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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: 1-40754047-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=40754047&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 40754047,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_014223.5",
      "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": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NFYC",
          "gene_hgnc_id": 7806,
          "hgvs_c": "c.387+801G>A",
          "hgvs_p": null,
          "transcript": "NM_014223.5",
          "protein_id": "NP_055038.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1955,
          "mane_select": "ENST00000447388.8",
          "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": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NFYC",
          "gene_hgnc_id": 7806,
          "hgvs_c": "c.387+801G>A",
          "hgvs_p": null,
          "transcript": "ENST00000447388.8",
          "protein_id": "ENSP00000404427.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1955,
          "mane_select": "NM_014223.5",
          "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": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NFYC",
          "gene_hgnc_id": 7806,
          "hgvs_c": "c.387+801G>A",
          "hgvs_p": null,
          "transcript": "ENST00000308733.9",
          "protein_id": "ENSP00000312617.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 458,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1377,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2158,
          "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": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NFYC",
          "gene_hgnc_id": 7806,
          "hgvs_c": "c.387+801G>A",
          "hgvs_p": null,
          "transcript": "ENST00000372654.5",
          "protein_id": "ENSP00000361738.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1455,
          "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": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NFYC",
          "gene_hgnc_id": 7806,
          "hgvs_c": "c.387+801G>A",
          "hgvs_p": null,
          "transcript": "ENST00000456393.6",
          "protein_id": "ENSP00000408867.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1911,
          "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": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NFYC",
          "gene_hgnc_id": 7806,
          "hgvs_c": "c.387+801G>A",
          "hgvs_p": null,
          "transcript": "NM_001308114.1",
          "protein_id": "NP_001295043.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 458,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1377,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2160,
          "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": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NFYC",
          "gene_hgnc_id": 7806,
          "hgvs_c": "c.387+801G>A",
          "hgvs_p": null,
          "transcript": "NM_001308115.2",
          "protein_id": "NP_001295044.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 439,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1320,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2354,
          "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": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NFYC",
          "gene_hgnc_id": 7806,
          "hgvs_c": "c.387+801G>A",
          "hgvs_p": null,
          "transcript": "ENST00000372652.5",
          "protein_id": "ENSP00000361736.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 439,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1320,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2363,
          "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NFYC",
          "gene_hgnc_id": 7806,
          "hgvs_c": "c.387+801G>A",
          "hgvs_p": null,
          "transcript": "NM_001142588.2",
          "protein_id": "NP_001136060.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 354,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1065,
          "cdna_start": null,
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          "cdna_length": 2012,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NFYC",
          "gene_hgnc_id": 7806,
          "hgvs_c": "c.387+801G>A",
          "hgvs_p": null,
          "transcript": "ENST00000425457.6",
          "protein_id": "ENSP00000396620.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 354,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
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        {
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          "canonical": false,
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          "gene_symbol": "NFYC",
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          "hgvs_c": "c.387+801G>A",
          "hgvs_p": null,
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          "aa_start": null,
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          "cds_start": -4,
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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": "NFYC",
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          "hgvs_c": "c.387+801G>A",
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          "transcript": "ENST00000440226.7",
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          "gene_symbol": "NFYC",
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          "hgvs_c": "c.387+801G>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
}