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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: 17-46031116-A-AGCCCTCT (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=46031116&ref=A&alt=AGCCCTCT&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 46031116,
      "ref": "A",
      "alt": "AGCCCTCT",
      "effect": "3_prime_UTR_variant",
      "transcript": "ENST00000432791.7",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANSL1",
          "gene_hgnc_id": 24565,
          "hgvs_c": "n.7894_7895insAGAGGGC",
          "hgvs_p": null,
          "transcript": "ENST00000572218.5",
          "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": 9095,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANSL1",
          "gene_hgnc_id": 24565,
          "hgvs_c": "c.*359_*360insAGAGGGC",
          "hgvs_p": null,
          "transcript": "NM_015443.4",
          "protein_id": "NP_056258.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1105,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3318,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5574,
          "mane_select": "ENST00000432791.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANSL1",
          "gene_hgnc_id": 24565,
          "hgvs_c": "c.*359_*360insAGAGGGC",
          "hgvs_p": null,
          "transcript": "ENST00000432791.7",
          "protein_id": "ENSP00000387393.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1105,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3318,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5574,
          "mane_select": "NM_015443.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANSL1",
          "gene_hgnc_id": 24565,
          "hgvs_c": "c.*359_*360insAGAGGGC",
          "hgvs_p": null,
          "transcript": "ENST00000262419.10",
          "protein_id": "ENSP00000262419.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1105,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3318,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5309,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 1,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANSL1",
          "gene_hgnc_id": 24565,
          "hgvs_c": "n.1450_1451insAGAGGGC",
          "hgvs_p": null,
          "transcript": "ENST00000574963.1",
          "protein_id": null,
          "transcript_support_level": 6,
          "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": 1493,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANSL1",
          "gene_hgnc_id": 24565,
          "hgvs_c": "n.1649_1650insAGAGGGC",
          "hgvs_p": null,
          "transcript": "ENST00000576870.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 2848,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANSL1",
          "gene_hgnc_id": 24565,
          "hgvs_c": "c.*359_*360insAGAGGGC",
          "hgvs_p": null,
          "transcript": "NM_001193466.2",
          "protein_id": "NP_001180395.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1105,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3318,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5331,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANSL1",
          "gene_hgnc_id": 24565,
          "hgvs_c": "c.*359_*360insAGAGGGC",
          "hgvs_p": null,
          "transcript": "NM_001379198.1",
          "protein_id": "NP_001366127.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1105,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3318,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5128,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANSL1",
          "gene_hgnc_id": 24565,
          "hgvs_c": "c.*359_*360insAGAGGGC",
          "hgvs_p": null,
          "transcript": "NM_001405854.1",
          "protein_id": "NP_001392783.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1105,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3318,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5300,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANSL1",
          "gene_hgnc_id": 24565,
          "hgvs_c": "c.*359_*360insAGAGGGC",
          "hgvs_p": null,
          "transcript": "NM_001405855.1",
          "protein_id": "NP_001392784.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1105,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3318,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5268,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "KANSL1",
          "gene_hgnc_id": 24565,
          "hgvs_c": "c.*359_*360insAGAGGGC",
          "hgvs_p": null,
          "transcript": "ENST00000572904.6",
          "protein_id": "ENSP00000461484.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1105,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3318,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4973,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "KANSL1",
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          "hgvs_c": "c.*359_*360insAGAGGGC",
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          "transcript": "NM_001193465.2",
          "protein_id": "NP_001180394.1",
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 15,
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          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "KANSL1",
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          "hgvs_c": "c.*359_*360insAGAGGGC",
          "hgvs_p": null,
          "transcript": "NM_001405856.1",
          "protein_id": "NP_001392785.1",
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          "mane_select": null,
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "KANSL1",
          "gene_hgnc_id": 24565,
          "hgvs_c": "c.*359_*360insAGAGGGC",
          "hgvs_p": null,
          "transcript": "NM_001405857.1",
          "protein_id": "NP_001392786.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cdna_start": null,
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        },
        {
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          "canonical": false,
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          "consequences": [
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          ],
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          "hgvs_c": "c.*359_*360insAGAGGGC",
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          "transcript": "NM_001405858.1",
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 16,
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          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "KANSL1",
          "gene_hgnc_id": 24565,
          "hgvs_c": "c.*359_*360insAGAGGGC",
          "hgvs_p": null,
          "transcript": "ENST00000574590.6",
          "protein_id": "ENSP00000461812.2",
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": 1104,
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          "mane_select": null,
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 15,
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          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "KANSL1",
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          "hgvs_c": "c.*359_*360insAGAGGGC",
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          "transcript": "NM_001405859.1",
          "protein_id": "NP_001392788.1",
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          "cdna_start": null,
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          "cdna_length": 5026,
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        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "KANSL1",
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          "hgvs_c": "c.*359_*360insAGAGGGC",
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        {
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          ],
          "exon_rank": 15,
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          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "KANSL1",
          "gene_hgnc_id": 24565,
          "hgvs_c": "c.*359_*360insAGAGGGC",
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          "transcript": "NM_001405861.1",
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "KANSL1",
          "gene_hgnc_id": 24565,
          "hgvs_c": "c.*359_*360insAGAGGGC",
          "hgvs_p": null,
          "transcript": "NM_001405872.1",
          "protein_id": "NP_001392801.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1061,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3186,
          "cdna_start": null,
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          "cdna_length": 4996,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "KANSL1",
          "gene_hgnc_id": 24565,
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          "inheritance_mode": "AD",
          "hgvs_c": "c.*359_*360insAGAGGGC",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "MAPT-Related Spectrum Disorders,Syndromic intellectual disability",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "B:2",
      "phenotype_combined": "MAPT-Related Spectrum Disorders|Syndromic intellectual disability",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}