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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: 3-20179220-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=20179220&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 20179220,
      "ref": "G",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000412997.6",
      "consequences": [
        {
          "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": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SGO1",
          "gene_hgnc_id": 25088,
          "hgvs_c": "c.340-873C>A",
          "hgvs_p": null,
          "transcript": "NM_001199251.3",
          "protein_id": "NP_001186180.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 527,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1584,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3070,
          "mane_select": "ENST00000412997.6",
          "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": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SGO1",
          "gene_hgnc_id": 25088,
          "hgvs_c": "c.340-873C>A",
          "hgvs_p": null,
          "transcript": "ENST00000412997.6",
          "protein_id": "ENSP00000410458.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 527,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1584,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3070,
          "mane_select": "NM_001199251.3",
          "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": 9,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SGO1",
          "gene_hgnc_id": 25088,
          "hgvs_c": "c.340-873C>A",
          "hgvs_p": null,
          "transcript": "ENST00000263753.8",
          "protein_id": "ENSP00000263753.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2338,
          "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": 9,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SGO1",
          "gene_hgnc_id": 25088,
          "hgvs_c": "c.340-873C>A",
          "hgvs_p": null,
          "transcript": "ENST00000421451.5",
          "protein_id": "ENSP00000414129.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1969,
          "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": 9,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SGO1",
          "gene_hgnc_id": 25088,
          "hgvs_c": "c.340-873C>A",
          "hgvs_p": null,
          "transcript": "ENST00000419233.6",
          "protein_id": "ENSP00000394625.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 309,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 930,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1582,
          "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": 9,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SGO1",
          "gene_hgnc_id": 25088,
          "hgvs_c": "c.340-873C>A",
          "hgvs_p": null,
          "transcript": "ENST00000425061.5",
          "protein_id": "ENSP00000414960.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 309,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 930,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1213,
          "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": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SGO1",
          "gene_hgnc_id": 25088,
          "hgvs_c": "c.340-873C>A",
          "hgvs_p": null,
          "transcript": "ENST00000306698.6",
          "protein_id": "ENSP00000306581.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 292,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 879,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1531,
          "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": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SGO1",
          "gene_hgnc_id": 25088,
          "hgvs_c": "c.340-873C>A",
          "hgvs_p": null,
          "transcript": "ENST00000452020.5",
          "protein_id": "ENSP00000411200.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 292,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 879,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1162,
          "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": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SGO1",
          "gene_hgnc_id": 25088,
          "hgvs_c": "c.340-873C>A",
          "hgvs_p": null,
          "transcript": "ENST00000417364.1",
          "protein_id": "ENSP00000394613.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 275,
          "cds_start": -4,
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          "cds_length": 828,
          "cdna_start": null,
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          "cdna_length": 1075,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SGO1",
          "gene_hgnc_id": 25088,
          "hgvs_c": "c.340-873C>A",
          "hgvs_p": null,
          "transcript": "ENST00000437051.5",
          "protein_id": "ENSP00000389034.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": 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,
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          "strand": false,
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          "exon_count": 7,
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          "gene_symbol": "SGO1",
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          "hgvs_c": "c.340-873C>A",
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          "aa_start": 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,
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          "gene_symbol": "SGO1",
          "gene_hgnc_id": 25088,
          "hgvs_c": "c.340-873C>A",
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          "gene_symbol": "SGO1",
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          "hgvs_c": "c.340-873C>A",
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          "transcript": "NM_001012410.5",
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        {
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          "hgvs_c": "c.340-873C>A",
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        {
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          "hgvs_c": "c.340-873C>A",
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