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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: 22-26483980-GGAGGCGGCGCCCCGGGGGAGA-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=26483980&ref=GGAGGCGGCGCCCCGGGGGAGA&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 26483980,
      "ref": "GGAGGCGGCGCCCCGGGGGAGA",
      "alt": "G",
      "effect": "disruptive_inframe_deletion",
      "transcript": "ENST00000215917.11",
      "consequences": [
        {
          "aa_ref": "GREAAPRG",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SRRD",
          "gene_hgnc_id": 33910,
          "hgvs_c": "c.129_149delGAGAGAGGCGGCGCCCCGGGG",
          "hgvs_p": "p.Arg44_Gly50del",
          "transcript": "NM_001013694.3",
          "protein_id": "NP_001013716.2",
          "transcript_support_level": null,
          "aa_start": 43,
          "aa_end": null,
          "aa_length": 339,
          "cds_start": 129,
          "cds_end": null,
          "cds_length": 1020,
          "cdna_start": 143,
          "cdna_end": null,
          "cdna_length": 4020,
          "mane_select": "ENST00000215917.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "GREAAPRG",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SRRD",
          "gene_hgnc_id": 33910,
          "hgvs_c": "c.129_149delGAGAGAGGCGGCGCCCCGGGG",
          "hgvs_p": "p.Arg44_Gly50del",
          "transcript": "ENST00000215917.11",
          "protein_id": "ENSP00000215917.6",
          "transcript_support_level": 1,
          "aa_start": 43,
          "aa_end": null,
          "aa_length": 339,
          "cds_start": 129,
          "cds_end": null,
          "cds_length": 1020,
          "cdna_start": 143,
          "cdna_end": null,
          "cdna_length": 4020,
          "mane_select": "NM_001013694.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "GREAAPRG",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SRRD",
          "gene_hgnc_id": 33910,
          "hgvs_c": "c.129_149delGAGAGAGGCGGCGCCCCGGGG",
          "hgvs_p": "p.Arg44_Gly50del",
          "transcript": "XM_017028799.3",
          "protein_id": "XP_016884288.1",
          "transcript_support_level": null,
          "aa_start": 43,
          "aa_end": null,
          "aa_length": 226,
          "cds_start": 129,
          "cds_end": null,
          "cds_length": 681,
          "cdna_start": 143,
          "cdna_end": null,
          "cdna_length": 3865,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SRRD",
          "gene_hgnc_id": 33910,
          "hgvs_c": "c.-131_-111delGAGAGAGGCGGCGCCCCGGGG",
          "hgvs_p": null,
          "transcript": "XM_011530178.3",
          "protein_id": "XP_011528480.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 268,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4066,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HPS4",
          "gene_hgnc_id": 15844,
          "hgvs_c": "c.-806_-786delTCTCCCCCGGGGCGCCGCCTC",
          "hgvs_p": null,
          "transcript": "NM_022081.6",
          "protein_id": "NP_071364.4",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 708,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2127,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5066,
          "mane_select": "ENST00000398145.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HPS4",
          "gene_hgnc_id": 15844,
          "hgvs_c": "c.-806_-786delTCTCCCCCGGGGCGCCGCCTC",
          "hgvs_p": null,
          "transcript": "ENST00000398145.7",
          "protein_id": "ENSP00000381213.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 708,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2127,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5066,
          "mane_select": "NM_022081.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HPS4",
          "gene_hgnc_id": 15844,
          "hgvs_c": "n.-715_-695delTCTCCCCCGGGGCGCCGCCTC",
          "hgvs_p": null,
          "transcript": "ENST00000439453.5",
          "protein_id": "ENSP00000406764.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3936,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HPS4",
          "gene_hgnc_id": 15844,
          "hgvs_c": "n.-164_-144delTCTCCCCCGGGGCGCCGCCTC",
          "hgvs_p": null,
          "transcript": "ENST00000466781.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6136,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HPS4",
          "gene_hgnc_id": 15844,
          "hgvs_c": "c.-806_-786delTCTCCCCCGGGGCGCCGCCTC",
          "hgvs_p": null,
          "transcript": "NM_001349900.2",
          "protein_id": "NP_001336829.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 726,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2181,
          "cdna_start": null,
