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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: 1-236537507-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236537507&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 236537507,
      "ref": "T",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000366584.9",
      "consequences": [
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LGALS8",
          "gene_hgnc_id": 6569,
          "hgvs_c": "c.56T>A",
          "hgvs_p": "p.Phe19Tyr",
          "transcript": "NM_201544.4",
          "protein_id": "NP_963838.1",
          "transcript_support_level": null,
          "aa_start": 19,
          "aa_end": null,
          "aa_length": 317,
          "cds_start": 56,
          "cds_end": null,
          "cds_length": 954,
          "cdna_start": 239,
          "cdna_end": null,
          "cdna_length": 5957,
          "mane_select": "ENST00000366584.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LGALS8",
          "gene_hgnc_id": 6569,
          "hgvs_c": "c.56T>A",
          "hgvs_p": "p.Phe19Tyr",
          "transcript": "ENST00000366584.9",
          "protein_id": "ENSP00000355543.4",
          "transcript_support_level": 1,
          "aa_start": 19,
          "aa_end": null,
          "aa_length": 317,
          "cds_start": 56,
          "cds_end": null,
          "cds_length": 954,
          "cdna_start": 239,
          "cdna_end": null,
          "cdna_length": 5957,
          "mane_select": "NM_201544.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LGALS8",
          "gene_hgnc_id": 6569,
          "hgvs_c": "c.56T>A",
          "hgvs_p": "p.Phe19Tyr",
          "transcript": "ENST00000450372.6",
          "protein_id": "ENSP00000408657.2",
          "transcript_support_level": 1,
          "aa_start": 19,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": 56,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": 437,
          "cdna_end": null,
          "cdna_length": 6281,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LGALS8",
          "gene_hgnc_id": 6569,
          "hgvs_c": "c.56T>A",
          "hgvs_p": "p.Phe19Tyr",
          "transcript": "ENST00000341872.10",
          "protein_id": "ENSP00000342139.6",
          "transcript_support_level": 1,
          "aa_start": 19,
          "aa_end": null,
          "aa_length": 317,
          "cds_start": 56,
          "cds_end": null,
          "cds_length": 954,
          "cdna_start": 437,
          "cdna_end": null,
          "cdna_length": 2437,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LGALS8",
          "gene_hgnc_id": 6569,
          "hgvs_c": "c.56T>A",
          "hgvs_p": "p.Phe19Tyr",
          "transcript": "ENST00000525042.1",
          "protein_id": "ENSP00000431884.1",
          "transcript_support_level": 1,
          "aa_start": 19,
          "aa_end": null,
          "aa_length": 300,
          "cds_start": 56,
          "cds_end": null,
          "cds_length": 903,
          "cdna_start": 56,
          "cdna_end": null,
          "cdna_length": 903,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LGALS8",
          "gene_hgnc_id": 6569,
          "hgvs_c": "c.56T>A",
          "hgvs_p": "p.Phe19Tyr",
          "transcript": "NM_006499.5",
          "protein_id": "NP_006490.3",
          "transcript_support_level": null,
          "aa_start": 19,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": 56,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": 278,
          "cdna_end": null,
          "cdna_length": 6122,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LGALS8",
          "gene_hgnc_id": 6569,
          "hgvs_c": "c.56T>A",
          "hgvs_p": "p.Phe19Tyr",
          "transcript": "NM_201545.2",
          "protein_id": "NP_963839.1",
          "transcript_support_level": null,
          "aa_start": 19,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": 56,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": 307,
          "cdna_end": null,
          "cdna_length": 6151,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LGALS8",
          "gene_hgnc_id": 6569,
          "hgvs_c": "c.56T>A",
          "hgvs_p": "p.Phe19Tyr",
          "transcript": "ENST00000352231.6",
          "protein_id": "ENSP00000309576.2",
          "transcript_support_level": 2,
          "aa_start": 19,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": 56,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": 256,
          "cdna_end": null,
          "cdna_length": 1402,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LGALS8",
          "gene_hgnc_id": 6569,
          "hgvs_c": "c.56T>A",
          "hgvs_p": "p.Phe19Tyr",
          "transcript": "ENST00000526589.5",
          "protein_id": "ENSP00000435460.1",
          "transcript_support_level": 5,
          "aa_start": 19,
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          "aa_length": 359,
          "cds_start": 56,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": 576,
          "cdna_end": null,
          "cdna_length": 6420,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
          "aa_ref": "F",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
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          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "LGALS8",
          "gene_hgnc_id": 6569,
          "hgvs_c": "c.56T>A",
          "hgvs_p": "p.Phe19Tyr",
          "transcript": "ENST00000527974.5",
          "protein_id": "ENSP00000431398.1",
          "transcript_support_level": 5,
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          "aa_end": null,
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          "cds_start": 56,
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          "cdna_start": 205,
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          "cdna_length": 1349,
          "mane_select": null,
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        {
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          "hgvs_c": "c.56T>A",
          "hgvs_p": "p.Phe19Tyr",
          "transcript": "NM_201543.4",
          "protein_id": "NP_963837.1",
          "transcript_support_level": null,
          "aa_start": 19,
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          "cds_start": 56,
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          "mane_select": null,
          "mane_plus": null,
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        {
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          "consequences": [
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          "gene_symbol": "LGALS8",
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        {
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          "hgvs_c": "c.56T>A",
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          "transcript": "ENST00000323938.10",
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        {
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        {
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        {
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          "gene_symbol": "LGALS8",
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          "transcript": "ENST00000529489.5",
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        },
        {
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "LGALS8",
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          "hgvs_c": "c.56T>A",
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      "clinvar_disease": "",
      "clinvar_classification": "",
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      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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  "message": null
}