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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: 10-95693689-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95693689&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 95693689,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_015631.6",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCTN3",
          "gene_hgnc_id": 24519,
          "hgvs_c": "c.211G>A",
          "hgvs_p": "p.Val71Met",
          "transcript": "NM_015631.6",
          "protein_id": "NP_056446.4",
          "transcript_support_level": null,
          "aa_start": 71,
          "aa_end": null,
          "aa_length": 607,
          "cds_start": 211,
          "cds_end": null,
          "cds_length": 1824,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000371217.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015631.6"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCTN3",
          "gene_hgnc_id": 24519,
          "hgvs_c": "c.211G>A",
          "hgvs_p": "p.Val71Met",
          "transcript": "ENST00000371217.10",
          "protein_id": "ENSP00000360261.5",
          "transcript_support_level": 1,
          "aa_start": 71,
          "aa_end": null,
          "aa_length": 607,
          "cds_start": 211,
          "cds_end": null,
          "cds_length": 1824,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_015631.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371217.10"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCTN3",
          "gene_hgnc_id": 24519,
          "hgvs_c": "c.265G>A",
          "hgvs_p": "p.Val89Met",
          "transcript": "ENST00000265993.13",
          "protein_id": "ENSP00000265993.9",
          "transcript_support_level": 1,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 265,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000265993.13"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCTN3",
          "gene_hgnc_id": 24519,
          "hgvs_c": "c.265G>A",
          "hgvs_p": "p.Val89Met",
          "transcript": "ENST00000614499.5",
          "protein_id": "ENSP00000483364.2",
          "transcript_support_level": 1,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 620,
          "cds_start": 265,
          "cds_end": null,
          "cds_length": 1863,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000614499.5"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCTN3",
          "gene_hgnc_id": 24519,
          "hgvs_c": "c.211G>A",
          "hgvs_p": "p.Val71Met",
          "transcript": "ENST00000430368.6",
          "protein_id": "ENSP00000387567.1",
          "transcript_support_level": 2,
          "aa_start": 71,
          "aa_end": null,
          "aa_length": 459,
          "cds_start": 211,
          "cds_end": null,
          "cds_length": 1380,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000430368.6"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCTN3",
          "gene_hgnc_id": 24519,
          "hgvs_c": "c.211G>A",
          "hgvs_p": "p.Val71Met",
          "transcript": "ENST00000371209.5",
          "protein_id": "ENSP00000360253.5",
          "transcript_support_level": 1,
          "aa_start": 71,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": 211,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371209.5"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCTN3",
          "gene_hgnc_id": 24519,
          "hgvs_c": "c.211G>A",
          "hgvs_p": "p.Val71Met",
          "transcript": "ENST00000898873.1",
          "protein_id": "ENSP00000568932.1",
          "transcript_support_level": null,
          "aa_start": 71,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": 211,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898873.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCTN3",
          "gene_hgnc_id": 24519,
          "hgvs_c": "c.211G>A",
          "hgvs_p": "p.Val71Met",
          "transcript": "ENST00000898868.1",
          "protein_id": "ENSP00000568927.1",
          "transcript_support_level": null,
          "aa_start": 71,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": 211,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898868.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCTN3",
          "gene_hgnc_id": 24519,
          "hgvs_c": "c.211G>A",
          "hgvs_p": "p.Val71Met",
          "transcript": "ENST00000939774.1",
          "protein_id": "ENSP00000609833.1",
          "transcript_support_level": null,
          "aa_start": 71,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": 211,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000939774.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCTN3",
          "gene_hgnc_id": 24519,
          "hgvs_c": "c.211G>A",
          "hgvs_p": "p.Val71Met",
          "transcript": "ENST00000898870.1",
          "protein_id": "ENSP00000568929.1",
          "transcript_support_level": null,
          "aa_start": 71,
          "aa_end": null,
          "aa_length": 600,
          "cds_start": 211,
          "cds_end": null,
          "cds_length": 1803,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898870.1"
        },
        {
          "aa_ref": "V",
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          "strand": false,
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          ],
          "exon_rank": 1,
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          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "TCTN3",
          "gene_hgnc_id": 24519,
          "hgvs_c": "c.211G>A",
          "hgvs_p": "p.Val71Met",
          "transcript": "ENST00000956556.1",
          "protein_id": "ENSP00000626615.1",
          "transcript_support_level": null,
          "aa_start": 71,
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          "aa_length": 600,
          "cds_start": 211,
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          "cds_length": 1803,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "TCTN3",
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          "hgvs_p": "p.Val71Met",
          "transcript": "ENST00000898866.1",
          "protein_id": "ENSP00000568925.1",
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          "aa_length": 580,
          "cds_start": 211,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          "strand": false,
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          ],
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          "hgvs_c": "c.211G>A",
          "hgvs_p": "p.Val71Met",
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          "biotype": "protein_coding",
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        {
          "aa_ref": "V",
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          "canonical": false,
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          "strand": false,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "TCTN3",
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          "hgvs_c": "c.211G>A",
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          "transcript": "ENST00000680144.1",
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        {
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          "biotype": "protein_coding",
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        {
          "aa_ref": "V",
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          "canonical": false,
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          "strand": false,
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          "transcript": "ENST00000956559.1",
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        {
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          "hgvs_c": "c.211G>A",
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          "transcript": "ENST00000898869.1",
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        {
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          "biotype": "protein_coding",
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        {
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          "intron_rank": null,
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          "gene_symbol": "TCTN3",
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000956557.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCTN3",
          "gene_hgnc_id": 24519,
          "hgvs_c": "c.211G>A",
          "hgvs_p": "p.Val71Met",
          "transcript": "ENST00000898867.1",
          "protein_id": "ENSP00000568926.1",
          "transcript_support_level": null,
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          "cds_start": 211,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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      "gene_hgnc_id": 24519,
      "dbsnp": "rs138495428",
      "frequency_reference_population": 0.0000032225548,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 5,
      "gnomad_exomes_af": 0.00000214378,
      "gnomad_genomes_af": 0.0000131434,
      "gnomad_exomes_ac": 3,
      "gnomad_genomes_ac": 2,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.1826227605342865,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.324,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.1205,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.33,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.014,
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_015631.6",
          "gene_symbol": "TCTN3",
          "hgnc_id": 24519,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.211G>A",
          "hgvs_p": "p.Val71Met"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}