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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: 14-88620934-TAAAA-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=88620934&ref=TAAAA&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 88620934,
      "ref": "TAAAA",
      "alt": "T",
      "effect": "3_prime_UTR_variant",
      "transcript": "ENST00000251038.10",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.*9197_*9200delAAAA",
          "hgvs_p": null,
          "transcript": "NM_024824.5",
          "protein_id": "NP_079100.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 18153,
          "mane_select": "ENST00000251038.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.*9197_*9200delAAAA",
          "hgvs_p": null,
          "transcript": "ENST00000251038.10",
          "protein_id": "ENSP00000251038.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 18153,
          "mane_select": "NM_024824.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": 38,
          "intron_rank_end": null,
          "gene_symbol": "EML5",
          "gene_hgnc_id": 18197,
          "hgvs_c": "c.5203-12_5203-9delTTTT",
          "hgvs_p": null,
          "transcript": "NM_183387.3",
          "protein_id": "NP_899243.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1977,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5934,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9771,
          "mane_select": "ENST00000554922.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": 38,
          "intron_rank_end": null,
          "gene_symbol": "EML5",
          "gene_hgnc_id": 18197,
          "hgvs_c": "c.5203-12_5203-9delTTTT",
          "hgvs_p": null,
          "transcript": "ENST00000554922.6",
          "protein_id": "ENSP00000451998.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1977,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5934,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9771,
          "mane_select": "NM_183387.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "n.11345_11348delAAAA",
          "hgvs_p": null,
          "transcript": "NR_136936.2",
          "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": 17993,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.*9197_*9200delAAAA",
          "hgvs_p": null,
          "transcript": "NM_001160103.2",
          "protein_id": "NP_001153575.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 735,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2208,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 18150,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.*9197_*9200delAAAA",
          "hgvs_p": null,
          "transcript": "NM_001326310.2",
          "protein_id": "NP_001313239.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 731,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2196,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 18138,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.*9197_*9200delAAAA",
          "hgvs_p": null,
          "transcript": "NM_001160104.2",
          "protein_id": "NP_001153576.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 730,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2193,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 18135,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.*9197_*9200delAAAA",
          "hgvs_p": null,
          "transcript": "NM_001326307.2",
          "protein_id": "NP_001313236.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 711,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2136,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 18078,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.*9197_*9200delAAAA",
          "hgvs_p": null,
          "transcript": "NM_001326296.2",
          "protein_id": "NP_001313225.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 710,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2133,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 18075,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.*9197_*9200delAAAA",
          "hgvs_p": null,
          "transcript": "NM_001326312.2",
          "protein_id": "NP_001313241.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 706,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2121,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 18063,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.*9197_*9200delAAAA",
          "hgvs_p": null,
          "transcript": "NM_001326299.2",
          "protein_id": "NP_001313228.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.*9197_*9200delAAAA",
          "hgvs_p": null,
          "transcript": "NM_001326297.2",
          "protein_id": "NP_001313226.1",
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 18334,
          "mane_select": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.*9197_*9200delAAAA",
          "hgvs_p": null,
          "transcript": "NM_001326315.2",
          "protein_id": "NP_001313244.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 701,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 17,
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          "gene_symbol": "ZC3H14",
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          "hgvs_c": "c.*9197_*9200delAAAA",
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          "transcript": "NM_001326316.2",
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.*9197_*9200delAAAA",
          "hgvs_p": null,
          "transcript": "NM_001326301.2",
          "protein_id": "NP_001313230.1",
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          "aa_length": 677,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.*9197_*9200delAAAA",
          "hgvs_p": null,
          "transcript": "NM_001326295.2",
          "protein_id": "NP_001313224.1",
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          "aa_length": 605,
          "cds_start": -4,
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          "cds_length": 1818,
          "cdna_start": null,
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          "cdna_length": 17760,
          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.*9197_*9200delAAAA",
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          "transcript": "NM_001326300.2",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 14,
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          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.*9197_*9200delAAAA",
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          "transcript": "NM_001326298.2",
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          "cdna_length": 17685,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
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          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.*9197_*9200delAAAA",
          "hgvs_p": null,
          "transcript": "NM_001326302.2",
          "protein_id": "NP_001313231.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 580,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1743,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 18035,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
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