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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: 6-111674463-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=111674463&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 111674463,
      "ref": "A",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000354650.7",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1405+36T>G",
          "hgvs_p": null,
          "transcript": "NM_002037.5",
          "protein_id": "NP_002028.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 537,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1614,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3628,
          "mane_select": "ENST00000354650.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1405+36T>G",
          "hgvs_p": null,
          "transcript": "ENST00000354650.7",
          "protein_id": "ENSP00000346671.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 537,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1614,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3628,
          "mane_select": "NM_002037.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1240+36T>G",
          "hgvs_p": null,
          "transcript": "ENST00000229471.8",
          "protein_id": "ENSP00000229471.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 482,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1449,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2009,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1405+36T>G",
          "hgvs_p": null,
          "transcript": "NM_001370529.1",
          "protein_id": "NP_001357458.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 537,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1614,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3105,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1405+36T>G",
          "hgvs_p": null,
          "transcript": "ENST00000368667.6",
          "protein_id": "ENSP00000357656.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 537,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1614,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2416,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1396+36T>G",
          "hgvs_p": null,
          "transcript": "NM_153047.4",
          "protein_id": "NP_694592.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 534,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1605,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3238,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1396+36T>G",
          "hgvs_p": null,
          "transcript": "ENST00000368678.8",
          "protein_id": "ENSP00000357667.4",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 534,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1605,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2573,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1396+36T>G",
          "hgvs_p": null,
          "transcript": "ENST00000368682.8",
          "protein_id": "ENSP00000357671.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 534,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1605,
          "cdna_start": null,
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          "cdna_length": 3619,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1240+36T>G",
          "hgvs_p": null,
          "transcript": "NM_153048.4",
          "protein_id": "NP_694593.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 482,
          "cds_start": -4,
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          "cds_length": 1449,
          "cdna_start": null,
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          "cdna_length": 2909,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "n.611+36T>G",
          "hgvs_p": null,
          "transcript": "ENST00000467921.6",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "consequences": [
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          "gene_symbol": "FYN",
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "gene_symbol": "FYN",
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          "hgvs_c": "c.1405+36T>G",
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          "verdict": "Likely_benign",
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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
}