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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: 3-177051590-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=177051590&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
  "variants": [
    {
      "chr": "3",
      "pos": 177051590,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000457928.7",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.341C>T",
          "hgvs_p": "p.Ala114Val",
          "transcript": "NM_024665.7",
          "protein_id": "NP_078941.2",
          "transcript_support_level": null,
          "aa_start": 114,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 341,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 824,
          "cdna_end": null,
          "cdna_length": 8182,
          "mane_select": "ENST00000457928.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.341C>T",
          "hgvs_p": "p.Ala114Val",
          "transcript": "ENST00000457928.7",
          "protein_id": "ENSP00000413251.3",
          "transcript_support_level": 1,
          "aa_start": 114,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 341,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 824,
          "cdna_end": null,
          "cdna_length": 8182,
          "mane_select": "NM_024665.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.341C>T",
          "hgvs_p": "p.Ala114Val",
          "transcript": "ENST00000430069.5",
          "protein_id": "ENSP00000405574.1",
          "transcript_support_level": 1,
          "aa_start": 114,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 341,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 601,
          "cdna_end": null,
          "cdna_length": 7948,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.341C>T",
          "hgvs_p": "p.Ala114Val",
          "transcript": "NM_001321193.3",
          "protein_id": "NP_001308122.1",
          "transcript_support_level": null,
          "aa_start": 114,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 341,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 601,
          "cdna_end": null,
          "cdna_length": 7959,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.341C>T",
          "hgvs_p": "p.Ala114Val",
          "transcript": "NM_001321194.3",
          "protein_id": "NP_001308123.1",
          "transcript_support_level": null,
          "aa_start": 114,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 341,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 943,
          "cdna_end": null,
          "cdna_length": 8301,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.341C>T",
          "hgvs_p": "p.Ala114Val",
          "transcript": "NM_001374327.1",
          "protein_id": "NP_001361256.1",
          "transcript_support_level": null,
          "aa_start": 114,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 341,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 748,
          "cdna_end": null,
          "cdna_length": 8106,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.341C>T",
          "hgvs_p": "p.Ala114Val",
          "transcript": "NM_001374328.1",
          "protein_id": "NP_001361257.1",
          "transcript_support_level": null,
          "aa_start": 114,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 341,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 631,
          "cdna_end": null,
          "cdna_length": 7989,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.341C>T",
          "hgvs_p": "p.Ala114Val",
          "transcript": "NM_001374329.1",
          "protein_id": "NP_001361258.1",
          "transcript_support_level": null,
          "aa_start": 114,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 341,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 612,
          "cdna_end": null,
          "cdna_length": 7970,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.341C>T",
          "hgvs_p": "p.Ala114Val",
          "transcript": "ENST00000352800.10",
          "protein_id": "ENSP00000263964.11",
          "transcript_support_level": 5,
          "aa_start": 114,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 341,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 518,
          "cdna_end": null,
          "cdna_length": 2454,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.341C>T",
          "hgvs_p": "p.Ala114Val",
          "transcript": "ENST00000422066.6",
          "protein_id": "ENSP00000398477.2",
          "transcript_support_level": 4,
          "aa_start": 114,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 341,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 685,
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          "cdna_length": 2619,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
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          "intron_rank": null,
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          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.341C>T",
          "hgvs_p": "p.Ala114Val",
          "transcript": "ENST00000422442.6",
          "protein_id": "ENSP00000387849.3",
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          "cds_start": 341,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
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          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.341C>T",
          "hgvs_p": "p.Ala114Val",
          "transcript": "ENST00000673974.1",
          "protein_id": "ENSP00000501274.1",
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        },
        {
          "aa_ref": "A",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
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          "intron_rank": null,
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          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.341C>T",
          "hgvs_p": "p.Ala114Val",
          "transcript": "ENST00000704383.1",
          "protein_id": "ENSP00000515885.1",
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
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          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.341C>T",
          "hgvs_p": "p.Ala114Val",
          "transcript": "ENST00000704384.1",
          "protein_id": "ENSP00000515886.1",
          "transcript_support_level": null,
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          "feature": null
        },
        {
          "aa_ref": "A",
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          "strand": false,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.341C>T",
          "hgvs_p": "p.Ala114Val",
          "transcript": "ENST00000704385.1",
          "protein_id": "ENSP00000515887.1",
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
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          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.80C>T",
          "hgvs_p": "p.Ala27Val",
          "transcript": "NM_001321195.3",
          "protein_id": "NP_001308124.1",
          "transcript_support_level": null,
          "aa_start": 27,
          "aa_end": null,
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          "cds_start": 80,
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          "cdna_start": 498,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.80C>T",
          "hgvs_p": "p.Ala27Val",
          "transcript": "NM_001374330.1",
          "protein_id": "NP_001361259.1",
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        },
        {
          "aa_ref": "A",
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          ],
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          "intron_rank": null,
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          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.80C>T",
          "hgvs_p": "p.Ala27Val",
          "transcript": "ENST00000431421.6",
          "protein_id": "ENSP00000402402.2",
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          "feature": null
        },
        {
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          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
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          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.341C>T",
          "hgvs_p": "p.Ala114Val",
          "transcript": "ENST00000437738.5",
          "protein_id": "ENSP00000392180.2",
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          "cdna_start": 470,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.341C>T",
          "hgvs_p": "p.Ala114Val",
          "transcript": "ENST00000635794.1",
          "protein_id": "ENSP00000490246.1",
          "transcript_support_level": 5,
          "aa_start": 114,
          "aa_end": null,
          "aa_length": 130,
          "cds_start": 341,
          "cds_end": null,
          "cds_length": 395,
          "cdna_start": 714,
          "cdna_end": null,
          "cdna_length": 768,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
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          "inheritance_mode": "AD",
          "hgvs_c": "c.341C>T",
          "hgvs_p": "p.Ala114Val"
        }
      ],
      "clinvar_disease": "Pierpont syndrome",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Pierpont syndrome",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}