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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: 1-66580443-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=66580443&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 66580443,
      "ref": "C",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_001350217.2",
      "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": 25,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SGIP1",
          "gene_hgnc_id": 25412,
          "hgvs_c": "c.11-45404C>A",
          "hgvs_p": null,
          "transcript": "NM_032291.4",
          "protein_id": "NP_115667.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 828,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2487,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000371037.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_032291.4"
        },
        {
          "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": 25,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SGIP1",
          "gene_hgnc_id": 25412,
          "hgvs_c": "c.11-45404C>A",
          "hgvs_p": null,
          "transcript": "ENST00000371037.9",
          "protein_id": "ENSP00000360076.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 828,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2487,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_032291.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371037.9"
        },
        {
          "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": 22,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SGIP1",
          "gene_hgnc_id": 25412,
          "hgvs_c": "c.11-45404C>A",
          "hgvs_p": null,
          "transcript": "ENST00000371039.5",
          "protein_id": "ENSP00000360078.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 631,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1896,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371039.5"
        },
        {
          "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": 27,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SGIP1",
          "gene_hgnc_id": 25412,
          "hgvs_c": "c.11-45404C>A",
          "hgvs_p": null,
          "transcript": "ENST00000237247.10",
          "protein_id": "ENSP00000237247.6",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 859,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2580,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000237247.10"
        },
        {
          "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": 26,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SGIP1",
          "gene_hgnc_id": 25412,
          "hgvs_c": "c.11-45404C>A",
          "hgvs_p": null,
          "transcript": "ENST00000684651.1",
          "protein_id": "ENSP00000507629.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 855,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2568,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000684651.1"
        },
        {
          "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": 25,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SGIP1",
          "gene_hgnc_id": 25412,
          "hgvs_c": "c.11-45404C>A",
          "hgvs_p": null,
          "transcript": "NM_001350217.2",
          "protein_id": "NP_001337146.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 832,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2499,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350217.2"
        },
        {
          "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": 25,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SGIP1",
          "gene_hgnc_id": 25412,
          "hgvs_c": "c.11-45404C>A",
          "hgvs_p": null,
          "transcript": "ENST00000941752.1",
          "protein_id": "ENSP00000611811.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 832,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2499,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000941752.1"
        },
        {
          "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": 26,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SGIP1",
          "gene_hgnc_id": 25412,
          "hgvs_c": "c.11-45404C>A",
          "hgvs_p": null,
          "transcript": "NM_001376534.1",
          "protein_id": "NP_001363463.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 828,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2487,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001376534.1"
        },
        {
          "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": 26,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SGIP1",
          "gene_hgnc_id": 25412,
          "hgvs_c": "c.11-45404C>A",
          "hgvs_p": null,
          "transcript": "NM_001376535.1",
          "protein_id": "NP_001363464.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 828,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2487,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001376535.1"
        },
        {
          "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": 25,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SGIP1",
          "gene_hgnc_id": 25412,
          "hgvs_c": "c.11-45404C>A",
          "hgvs_p": null,
          "transcript": "NM_001376537.1",
          "protein_id": "NP_001363466.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 826,
          "cds_start": null,
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          "cds_length": 2481,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001376537.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SGIP1",
          "gene_hgnc_id": 25412,
          "hgvs_c": "c.11-45404C>A",
          "hgvs_p": null,
          "transcript": "ENST00000683499.1",
          "protein_id": "ENSP00000506830.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 820,
          "cds_start": null,
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          "cds_length": 2463,
          "cdna_start": null,
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          "mane_select": null,
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        {
          "aa_ref": null,
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          "canonical": false,
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          "gene_symbol": "SGIP1",
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          "cds_start": null,
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          "biotype": "protein_coding",
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        {
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          "strand": true,
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          "gene_symbol": "SGIP1",
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          "hgvs_c": "c.11-45404C>A",
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          "protein_id": "NP_001363468.1",
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        {
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          "intron_rank": 1,
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          "gene_symbol": "SGIP1",
          "gene_hgnc_id": 25412,
          "hgvs_c": "c.11-45404C>A",
          "hgvs_p": null,
          "transcript": "NM_001376540.1",
          "protein_id": "NP_001363469.1",
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        {
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        {
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          ],
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          "intron_rank": 2,
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          "gene_symbol": "SGIP1",
          "gene_hgnc_id": 25412,
          "hgvs_c": "c.11-45404C>A",
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          "transcript": "NM_001376541.1",
          "protein_id": "NP_001363470.1",
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        {
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          "gene_symbol": "SGIP1",
          "gene_hgnc_id": 25412,
          "hgvs_c": "c.11-45404C>A",
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          "transcript": "NM_001376542.1",
          "protein_id": "NP_001363471.1",
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        {
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        {
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          ],
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          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SGIP1",
          "gene_hgnc_id": 25412,
          "hgvs_c": "c.11-45404C>A",
          "hgvs_p": null,
          "transcript": "ENST00000941748.1",
          "protein_id": "ENSP00000611807.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_length": 2403,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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      "gene_symbol": "SGIP1",
      "gene_hgnc_id": 25412,
      "dbsnp": "rs1867631",
      "frequency_reference_population": 0.3747219,
      "hom_count_reference_population": 11433,
      "allele_count_reference_population": 56930,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.374722,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 56930,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 11433,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8500000238418579,
      "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": -0.85,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.065,
      "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": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_001350217.2",
          "gene_symbol": "SGIP1",
          "hgnc_id": 25412,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.11-45404C>A",
          "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
}