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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: 8-22505519-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=22505519&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 22505519,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_001243974.2",
      "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": 14,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PPP3CC",
          "gene_hgnc_id": 9316,
          "hgvs_c": "c.485-5567C>T",
          "hgvs_p": null,
          "transcript": "NM_005605.5",
          "protein_id": "NP_005596.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1539,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000240139.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005605.5"
        },
        {
          "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": 14,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PPP3CC",
          "gene_hgnc_id": 9316,
          "hgvs_c": "c.485-5567C>T",
          "hgvs_p": null,
          "transcript": "ENST00000240139.10",
          "protein_id": "ENSP00000240139.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1539,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_005605.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000240139.10"
        },
        {
          "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": 13,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PPP3CC",
          "gene_hgnc_id": 9316,
          "hgvs_c": "c.485-5567C>T",
          "hgvs_p": null,
          "transcript": "ENST00000289963.12",
          "protein_id": "ENSP00000289963.8",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000289963.12"
        },
        {
          "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": 14,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PPP3CC",
          "gene_hgnc_id": 9316,
          "hgvs_c": "c.485-5567C>T",
          "hgvs_p": null,
          "transcript": "ENST00000968566.1",
          "protein_id": "ENSP00000638625.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 540,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1623,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000968566.1"
        },
        {
          "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": 15,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PPP3CC",
          "gene_hgnc_id": 9316,
          "hgvs_c": "c.536-5567C>T",
          "hgvs_p": null,
          "transcript": "ENST00000898953.1",
          "protein_id": "ENSP00000569012.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898953.1"
        },
        {
          "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": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PPP3CC",
          "gene_hgnc_id": 9316,
          "hgvs_c": "c.485-5567C>T",
          "hgvs_p": null,
          "transcript": "NM_001243974.2",
          "protein_id": "NP_001230903.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 521,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1566,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001243974.2"
        },
        {
          "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": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PPP3CC",
          "gene_hgnc_id": 9316,
          "hgvs_c": "c.485-5567C>T",
          "hgvs_p": null,
          "transcript": "ENST00000397775.7",
          "protein_id": "ENSP00000380878.3",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 521,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1566,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000397775.7"
        },
        {
          "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": 14,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PPP3CC",
          "gene_hgnc_id": 9316,
          "hgvs_c": "c.536-5567C>T",
          "hgvs_p": null,
          "transcript": "ENST00000898949.1",
          "protein_id": "ENSP00000569008.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898949.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PPP3CC",
          "gene_hgnc_id": 9316,
          "hgvs_c": "c.485-5567C>T",
          "hgvs_p": null,
          "transcript": "ENST00000968572.1",
          "protein_id": "ENSP00000638631.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000968572.1"
        },
        {
          "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": 14,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PPP3CC",
          "gene_hgnc_id": 9316,
          "hgvs_c": "c.485-5567C>T",
          "hgvs_p": null,
          "transcript": "ENST00000968565.1",
          "protein_id": "ENSP00000638624.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 511,
          "cds_start": null,
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          "cdna_start": null,
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        {
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          "intron_rank": 4,
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          "gene_symbol": "PPP3CC",
          "gene_hgnc_id": 9316,
          "hgvs_c": "c.485-5567C>T",
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          "transcript": "ENST00000968574.1",
          "protein_id": "ENSP00000638633.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 507,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "gene_symbol": "PPP3CC",
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        {
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        {
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          "gene_symbol": "PPP3CC",
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          "transcript": "ENST00000968569.1",
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        {
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          "intron_rank": 4,
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          "gene_symbol": "PPP3CC",
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          "gene_symbol": "PPP3CC",
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          "gene_symbol": "PPP3CC",
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          "hgvs_c": "c.373-5650C>T",
          "hgvs_p": null,
          "transcript": "ENST00000968567.1",
          "protein_id": "ENSP00000638626.1",
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