_id": "ENSP00000610847.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1328,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "FANCI",
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          "transcript_support_level": null,
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          "cdna_start": null,
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        {
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          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
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        {
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          "exon_rank": null,
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          "gene_symbol": "FANCI",
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          "hgvs_p": null,
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          "protein_id": "ENSP00000610853.1",
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        {
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          "gene_symbol": "FANCI",
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          "gene_symbol": "FANCI",
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          "protein_id": "ENSP00000610857.1",
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        {
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          ],
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          "intron_rank_end": null,
          "gene_symbol": "FANCI",
          "gene_hgnc_id": 25568,
          "hgvs_c": "c.3006+15A>C",
          "hgvs_p": null,
          "transcript": "ENST00000940809.1",
          "protein_id": "ENSP00000610868.1",
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      "gene_symbol": "FANCI",
      "gene_hgnc_id": 25568,
      "dbsnp": "rs2159081",
      "frequency_reference_population": 0.3896181,
      "hom_count_reference_population": 116651,
      "allele_count_reference_population": 594611,
      "gnomad_exomes_af": 0.390793,
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      "gnomad_exomes_ac": 537004,
      "gnomad_genomes_ac": 57607,
      "gnomad_exomes_homalt": 105565,
      "gnomad_genomes_homalt": 11086,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.9200000166893005,
      "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": -0.92,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.079,
      "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": -20,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -20,
          "benign_score": 20,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_001113378.2",
          "gene_symbol": "FANCI",
          "hgnc_id": 25568,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.3006+15A>C",
          "hgvs_p": null
        },
        {
          "score": -20,
          "benign_score": 20,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "XR_007064749.1",
          "gene_symbol": "LOC124903548",
          "hgnc_id": null,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.417T>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Fanconi anemia,Fanconi anemia complementation group I,not provided,not specified",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:8",
      "phenotype_combined": "not specified|Fanconi anemia complementation group I|Fanconi anemia|not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}