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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: 1-150067966-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150067966&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 150067966,
      "ref": "C",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_007259.5",
      "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": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "VPS45",
          "gene_hgnc_id": 14579,
          "hgvs_c": "c.93+16C>A",
          "hgvs_p": null,
          "transcript": "NM_007259.5",
          "protein_id": "NP_009190.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 570,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1713,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000644510.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_007259.5"
        },
        {
          "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": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "VPS45",
          "gene_hgnc_id": 14579,
          "hgvs_c": "c.93+16C>A",
          "hgvs_p": null,
          "transcript": "ENST00000644510.2",
          "protein_id": "ENSP00000495563.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 570,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1713,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_007259.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000644510.2"
        },
        {
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "VPS45",
          "gene_hgnc_id": 14579,
          "hgvs_c": "c.93+16C>A",
          "hgvs_p": null,
          "transcript": "ENST00000698584.1",
          "protein_id": "ENSP00000513813.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 651,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1956,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000698584.1"
        },
        {
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "VPS45",
          "gene_hgnc_id": 14579,
          "hgvs_c": "c.93+16C>A",
          "hgvs_p": null,
          "transcript": "ENST00000644526.2",
          "protein_id": "ENSP00000494363.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 643,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1932,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000644526.2"
        },
        {
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "VPS45",
          "gene_hgnc_id": 14579,
          "hgvs_c": "c.93+16C>A",
          "hgvs_p": null,
          "transcript": "ENST00000698580.1",
          "protein_id": "ENSP00000513809.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 595,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1788,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000698580.1"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "VPS45",
          "gene_hgnc_id": 14579,
          "hgvs_c": "c.93+16C>A",
          "hgvs_p": null,
          "transcript": "ENST00000900003.1",
          "protein_id": "ENSP00000570062.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 595,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1788,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000900003.1"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "VPS45",
          "gene_hgnc_id": 14579,
          "hgvs_c": "c.93+16C>A",
          "hgvs_p": null,
          "transcript": "ENST00000698582.1",
          "protein_id": "ENSP00000513811.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 582,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1749,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000698582.1"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "VPS45",
          "gene_hgnc_id": 14579,
          "hgvs_c": "c.93+16C>A",
          "hgvs_p": null,
          "transcript": "ENST00000698587.1",
          "protein_id": "ENSP00000513816.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 582,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1749,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000698587.1"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "VPS45",
          "gene_hgnc_id": 14579,
          "hgvs_c": "c.93+16C>A",
          "hgvs_p": null,
          "transcript": "ENST00000698598.1",
          "protein_id": "ENSP00000513825.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 582,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1749,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000698598.1"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "VPS45",
          "gene_hgnc_id": 14579,
          "hgvs_c": "c.93+16C>A",
          "hgvs_p": null,
          "transcript": "ENST00000698590.1",
          "protein_id": "ENSP00000513818.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 569,
          "cds_start": null,
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          "cds_length": 1710,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "gene_symbol": "VPS45",
          "gene_hgnc_id": 14579,
          "hgvs_c": "c.93+16C>A",
          "hgvs_p": null,
          "transcript": "ENST00000698581.1",
          "protein_id": "ENSP00000513810.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 548,
          "cds_start": null,
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          "cds_length": 1647,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "gene_symbol": "VPS45",
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          "cds_start": null,
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        {
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        {
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          "gene_symbol": "VPS45",
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          "hgvs_c": "c.93+16C>A",
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          "cds_start": null,
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        {
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        {
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          "gene_symbol": "VPS45",
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        {
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          "gene_symbol": "VPS45",
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        {
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          "intron_rank": 1,
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          "gene_symbol": "VPS45",
          "gene_hgnc_id": 14579,
          "hgvs_c": "c.93+16C>A",
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          "transcript": "ENST00000698528.1",
          "protein_id": "ENSP00000513777.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          ],
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      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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}