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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: 17-59912499-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=59912499&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 59912499,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000225577.9",
      "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KB1",
          "gene_hgnc_id": 10436,
          "hgvs_c": "c.192-185G>C",
          "hgvs_p": null,
          "transcript": "NM_003161.4",
          "protein_id": "NP_003152.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5428,
          "mane_select": "ENST00000225577.9",
          "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": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KB1",
          "gene_hgnc_id": 10436,
          "hgvs_c": "c.192-185G>C",
          "hgvs_p": null,
          "transcript": "ENST00000225577.9",
          "protein_id": "ENSP00000225577.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5428,
          "mane_select": "NM_003161.4",
          "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": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KB1",
          "gene_hgnc_id": 10436,
          "hgvs_c": "c.192-185G>C",
          "hgvs_p": null,
          "transcript": "ENST00000406116.7",
          "protein_id": "ENSP00000384335.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1982,
          "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": 14,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KB1",
          "gene_hgnc_id": 10436,
          "hgvs_c": "c.192-185G>C",
          "hgvs_p": null,
          "transcript": "NM_001272042.2",
          "protein_id": "NP_001258971.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5359,
          "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": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KB1",
          "gene_hgnc_id": 10436,
          "hgvs_c": "c.123-185G>C",
          "hgvs_p": null,
          "transcript": "NM_001272060.2",
          "protein_id": "NP_001258989.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5428,
          "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": 14,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KB1",
          "gene_hgnc_id": 10436,
          "hgvs_c": "c.192-185G>C",
          "hgvs_p": null,
          "transcript": "ENST00000443572.6",
          "protein_id": "ENSP00000441993.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1913,
          "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": 14,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KB1",
          "gene_hgnc_id": 10436,
          "hgvs_c": "c.192-185G>C",
          "hgvs_p": null,
          "transcript": "NM_001369669.1",
          "protein_id": "NP_001356598.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 489,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1470,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5320,
          "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": 16,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KB1",
          "gene_hgnc_id": 10436,
          "hgvs_c": "c.33-185G>C",
          "hgvs_p": null,
          "transcript": "NM_001272044.2",
          "protein_id": "NP_001258973.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 472,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1419,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5557,
          "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": 16,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KB1",
          "gene_hgnc_id": 10436,
          "hgvs_c": "c.33-185G>C",
          "hgvs_p": null,
          "transcript": "ENST00000393021.7",
          "protein_id": "ENSP00000376744.3",
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": 472,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 5479,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KB1",
          "gene_hgnc_id": 10436,
          "hgvs_c": "c.192-185G>C",
          "hgvs_p": null,
          "transcript": "NM_001272043.2",
          "protein_id": "NP_001258972.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 451,
          "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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          "gene_symbol": "RPS6KB1",
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          "transcript": "NM_001369670.1",
          "protein_id": "NP_001356599.1",
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          "cds_start": -4,
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        {
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          "canonical": false,
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          "intron_rank": 1,
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          "gene_symbol": "RPS6KB1",
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          "hgvs_c": "c.33-185G>C",
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          "gene_symbol": "RPS6KB1",
          "gene_hgnc_id": 10436,
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        {
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          "hgvs_c": "c.192-185G>C",
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          "gene_symbol": "RPS6KB1",
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        {
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          "hgvs_c": "c.192-185G>C",
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        },
        {
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          ],
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          "intron_rank_end": null,
          "gene_symbol": "RPS6KB1",
          "gene_hgnc_id": 10436,
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          "transcript": "ENST00000592726.1",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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  "message": null
}