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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: 12-50981283-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=50981283&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 50981283,
      "ref": "G",
      "alt": "A",
      "effect": "non_coding_transcript_exon_variant",
      "transcript": "NR_183177.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "c.*443C>T",
          "hgvs_p": null,
          "transcript": "ENST00000547198.5",
          "protein_id": "ENSP00000446769.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2486,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "n.*87+356C>T",
          "hgvs_p": null,
          "transcript": "ENST00000546636.5",
          "protein_id": "ENSP00000449008.1",
          "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": 2125,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "n.2499C>T",
          "hgvs_p": null,
          "transcript": "NR_183177.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 3998,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "n.2504C>T",
          "hgvs_p": null,
          "transcript": "NR_183178.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 4003,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "c.*443C>T",
          "hgvs_p": null,
          "transcript": "NM_001379446.1",
          "protein_id": "NP_001366375.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 597,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1794,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3753,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "c.*443C>T",
          "hgvs_p": null,
          "transcript": "ENST00000547688.7",
          "protein_id": "ENSP00000449200.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 597,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1794,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3753,
          "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": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "c.*546C>T",
          "hgvs_p": null,
          "transcript": "ENST00000643884.1",
          "protein_id": "ENSP00000493633.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 573,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1722,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3810,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "c.*443C>T",
          "hgvs_p": null,
          "transcript": "NM_001174126.2",
          "protein_id": "NP_001167597.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3762,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "c.*443C>T",
          "hgvs_p": null,
          "transcript": "NM_001174127.2",
          "protein_id": "NP_001167598.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3757,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "c.*443C>T",
          "hgvs_p": null,
          "transcript": "NM_001379447.2",
          "protein_id": "NP_001366376.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4297,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "c.*443C>T",
          "hgvs_p": null,
          "transcript": "ENST00000644495.1",
          "protein_id": "ENSP00000494107.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3762,
          "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": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "c.*443C>T",
          "hgvs_p": null,
          "transcript": "NM_001379448.1",
          "protein_id": "NP_001366377.1",
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          "aa_start": null,
          "aa_end": null,
          "aa_length": 564,
          "cds_start": -4,
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          "cds_length": 1695,
          "cdna_start": null,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "c.*546C>T",
          "hgvs_p": null,
          "transcript": "NM_001414744.1",
          "protein_id": "NP_001401673.1",
          "transcript_support_level": null,
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          "aa_length": 561,
          "cds_start": -4,
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          "cds_length": 1686,
          "cdna_start": null,
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          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 17,
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          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "c.*546C>T",
          "hgvs_p": null,
          "transcript": "NM_001414746.1",
          "protein_id": "NP_001401675.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": null,
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          "cdna_length": 3844,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
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            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "c.*443C>T",
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          "transcript": "NM_001414747.1",
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          "feature": null
        },
        {
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "c.*443C>T",
          "hgvs_p": null,
          "transcript": "XM_047428887.1",
          "protein_id": "XP_047284843.1",
          "transcript_support_level": null,
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          "aa_length": 597,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1794,
          "cdna_start": null,
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          "cdna_length": 4298,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "c.*443C>T",
          "hgvs_p": null,
          "transcript": "XM_011538404.4",
          "protein_id": "XP_011536706.1",
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 4101,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "c.*443C>T",
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          "transcript": "XM_011538405.4",
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          "feature": null
        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "n.*87+356C>T",
          "hgvs_p": null,
          "transcript": "ENST00000551215.5",
          "protein_id": "ENSP00000450227.1",
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          "mane_select": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "n.1902+356C>T",
          "hgvs_p": null,
          "transcript": "NR_033422.2",
          "protein_id": null,
          "transcript_support_level": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 2177,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "SLC11A2",
          "gene_hgnc_id": 10908,
          "hgvs_c": "n.1907+356C>T",
          "hgvs_p": null,
          "transcript": "NR_166668.1",
          "protein_id": null,
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      "phylop100way_prediction": "Benign",
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      "acmg_classification": "Benign",
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          "verdict": "Benign",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}