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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: 6-83600212-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=83600212&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 83600212,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_014841.3",
      "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": 30,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "SNAP91",
          "gene_hgnc_id": 14986,
          "hgvs_c": "c.1324+1059T>C",
          "hgvs_p": null,
          "transcript": "NM_001242792.2",
          "protein_id": "NP_001229721.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 907,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2724,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000369694.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001242792.2"
        },
        {
          "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": 30,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "SNAP91",
          "gene_hgnc_id": 14986,
          "hgvs_c": "c.1324+1059T>C",
          "hgvs_p": null,
          "transcript": "ENST00000369694.7",
          "protein_id": "ENSP00000358708.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 907,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2724,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001242792.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000369694.7"
        },
        {
          "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": 28,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "SNAP91",
          "gene_hgnc_id": 14986,
          "hgvs_c": "c.1318+1059T>C",
          "hgvs_p": null,
          "transcript": "ENST00000520302.5",
          "protein_id": "ENSP00000428511.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 877,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2634,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000520302.5"
        },
        {
          "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": 20,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "SNAP91",
          "gene_hgnc_id": 14986,
          "hgvs_c": "c.1093+5473T>C",
          "hgvs_p": null,
          "transcript": "ENST00000520213.5",
          "protein_id": "ENSP00000428026.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 600,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1803,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000520213.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "SNAP91",
          "gene_hgnc_id": 14986,
          "hgvs_c": "n.*1577+1059T>C",
          "hgvs_p": null,
          "transcript": "ENST00000518312.5",
          "protein_id": "ENSP00000429937.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000518312.5"
        },
        {
          "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": 30,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "SNAP91",
          "gene_hgnc_id": 14986,
          "hgvs_c": "c.1324+1059T>C",
          "hgvs_p": null,
          "transcript": "NM_014841.3",
          "protein_id": "NP_055656.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 907,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2724,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_014841.3"
        },
        {
          "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": 30,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "SNAP91",
          "gene_hgnc_id": 14986,
          "hgvs_c": "c.1324+1059T>C",
          "hgvs_p": null,
          "transcript": "ENST00000439399.6",
          "protein_id": "ENSP00000400459.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 907,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2724,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000439399.6"
        },
        {
          "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": 30,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "SNAP91",
          "gene_hgnc_id": 14986,
          "hgvs_c": "c.1324+1059T>C",
          "hgvs_p": null,
          "transcript": "ENST00000521743.5",
          "protein_id": "ENSP00000428215.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 907,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2724,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000521743.5"
        },
        {
          "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": 29,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "SNAP91",
          "gene_hgnc_id": 14986,
          "hgvs_c": "c.1318+1059T>C",
          "hgvs_p": null,
          "transcript": "NM_001376675.1",
          "protein_id": "NP_001363604.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 905,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2718,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001376675.1"
        },
        {
          "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": 29,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "SNAP91",
          "gene_hgnc_id": 14986,
          "hgvs_c": "c.1318+1059T>C",
          "hgvs_p": null,
          "transcript": "NM_001376676.1",
          "protein_id": "NP_001363605.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 905,
          "cds_start": null,
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          "cds_length": 2718,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 15,
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          "gene_symbol": "SNAP91",
          "gene_hgnc_id": 14986,
          "hgvs_c": "c.1318+1059T>C",
          "hgvs_p": null,
          "transcript": "NM_001376677.1",
          "protein_id": "NP_001363606.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 905,
          "cds_start": null,
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          "cdna_start": null,
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          "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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          "gene_symbol": "SNAP91",
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        {
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          "gene_symbol": "SNAP91",
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          "protein_id": "NP_001363608.1",
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        {
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          "gene_symbol": "SNAP91",
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          "hgvs_c": "c.1318+1059T>C",
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          "transcript": "NM_001376680.1",
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        {
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        {
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          "gene_symbol": "SNAP91",
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          "transcript": "NM_001376682.1",
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          "gene_symbol": "SNAP91",
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          "hgvs_c": "c.1318+1059T>C",
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          "transcript": "ENST00000948470.1",
          "protein_id": "ENSP00000618529.1",
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        {
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          "intron_rank_end": null,
          "gene_symbol": "SNAP91",
          "gene_hgnc_id": 14986,
          "hgvs_c": "c.1324+1059T>C",
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          "transcript": "NM_001363677.2",
          "protein_id": "NP_001350606.1",
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          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "NR_164845.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "SNAP91",
          "gene_hgnc_id": 14986,
          "hgvs_c": "n.1456+1059T>C",
          "hgvs_p": null,
          "transcript": "NR_164846.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "NR_164846.1"
        }
      ],
      "gene_symbol": "SNAP91",
      "gene_hgnc_id": 14986,
      "dbsnp": "rs9294279",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 0,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8899999856948853,
      "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": -0.89,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.494,
      "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": -4,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_014841.3",
          "gene_symbol": "SNAP91",
          "hgnc_id": 14986,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.1324+1059T>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}