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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: 5-50730631-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=50730631&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 50730631,
      "ref": "C",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000281631.10",
      "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": 26,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "c.147-19520C>G",
          "hgvs_p": null,
          "transcript": "NM_024615.4",
          "protein_id": "NP_078891.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 854,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2565,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7475,
          "mane_select": "ENST00000281631.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 26,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "c.147-19520C>G",
          "hgvs_p": null,
          "transcript": "ENST00000281631.10",
          "protein_id": "ENSP00000281631.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 854,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2565,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7475,
          "mane_select": "NM_024615.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 27,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "c.147-19520C>G",
          "hgvs_p": null,
          "transcript": "ENST00000505697.6",
          "protein_id": "ENSP00000422217.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 854,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2565,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2747,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 25,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "c.147-19520C>G",
          "hgvs_p": null,
          "transcript": "ENST00000514067.6",
          "protein_id": "ENSP00000424814.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 812,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2439,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2829,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "n.234-19520C>G",
          "hgvs_p": null,
          "transcript": "ENST00000503561.7",
          "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": 2818,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 27,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "c.270-19520C>G",
          "hgvs_p": null,
          "transcript": "NM_001427055.1",
          "protein_id": "NP_001413984.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 895,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2688,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7388,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 27,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "c.147-19520C>G",
          "hgvs_p": null,
          "transcript": "NM_001178055.2",
          "protein_id": "NP_001171526.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 854,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2565,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7166,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 26,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "c.84-19520C>G",
          "hgvs_p": null,
          "transcript": "NM_001331028.2",
          "protein_id": "NP_001317957.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 833,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2502,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7113,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 26,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "c.84-19520C>G",
          "hgvs_p": null,
          "transcript": "ENST00000505554.5",
          "protein_id": "ENSP00000423946.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 833,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2502,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3825,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 25,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "c.147-19520C>G",
          "hgvs_p": null,
          "transcript": "NM_001178056.2",
          "protein_id": "NP_001171527.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 812,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2439,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7349,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "c.147-8349C>G",
          "hgvs_p": null,
          "transcript": "ENST00000513738.5",
          "protein_id": "ENSP00000422355.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 133,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 402,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 596,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "c.147-19520C>G",
          "hgvs_p": null,
          "transcript": "ENST00000503046.5",
          "protein_id": "ENSP00000421708.1",
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          "aa_start": null,
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          "aa_length": 115,
          "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_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "c.270-47438C>G",
          "hgvs_p": null,
          "transcript": "ENST00000515175.6",
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          "transcript_support_level": 3,
          "aa_start": null,
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          "aa_length": 104,
          "cds_start": -4,
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          "cdna_start": null,
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          "feature": null
        },
        {
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          "intron_rank": 3,
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          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "c.147-19520C>G",
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          "transcript": "ENST00000502524.5",
          "protein_id": "ENSP00000426243.1",
          "transcript_support_level": 3,
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          "aa_length": 76,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "feature": null
        },
        {
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          ],
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          "gene_symbol": "PARP8",
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          "hgvs_c": "c.147-14105C>G",
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        {
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "n.92-19520C>G",
          "hgvs_p": null,
          "transcript": "ENST00000503193.5",
          "protein_id": "ENSP00000424916.1",
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        },
        {
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          "canonical": false,
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          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "n.147-19520C>G",
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          "transcript": "ENST00000503707.6",
          "protein_id": "ENSP00000426679.2",
          "transcript_support_level": 4,
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          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 3,
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          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "n.329-19520C>G",
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          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "n.92-19520C>G",
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          "transcript": "ENST00000503888.5",
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        {
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          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": 1,
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          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "n.243-19520C>G",
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          "cdna_start": null,
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          "cdna_length": 521,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PARP8",
          "gene_hgnc_id": 26124,
          "hgvs_c": "n.147-29012C>G",
          "hgvs_p": null,
          "transcript": "ENST00000507812.5",
          "protein_id": "ENSP00000422183.1",
          "transcript_support_level": 4,
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}