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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: 13-48679835-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=48679835&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "13",
      "pos": 48679835,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_020377.5",
      "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CYSLTR2",
          "gene_hgnc_id": 18274,
          "hgvs_c": "c.-265-11377A>G",
          "hgvs_p": null,
          "transcript": "NM_001308476.3",
          "protein_id": "NP_001295405.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 346,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1041,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000682523.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001308476.3"
        },
        {
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CYSLTR2",
          "gene_hgnc_id": 18274,
          "hgvs_c": "c.-265-11377A>G",
          "hgvs_p": null,
          "transcript": "ENST00000682523.1",
          "protein_id": "ENSP00000508181.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 346,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1041,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001308476.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000682523.1"
        },
        {
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CYSLTR2",
          "gene_hgnc_id": 18274,
          "hgvs_c": "c.-242-11377A>G",
          "hgvs_p": null,
          "transcript": "ENST00000614739.4",
          "protein_id": "ENSP00000477930.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 346,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1041,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000614739.4"
        },
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CYSLTR2",
          "gene_hgnc_id": 18274,
          "hgvs_c": "c.-371-11377A>G",
          "hgvs_p": null,
          "transcript": "ENST00000617562.4",
          "protein_id": "ENSP00000482041.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 13,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 44,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000617562.4"
        },
        {
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CYSLTR2",
          "gene_hgnc_id": 18274,
          "hgvs_c": "c.-2+25818A>G",
          "hgvs_p": null,
          "transcript": "ENST00000621321.1",
          "protein_id": "ENSP00000482031.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 13,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 44,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000621321.1"
        },
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CYSLTR2",
          "gene_hgnc_id": 18274,
          "hgvs_c": "c.-394-11377A>G",
          "hgvs_p": null,
          "transcript": "ENST00000622559.4",
          "protein_id": "ENSP00000479446.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 13,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 44,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000622559.4"
        },
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CYSLTR2",
          "gene_hgnc_id": 18274,
          "hgvs_c": "c.-394-11377A>G",
          "hgvs_p": null,
          "transcript": "NM_001308465.3",
          "protein_id": "NP_001295394.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 346,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1041,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001308465.3"
        },
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CYSLTR2",
          "gene_hgnc_id": 18274,
          "hgvs_c": "c.-371-11377A>G",
          "hgvs_p": null,
          "transcript": "NM_001308467.3",
          "protein_id": "NP_001295396.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 346,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1041,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001308467.3"
        },
        {
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CYSLTR2",
          "gene_hgnc_id": 18274,
          "hgvs_c": "c.-192-11377A>G",
          "hgvs_p": null,
          "transcript": "NM_001308468.3",
          "protein_id": "NP_001295397.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 346,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1041,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001308468.3"
        },
        {
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CYSLTR2",
          "gene_hgnc_id": 18274,
          "hgvs_c": "c.-169-11377A>G",
          "hgvs_p": null,
          "transcript": "NM_001308469.3",
          "protein_id": "NP_001295398.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 346,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1041,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001308469.3"
        },
        {
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CYSLTR2",
          "gene_hgnc_id": 18274,
          "hgvs_c": "c.-102-16691A>G",
          "hgvs_p": null,
          "transcript": "NM_001308470.3",
          "protein_id": "NP_001295399.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 346,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1041,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001308470.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CYSLTR2",
          "gene_hgnc_id": 18274,
          "hgvs_c": "c.-2+25818A>G",
          "hgvs_p": null,
          "transcript": "NM_001308471.3",
          "protein_id": "NP_001295400.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 346,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001308471.3"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          ],
          "exon_rank": null,
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          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CYSLTR2",
          "gene_hgnc_id": 18274,
          "hgvs_c": "c.-141-11377A>G",
          "hgvs_p": null,
          "transcript": "NM_001387012.1",
          "protein_id": "NP_001373941.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_001387012.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CYSLTR2",
          "gene_hgnc_id": 18274,
          "hgvs_c": "c.-175-13603A>G",
          "hgvs_p": null,
          "transcript": "NM_001387013.1",
          "protein_id": "NP_001373942.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_001387013.1"
        },
        {
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          "gene_symbol": "CYSLTR2",
          "gene_hgnc_id": 18274,
          "hgvs_c": "c.-298-11377A>G",
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          "transcript": "NM_001387014.1",
          "protein_id": "NP_001373943.1",
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          "biotype": "protein_coding",
          "feature": "NM_001387014.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CYSLTR2",
          "gene_hgnc_id": 18274,
          "hgvs_c": "c.-242-11377A>G",
          "hgvs_p": null,
          "transcript": "NM_020377.5",
          "protein_id": "NP_065110.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_020377.5"
        },
        {
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          "strand": true,
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          ],
          "exon_rank": null,
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          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CYSLTR2",
          "gene_hgnc_id": 18274,
          "hgvs_c": "c.-102-16691A>G",
          "hgvs_p": null,
          "transcript": "ENST00000859943.1",
          "protein_id": "ENSP00000530002.1",
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        {
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          ],
          "exon_rank": null,
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          "intron_rank": 1,
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          "hgvs_c": "c.-299-6191A>G",
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          "transcript": "ENST00000859944.1",
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        {
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          ],
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          "gene_symbol": "CYSLTR2",
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          "hgvs_c": "c.-192-11377A>G",
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          "transcript": "ENST00000859945.1",
          "protein_id": "ENSP00000530004.1",
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        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CYSLTR2",
          "gene_hgnc_id": 18274,
          "hgvs_c": "c.-169-11377A>G",
          "hgvs_p": null,
          "transcript": "ENST00000859946.1",
          "protein_id": "ENSP00000530005.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000859946.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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      ],
      "gene_symbol": "CYSLTR2",
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      "dbsnp": "rs9595961",
      "frequency_reference_population": 0.53373384,
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      "gnomad_exomes_af": null,
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      "gnomad_genomes_ac": 81024,
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      "gnomad_genomes_homalt": 21872,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.9800000190734863,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": null,
      "splice_prediction_selected": null,
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      "revel_score": null,
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      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.98,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.28,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
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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,
          "criteria": [
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            "BA1"
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          "verdict": "Benign",
          "transcript": "NM_020377.5",
          "gene_symbol": "CYSLTR2",
          "hgnc_id": 18274,
          "effects": [
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          "inheritance_mode": "AR",
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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
}