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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: 22-41653610-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41653610&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 41653610,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001469.5",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XRCC6",
          "gene_hgnc_id": 4055,
          "hgvs_c": "c.1211G>A",
          "hgvs_p": "p.Arg404Lys",
          "transcript": "NM_001469.5",
          "protein_id": "NP_001460.1",
          "transcript_support_level": null,
          "aa_start": 404,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1211,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": 1277,
          "cdna_end": null,
          "cdna_length": 2122,
          "mane_select": "ENST00000360079.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001469.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "K",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XRCC6",
          "gene_hgnc_id": 4055,
          "hgvs_c": "c.1211G>A",
          "hgvs_p": "p.Arg404Lys",
          "transcript": "ENST00000360079.8",
          "protein_id": "ENSP00000353192.3",
          "transcript_support_level": 1,
          "aa_start": 404,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1211,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": 1277,
          "cdna_end": null,
          "cdna_length": 2122,
          "mane_select": "NM_001469.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000360079.8"
        },
        {
          "aa_ref": "R",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XRCC6",
          "gene_hgnc_id": 4055,
          "hgvs_c": "c.1211G>A",
          "hgvs_p": "p.Arg404Lys",
          "transcript": "ENST00000359308.8",
          "protein_id": "ENSP00000352257.4",
          "transcript_support_level": 1,
          "aa_start": 404,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1211,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": 1866,
          "cdna_end": null,
          "cdna_length": 2709,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000359308.8"
        },
        {
          "aa_ref": "R",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XRCC6",
          "gene_hgnc_id": 4055,
          "hgvs_c": "c.1286G>A",
          "hgvs_p": "p.Arg429Lys",
          "transcript": "ENST00000938034.1",
          "protein_id": "ENSP00000608093.1",
          "transcript_support_level": null,
          "aa_start": 429,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 1286,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": 1356,
          "cdna_end": null,
          "cdna_length": 2199,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938034.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XRCC6",
          "gene_hgnc_id": 4055,
          "hgvs_c": "c.1247G>A",
          "hgvs_p": "p.Arg416Lys",
          "transcript": "ENST00000892848.1",
          "protein_id": "ENSP00000562907.1",
          "transcript_support_level": null,
          "aa_start": 416,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": 1247,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": 1302,
          "cdna_end": null,
          "cdna_length": 2145,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892848.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XRCC6",
          "gene_hgnc_id": 4055,
          "hgvs_c": "c.1211G>A",
          "hgvs_p": "p.Arg404Lys",
          "transcript": "ENST00000970533.1",
          "protein_id": "ENSP00000640592.1",
          "transcript_support_level": null,
          "aa_start": 404,
          "aa_end": null,
          "aa_length": 620,
          "cds_start": 1211,
          "cds_end": null,
          "cds_length": 1863,
          "cdna_start": 1279,
          "cdna_end": null,
          "cdna_length": 2156,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000970533.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XRCC6",
          "gene_hgnc_id": 4055,
          "hgvs_c": "c.1211G>A",
          "hgvs_p": "p.Arg404Lys",
          "transcript": "NM_001288976.2",
          "protein_id": "NP_001275905.1",
          "transcript_support_level": null,
          "aa_start": 404,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1211,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": 1342,
          "cdna_end": null,
          "cdna_length": 2187,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001288976.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XRCC6",
          "gene_hgnc_id": 4055,
          "hgvs_c": "c.1211G>A",
          "hgvs_p": "p.Arg404Lys",
          "transcript": "ENST00000405878.5",
          "protein_id": "ENSP00000384257.1",
          "transcript_support_level": 5,
          "aa_start": 404,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1211,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": 1357,
          "cdna_end": null,
          "cdna_length": 2200,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000405878.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XRCC6",
          "gene_hgnc_id": 4055,
          "hgvs_c": "c.1211G>A",
          "hgvs_p": "p.Arg404Lys",
          "transcript": "ENST00000892843.1",
          "protein_id": "ENSP00000562902.1",
          "transcript_support_level": null,
          "aa_start": 404,
          "aa_end": null,
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          "cds_start": 1211,
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          "cds_length": 1830,
          "cdna_start": 1272,
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          "cdna_length": 2115,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892843.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
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          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "XRCC6",
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          "hgvs_c": "c.1211G>A",
          "hgvs_p": "p.Arg404Lys",
          "transcript": "ENST00000892849.1",
          "protein_id": "ENSP00000562908.1",
          "transcript_support_level": null,
          "aa_start": 404,
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          "cdna_start": 1298,
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        {
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          "strand": true,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "XRCC6",
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          "hgvs_c": "c.1211G>A",
          "hgvs_p": "p.Arg404Lys",
          "transcript": "ENST00000892850.1",
          "protein_id": "ENSP00000562909.1",
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          "cds_start": 1211,
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        {
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          "transcript": "ENST00000892852.1",
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        {
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        {
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        {
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        {
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          "gene_symbol": "XRCC6",
          "gene_hgnc_id": 4055,
          "hgvs_c": "c.1211G>A",
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          "transcript": "ENST00000938040.1",
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          "aa_start": null,
          "aa_end": null,
          "aa_length": 145,
          "cds_start": null,
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          "cds_length": 438,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 728,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938036.1"
        }
      ],
      "gene_symbol": "XRCC6",
      "gene_hgnc_id": 4055,
      "dbsnp": "rs937641717",
      "frequency_reference_population": 0.000006574622,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.00000657462,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.06488364934921265,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.124,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1013,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.63,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.841,
      "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": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001469.5",
          "gene_symbol": "XRCC6",
          "hgnc_id": 4055,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1211G>A",
          "hgvs_p": "p.Arg404Lys"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
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