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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: 11-64219313-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64219313&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 64219313,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000345728.10",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.849G>A",
          "hgvs_p": "p.Glu283Glu",
          "transcript": "NM_031471.6",
          "protein_id": "NP_113659.3",
          "transcript_support_level": null,
          "aa_start": 283,
          "aa_end": null,
          "aa_length": 663,
          "cds_start": 849,
          "cds_end": null,
          "cds_length": 1992,
          "cdna_start": 957,
          "cdna_end": null,
          "cdna_length": 2499,
          "mane_select": "ENST00000345728.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.849G>A",
          "hgvs_p": "p.Glu283Glu",
          "transcript": "ENST00000345728.10",
          "protein_id": "ENSP00000339950.5",
          "transcript_support_level": 1,
          "aa_start": 283,
          "aa_end": null,
          "aa_length": 663,
          "cds_start": 849,
          "cds_end": null,
          "cds_length": 1992,
          "cdna_start": 957,
          "cdna_end": null,
          "cdna_length": 2499,
          "mane_select": "NM_031471.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.849G>A",
          "hgvs_p": "p.Glu283Glu",
          "transcript": "ENST00000279227.10",
          "protein_id": "ENSP00000279227.5",
          "transcript_support_level": 1,
          "aa_start": 283,
          "aa_end": null,
          "aa_length": 667,
          "cds_start": 849,
          "cds_end": null,
          "cds_length": 2004,
          "cdna_start": 1008,
          "cdna_end": null,
          "cdna_length": 2562,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.870G>A",
          "hgvs_p": "p.Glu290Glu",
          "transcript": "ENST00000698865.1",
          "protein_id": "ENSP00000513992.1",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 670,
          "cds_start": 870,
          "cds_end": null,
          "cds_length": 2013,
          "cdna_start": 976,
          "cdna_end": null,
          "cdna_length": 2502,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.849G>A",
          "hgvs_p": "p.Glu283Glu",
          "transcript": "NM_001382362.1",
          "protein_id": "NP_001369291.1",
          "transcript_support_level": null,
          "aa_start": 283,
          "aa_end": null,
          "aa_length": 667,
          "cds_start": 849,
          "cds_end": null,
          "cds_length": 2004,
          "cdna_start": 954,
          "cdna_end": null,
          "cdna_length": 2508,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.849G>A",
          "hgvs_p": "p.Glu283Glu",
          "transcript": "NM_178443.3",
          "protein_id": "NP_848537.1",
          "transcript_support_level": null,
          "aa_start": 283,
          "aa_end": null,
          "aa_length": 667,
          "cds_start": 849,
          "cds_end": null,
          "cds_length": 2004,
          "cdna_start": 957,
          "cdna_end": null,
          "cdna_length": 2511,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.849G>A",
          "hgvs_p": "p.Glu283Glu",
          "transcript": "ENST00000698860.1",
          "protein_id": "ENSP00000513988.1",
          "transcript_support_level": null,
          "aa_start": 283,
          "aa_end": null,
          "aa_length": 667,
          "cds_start": 849,
          "cds_end": null,
          "cds_length": 2004,
          "cdna_start": 1005,
          "cdna_end": null,
          "cdna_length": 2558,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.849G>A",
          "hgvs_p": "p.Glu283Glu",
          "transcript": "NM_001382361.1",
          "protein_id": "NP_001369290.1",
          "transcript_support_level": null,
          "aa_start": 283,
          "aa_end": null,
          "aa_length": 663,
          "cds_start": 849,
          "cds_end": null,
          "cds_length": 1992,
          "cdna_start": 954,
          "cdna_end": null,
          "cdna_length": 2496,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.849G>A",
          "hgvs_p": "p.Glu283Glu",
          "transcript": "NM_001382448.1",
          "protein_id": "NP_001369377.1",
          "transcript_support_level": null,
          "aa_start": 283,
          "aa_end": null,
          "aa_length": 663,
          "cds_start": 849,
          "cds_end": null,
          "cds_length": 1992,
          "cdna_start": 1054,
          "cdna_end": null,
          "cdna_length": 2596,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.849G>A",
          "hgvs_p": "p.Glu283Glu",
          "transcript": "ENST00000544997.6",
          "protein_id": "ENSP00000445778.2",
          "transcript_support_level": 3,
          "aa_start": 283,
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          "cds_start": 849,
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          "cds_length": 1992,
          "cdna_start": 1043,
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          "mane_select": null,
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        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "FERMT3",
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          "hgvs_c": "c.849G>A",
          "hgvs_p": "p.Glu283Glu",
          "transcript": "ENST00000698852.1",
          "protein_id": "ENSP00000513984.1",
          "transcript_support_level": null,
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          "cds_start": 849,
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          "cdna_start": 2288,
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          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
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          "intron_rank": null,
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          "gene_symbol": "FERMT3",
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          "transcript": "ENST00000698861.1",
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        {
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          "strand": true,
          "consequences": [
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          ],
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          "hgvs_c": "c.849G>A",
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          "transcript": "ENST00000698863.1",
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        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 7,
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          "intron_rank": null,
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          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.849G>A",
          "hgvs_p": "p.Glu283Glu",
          "transcript": "ENST00000698870.1",
          "protein_id": "ENSP00000513996.1",
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        {
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.849G>A",
          "hgvs_p": "p.Glu283Glu",
          "transcript": "ENST00000698868.1",
          "protein_id": "ENSP00000513994.1",
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        {
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          "strand": true,
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          ],
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          "gene_symbol": "FERMT3",
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        },
        {
          "aa_ref": "E",
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          "canonical": false,
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          "hgvs_c": "c.309G>A",
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        {
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          ],
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          "gene_symbol": "FERMT3",
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          "hgvs_c": "c.309G>A",
          "hgvs_p": "p.Glu103Glu",
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        },
        {
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          "consequences": [
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          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.309G>A",
          "hgvs_p": "p.Glu103Glu",
          "transcript": "ENST00000541252.2",
          "protein_id": "ENSP00000438885.2",
          "transcript_support_level": 3,
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          "aa_end": null,
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          "cdna_start": 824,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  "message": null
}