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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: 11-2390306-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2390306&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 2390306,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_001425135.1",
      "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CD81",
          "gene_hgnc_id": 1701,
          "hgvs_c": "c.67-106C>T",
          "hgvs_p": null,
          "transcript": "NM_004356.4",
          "protein_id": "NP_004347.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 236,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 711,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000263645.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004356.4"
        },
        {
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CD81",
          "gene_hgnc_id": 1701,
          "hgvs_c": "c.67-106C>T",
          "hgvs_p": null,
          "transcript": "ENST00000263645.10",
          "protein_id": "ENSP00000263645.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 236,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 711,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004356.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000263645.10"
        },
        {
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CD81",
          "gene_hgnc_id": 1701,
          "hgvs_c": "c.268-106C>T",
          "hgvs_p": null,
          "transcript": "ENST00000533417.6",
          "protein_id": "ENSP00000435633.2",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 303,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 912,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000533417.6"
        },
        {
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CD81",
          "gene_hgnc_id": 1701,
          "hgvs_c": "c.67-106C>T",
          "hgvs_p": null,
          "transcript": "NM_001425135.1",
          "protein_id": "NP_001412064.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 277,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 834,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001425135.1"
        },
        {
          "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": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CD81",
          "gene_hgnc_id": 1701,
          "hgvs_c": "c.181-106C>T",
          "hgvs_p": null,
          "transcript": "ENST00000381036.7",
          "protein_id": "ENSP00000370424.3",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 274,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 825,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000381036.7"
        },
        {
          "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": 11,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CD81",
          "gene_hgnc_id": 1701,
          "hgvs_c": "c.67-106C>T",
          "hgvs_p": null,
          "transcript": "ENST00000905044.1",
          "protein_id": "ENSP00000575103.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 236,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 711,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905044.1"
        },
        {
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CD81",
          "gene_hgnc_id": 1701,
          "hgvs_c": "c.67-106C>T",
          "hgvs_p": null,
          "transcript": "NM_001425137.1",
          "protein_id": "NP_001412066.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 235,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 708,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001425137.1"
        },
        {
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CD81",
          "gene_hgnc_id": 1701,
          "hgvs_c": "c.67-106C>T",
          "hgvs_p": null,
          "transcript": "ENST00000905049.1",
          "protein_id": "ENSP00000575108.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 235,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 708,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905049.1"
        },
        {
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CD81",
          "gene_hgnc_id": 1701,
          "hgvs_c": "c.67-106C>T",
          "hgvs_p": null,
          "transcript": "ENST00000905047.1",
          "protein_id": "ENSP00000575106.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 233,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 702,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905047.1"
        },
        {
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CD81",
          "gene_hgnc_id": 1701,
          "hgvs_c": "c.67-106C>T",
          "hgvs_p": null,
          "transcript": "ENST00000905048.1",
          "protein_id": "ENSP00000575107.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 233,
          "cds_start": null,
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          "cds_length": 702,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
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        {
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          "canonical": false,
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          ],
          "exon_rank": null,
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          "gene_symbol": "CD81",
          "gene_hgnc_id": 1701,
          "hgvs_c": "c.67-106C>T",
          "hgvs_p": null,
          "transcript": "ENST00000935698.1",
          "protein_id": "ENSP00000605757.1",
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          "aa_start": null,
          "aa_end": null,
          "aa_length": 231,
          "cds_start": null,
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          "cds_length": 696,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          "intron_rank": 1,
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          "gene_symbol": "CD81",
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          "hgvs_c": "c.67-106C>T",
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          "cdna_start": null,
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        {
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        {
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          "gene_symbol": "CD81",
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          "hgvs_c": "c.34-106C>T",
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          "cds_start": null,
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        {
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          "gene_symbol": "CD81",
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          "hgvs_c": "c.67-106C>T",
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        {
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        {
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          "gene_symbol": "CD81",
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        {
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          "intron_rank": 1,
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          "gene_symbol": "CD81",
          "gene_hgnc_id": 1701,
          "hgvs_c": "c.-147-106C>T",
          "hgvs_p": null,
          "transcript": "NM_001297649.2",
          "protein_id": "NP_001284578.1",
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001297649.2"
        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
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      "acmg_classification": "Benign",
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      "clinvar_disease": "not provided",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:2",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
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  "message": null
}