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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: 5-143399752-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=143399752&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 143399752,
      "ref": "T",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000394464.7",
      "consequences": [
        {
          "aa_ref": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR3C1",
          "gene_hgnc_id": 7978,
          "hgvs_c": "c.1088A>T",
          "hgvs_p": "p.Asn363Ile",
          "transcript": "NM_000176.3",
          "protein_id": "NP_000167.1",
          "transcript_support_level": null,
          "aa_start": 363,
          "aa_end": null,
          "aa_length": 777,
          "cds_start": 1088,
          "cds_end": null,
          "cds_length": 2334,
          "cdna_start": 1577,
          "cdna_end": null,
          "cdna_length": 6778,
          "mane_select": "ENST00000394464.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR3C1",
          "gene_hgnc_id": 7978,
          "hgvs_c": "c.1088A>T",
          "hgvs_p": "p.Asn363Ile",
          "transcript": "ENST00000394464.7",
          "protein_id": "ENSP00000377977.2",
          "transcript_support_level": 1,
          "aa_start": 363,
          "aa_end": null,
          "aa_length": 777,
          "cds_start": 1088,
          "cds_end": null,
          "cds_length": 2334,
          "cdna_start": 1577,
          "cdna_end": null,
          "cdna_length": 6778,
          "mane_select": "NM_000176.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR3C1",
          "gene_hgnc_id": 7978,
          "hgvs_c": "c.1088A>T",
          "hgvs_p": "p.Asn363Ile",
          "transcript": "ENST00000231509.7",
          "protein_id": "ENSP00000231509.3",
          "transcript_support_level": 1,
          "aa_start": 363,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": 1088,
          "cds_end": null,
          "cds_length": 2337,
          "cdna_start": 1580,
          "cdna_end": null,
          "cdna_length": 3556,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR3C1",
          "gene_hgnc_id": 7978,
          "hgvs_c": "c.1088A>T",
          "hgvs_p": "p.Asn363Ile",
          "transcript": "ENST00000504572.5",
          "protein_id": "ENSP00000422518.1",
          "transcript_support_level": 1,
          "aa_start": 363,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": 1088,
          "cds_end": null,
          "cds_length": 2337,
          "cdna_start": 1371,
          "cdna_end": null,
          "cdna_length": 3389,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR3C1",
          "gene_hgnc_id": 7978,
          "hgvs_c": "c.1088A>T",
          "hgvs_p": "p.Asn363Ile",
          "transcript": "ENST00000503201.1",
          "protein_id": "ENSP00000427672.1",
          "transcript_support_level": 1,
          "aa_start": 363,
          "aa_end": null,
          "aa_length": 777,
          "cds_start": 1088,
          "cds_end": null,
          "cds_length": 2334,
          "cdna_start": 1270,
          "cdna_end": null,
          "cdna_length": 2594,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR3C1",
          "gene_hgnc_id": 7978,
          "hgvs_c": "c.1010A>T",
          "hgvs_p": "p.Asn337Ile",
          "transcript": "ENST00000424646.6",
          "protein_id": "ENSP00000405282.2",
          "transcript_support_level": 1,
          "aa_start": 337,
          "aa_end": null,
          "aa_length": 751,
          "cds_start": 1010,
          "cds_end": null,
          "cds_length": 2256,
          "cdna_start": 1023,
          "cdna_end": null,
          "cdna_length": 4591,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR3C1",
          "gene_hgnc_id": 7978,
          "hgvs_c": "c.1088A>T",
          "hgvs_p": "p.Asn363Ile",
          "transcript": "ENST00000415690.6",
          "protein_id": "ENSP00000387672.2",
          "transcript_support_level": 1,
          "aa_start": 363,
          "aa_end": null,
          "aa_length": 742,
          "cds_start": 1088,
          "cds_end": null,
          "cds_length": 2229,
          "cdna_start": 1220,
          "cdna_end": null,
          "cdna_length": 3789,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR3C1",
          "gene_hgnc_id": 7978,
          "hgvs_c": "c.1088A>T",
          "hgvs_p": "p.Asn363Ile",
          "transcript": "NM_001024094.2",
          "protein_id": "NP_001019265.1",
          "transcript_support_level": null,
          "aa_start": 363,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": 1088,
          "cds_end": null,
          "cds_length": 2337,
          "cdna_start": 1577,
          "cdna_end": null,
          "cdna_length": 6781,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "NR3C1",
          "gene_hgnc_id": 7978,
          "hgvs_c": "c.1088A>T",
          "hgvs_p": "p.Asn363Ile",
          "transcript": "NM_001364183.2",
          "protein_id": "NP_001351112.1",
          "transcript_support_level": null,
          "aa_start": 363,
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          "cds_start": 1088,
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          "cdna_start": 1478,
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        {
          "aa_ref": "N",
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          ],
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          "exon_rank_end": null,
          "exon_count": 9,
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          "gene_symbol": "NR3C1",
          "gene_hgnc_id": 7978,
          "hgvs_c": "c.1088A>T",
          "hgvs_p": "p.Asn363Ile",
          "transcript": "NM_001364184.2",
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        {
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          "gene_symbol": "NR3C1",
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          "transcript": "ENST00000343796.6",
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        {
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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
}