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          "cdna_length": 5120,
          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HPS4",
          "gene_hgnc_id": 15844,
          "hgvs_c": "c.-715_-695delTCTCCCCCGGGGCGCCGCCTC",
          "hgvs_p": null,
          "transcript": "NM_001349901.1",
          "protein_id": "NP_001336830.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "HPS4",
          "gene_hgnc_id": 15844,
          "hgvs_c": "c.-715_-695delTCTCCCCCGGGGCGCCGCCTC",
          "hgvs_p": null,
          "transcript": "ENST00000422379.3",
          "protein_id": "ENSP00000415081.3",
          "transcript_support_level": 5,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          ],
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          "gene_symbol": "HPS4",
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          "hgvs_c": "c.-715_-695delTCTCCCCCGGGGCGCCGCCTC",
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          "transcript": "NM_001349896.1",
          "protein_id": "NP_001336825.1",
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        {
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          ],
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          "gene_symbol": "HPS4",
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          "hgvs_c": "c.-934_-914delTCTCCCCCGGGGCGCCGCCTC",
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          ],
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          "transcript": "ENST00000473782.2",
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          "hgvs_c": "c.-735_-715delTCTCCCCCGGGGCGCCGCCTC",
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          "transcript": "NM_001410832.1",
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          ],
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          "gene_symbol": "HPS4",
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          "hgvs_c": "c.-806_-786delTCTCCCCCGGGGCGCCGCCTC",
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          "transcript": "ENST00000699244.1",
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        {
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          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HPS4",
          "gene_hgnc_id": 15844,
          "hgvs_c": "n.-218_-198delTCTCCCCCGGGGCGCCGCCTC",
          "hgvs_p": null,
          "transcript": "XR_007067988.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3951,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HPS4",
          "gene_hgnc_id": 15844,
          "hgvs_c": "n.-218_-198delTCTCCCCCGGGGCGCCGCCTC",
          "hgvs_p": null,
          "transcript": "XR_007067989.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3897,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "SRRD",
      "gene_hgnc_id": 33910,
      "dbsnp": "rs66831137",
      "frequency_reference_population": 0.8724436,
      "hom_count_reference_population": 520703,
      "allele_count_reference_population": 1162662,
      "gnomad_exomes_af": 0.87746,
      "gnomad_genomes_af": 0.831416,
      "gnomad_exomes_ac": 1041942,
      "gnomad_genomes_ac": 120720,
      "gnomad_exomes_homalt": 469681,
      "gnomad_genomes_homalt": 51022,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": null,
      "computational_prediction_selected": null,
      "computational_source_selected": null,
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": null,
      "bayesdelnoaf_prediction": null,
      "phylop100way_score": 0.735,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -8,
      "acmg_classification": "Benign",
      "acmg_criteria": "PM4,BP6_Moderate,BA1",
      "acmg_by_gene": [
        {
          "score": -8,
          "benign_score": 10,
          "pathogenic_score": 2,
          "criteria": [
            "PM4",
            "BP6_Moderate",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000215917.11",
          "gene_symbol": "SRRD",
          "hgnc_id": 33910,
          "effects": [
            "disruptive_inframe_deletion"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.129_149delGAGAGAGGCGGCGCCCCGGGG",
          "hgvs_p": "p.Arg44_Gly50del"
        },
        {
          "score": -10,
          "benign_score": 10,
          "pathogenic_score": 0,
          "criteria": [
            "BP6_Moderate",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000398145.7",
          "gene_symbol": "HPS4",
          "hgnc_id": 15844,
          "effects": [
            "upstream_gene_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.-806_-786delTCTCCCCCGGGGCGCCGCCTC",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "B:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}