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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: 6-87520236-CT-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=87520236&ref=CT&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 87520236,
      "ref": "CT",
      "alt": "C",
      "effect": "frameshift_variant",
      "transcript": "NM_020320.5",
      "consequences": [
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.1055delA",
          "hgvs_p": "p.Lys352fs",
          "transcript": "NM_020320.5",
          "protein_id": "NP_064716.2",
          "transcript_support_level": null,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 578,
          "cds_start": 1055,
          "cds_end": null,
          "cds_length": 1737,
          "cdna_start": 1085,
          "cdna_end": null,
          "cdna_length": 2242,
          "mane_select": "ENST00000369536.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.1055delA",
          "hgvs_p": "p.Lys352fs",
          "transcript": "ENST00000369536.10",
          "protein_id": "ENSP00000358549.5",
          "transcript_support_level": 1,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 578,
          "cds_start": 1055,
          "cds_end": null,
          "cds_length": 1737,
          "cdna_start": 1085,
          "cdna_end": null,
          "cdna_length": 2242,
          "mane_select": "NM_020320.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.1055delA",
          "hgvs_p": "p.Lys352fs",
          "transcript": "ENST00000687437.1",
          "protein_id": "ENSP00000508968.1",
          "transcript_support_level": null,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": 1055,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": 1113,
          "cdna_end": null,
          "cdna_length": 1885,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.1055delA",
          "hgvs_p": "p.Lys352fs",
          "transcript": "NM_001350505.2",
          "protein_id": "NP_001337434.1",
          "transcript_support_level": null,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 588,
          "cds_start": 1055,
          "cds_end": null,
          "cds_length": 1767,
          "cdna_start": 1085,
          "cdna_end": null,
          "cdna_length": 2123,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.1055delA",
          "hgvs_p": "p.Lys352fs",
          "transcript": "ENST00000691725.1",
          "protein_id": "ENSP00000509453.1",
          "transcript_support_level": null,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 588,
          "cds_start": 1055,
          "cds_end": null,
          "cds_length": 1767,
          "cdna_start": 1126,
          "cdna_end": null,
          "cdna_length": 2339,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.530delA",
          "hgvs_p": "p.Lys177fs",
          "transcript": "ENST00000451155.2",
          "protein_id": "ENSP00000389656.2",
          "transcript_support_level": 3,
          "aa_start": 177,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 530,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1350,
          "cdna_end": null,
          "cdna_length": 2148,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.530delA",
          "hgvs_p": "p.Lys177fs",
          "transcript": "NM_001350506.2",
          "protein_id": "NP_001337435.1",
          "transcript_support_level": null,
          "aa_start": 177,
          "aa_end": null,
          "aa_length": 413,
          "cds_start": 530,
          "cds_end": null,
          "cds_length": 1242,
          "cdna_start": 1306,
          "cdna_end": null,
          "cdna_length": 2344,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.530delA",
          "hgvs_p": "p.Lys177fs",
          "transcript": "ENST00000693431.1",
          "protein_id": "ENSP00000509147.1",
          "transcript_support_level": null,
          "aa_start": 177,
          "aa_end": null,
          "aa_length": 413,
          "cds_start": 530,
          "cds_end": null,
          "cds_length": 1242,
          "cdna_start": 1331,
          "cdna_end": null,
          "cdna_length": 2361,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.530delA",
          "hgvs_p": "p.Lys177fs",
          "transcript": "NM_001318785.2",
          "protein_id": "NP_001305714.1",
          "transcript_support_level": null,
          "aa_start": 177,
          "aa_end": null,
          "aa_length": 403,
          "cds_start": 530,
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          "cdna_start": 1250,
          "cdna_end": null,
          "cdna_length": 2407,
          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.530delA",
          "hgvs_p": "p.Lys177fs",
          "transcript": "NM_001350507.2",
          "protein_id": "NP_001337436.1",
          "transcript_support_level": null,
          "aa_start": 177,
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          "cds_start": 530,
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          "cdna_start": 1429,
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          "intron_rank": null,
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          "protein_id": "NP_001337437.1",
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          "cdna_start": 1468,
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        {
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          "canonical": false,
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          "intron_rank": null,
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          "gene_symbol": "RARS2",
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          "gene_symbol": "RARS2",
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          "gene_symbol": "RARS2",
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        {
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          "hgvs_c": "c.116delA",
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        },
        {
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            "frameshift_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "RARS2",
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          "transcript": "ENST00000689206.1",
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}