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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: 5-146878727-AGCTGCTGCTGCTGCTGCTGCTGCT-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=146878727&ref=AGCTGCTGCTGCTGCTGCTGCTGCT&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 146878727,
      "ref": "AGCTGCTGCTGCTGCTGCTGCTGCT",
      "alt": "A",
      "effect": "5_prime_UTR_variant",
      "transcript": "ENST00000394411.9",
      "consequences": [
        {
          "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": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2B",
          "gene_hgnc_id": 9305,
          "hgvs_c": "n.144_167delAGCAGCAGCAGCAGCAGCAGCAGC",
          "hgvs_p": null,
          "transcript": "ENST00000530902.5",
          "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": 2093,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2B",
          "gene_hgnc_id": 9305,
          "hgvs_c": "c.-285_-262delAGCAGCAGCAGCAGCAGCAGCAGC",
          "hgvs_p": null,
          "transcript": "NM_181675.4",
          "protein_id": "NP_858061.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10828,
          "mane_select": "ENST00000394411.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2B",
          "gene_hgnc_id": 9305,
          "hgvs_c": "c.-285_-262delAGCAGCAGCAGCAGCAGCAGCAGC",
          "hgvs_p": null,
          "transcript": "ENST00000394411.9",
          "protein_id": "ENSP00000377933.3",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10828,
          "mane_select": "NM_181675.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2B",
          "gene_hgnc_id": 9305,
          "hgvs_c": "c.-798_-775delAGCAGCAGCAGCAGCAGCAGCAGC",
          "hgvs_p": null,
          "transcript": "ENST00000453001.5",
          "protein_id": "ENSP00000398779.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2569,
          "mane_select": null,
          "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": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2B",
          "gene_hgnc_id": 9305,
          "hgvs_c": "c.75-556_75-533delAGCAGCAGCAGCAGCAGCAGCAGC",
          "hgvs_p": null,
          "transcript": "ENST00000394414.5",
          "protein_id": "ENSP00000377936.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 509,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1530,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2262,
          "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": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2B",
          "gene_hgnc_id": 9305,
          "hgvs_c": "n.-175_-152delAGCAGCAGCAGCAGCAGCAGCAGC",
          "hgvs_p": null,
          "transcript": "ENST00000532154.5",
          "protein_id": "ENSP00000434497.1",
          "transcript_support_level": 4,
          "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": 567,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2B",
          "gene_hgnc_id": 9305,
          "hgvs_c": "c.-680_-657delAGCAGCAGCAGCAGCAGCAGCAGC",
          "hgvs_p": null,
          "transcript": "NM_001428277.1",
          "protein_id": "NP_001415206.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 11223,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2B",
          "gene_hgnc_id": 9305,
          "hgvs_c": "c.-175_-152delAGCAGCAGCAGCAGCAGCAGCAGC",
          "hgvs_p": null,
          "transcript": "NM_001428279.1",
          "protein_id": "NP_001415208.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10718,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2B",
          "gene_hgnc_id": 9305,
          "hgvs_c": "c.-798_-775delAGCAGCAGCAGCAGCAGCAGCAGC",
          "hgvs_p": null,
          "transcript": "NM_001271948.2",
          "protein_id": "NP_001258877.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": null,
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          "cdna_length": 11308,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2B",
          "gene_hgnc_id": 9305,
          "hgvs_c": "n.-175_-152delAGCAGCAGCAGCAGCAGCAGCAGC",
          "hgvs_p": null,
          "transcript": "ENST00000532154.5",
          "protein_id": "ENSP00000434497.1",
          "transcript_support_level": 4,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 1,
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          "gene_symbol": "PPP2R2B",
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          "hgvs_c": "c.75-556_75-533delAGCAGCAGCAGCAGCAGCAGCAGC",
          "hgvs_p": null,
          "transcript": "NM_181674.3",
          "protein_id": "NP_858060.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 509,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 10958,
          "mane_select": null,
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        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 2,
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          "hgvs_c": "c.51-556_51-533delAGCAGCAGCAGCAGCAGCAGCAGC",
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          "cds_start": -4,
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          "mane_select": null,
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        {
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          "gene_symbol": "PPP2R2B",
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          "hgvs_c": "c.51-556_51-533delAGCAGCAGCAGCAGCAGCAGCAGC",
          "hgvs_p": null,
          "transcript": "ENST00000394413.7",
          "protein_id": "ENSP00000377935.4",
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        {
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          "gene_symbol": "PPP2R2B",
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          "hgvs_c": "c.89-177609_89-177586delAGCAGCAGCAGCAGCAGCAGCAGC",
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          "transcript": "NM_001271899.1",
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        {
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        {
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          ],
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          "exon_count": 9,
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          "gene_hgnc_id": 9305,
          "hgvs_c": "c.79+176914_79+176937delAGCAGCAGCAGCAGCAGCAGCAGC",
          "hgvs_p": null,
          "transcript": "NM_181676.3",
          "protein_id": "NP_858062.1",
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        {
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          "exon_count": 9,
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          "gene_symbol": "PPP2R2B",
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          "hgvs_p": null,
          "transcript": "ENST00000336640.10",
          "protein_id": "ENSP00000336591.6",
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          "gene_symbol": "PPP2R2B",
          "gene_hgnc_id": 9305,
          "hgvs_c": "c.-48-22168_-48-22145delAGCAGCAGCAGCAGCAGCAGCAGC",
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        {
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          ],
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          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2B",
          "gene_hgnc_id": 9305,
          "hgvs_c": "c.10+156418_10+156441delAGCAGCAGCAGCAGCAGCAGCAGC",
          "hgvs_p": null,
          "transcript": "NM_181677.2",
          "protein_id": "NP_858063.1",
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}