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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: 22-42126667-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42126667&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 42126667,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_000106.6",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "c.1401G>A",
          "hgvs_p": "p.Ser467Ser",
          "transcript": "NM_000106.6",
          "protein_id": "NP_000097.3",
          "transcript_support_level": null,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 1401,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000645361.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000106.6"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "c.1401G>A",
          "hgvs_p": "p.Ser467Ser",
          "transcript": "ENST00000645361.2",
          "protein_id": "ENSP00000496150.1",
          "transcript_support_level": null,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 1401,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000106.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000645361.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "c.1248G>A",
          "hgvs_p": "p.Ser416Ser",
          "transcript": "ENST00000359033.4",
          "protein_id": "ENSP00000351927.4",
          "transcript_support_level": 1,
          "aa_start": 416,
          "aa_end": null,
          "aa_length": 446,
          "cds_start": 1248,
          "cds_end": null,
          "cds_length": 1341,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000359033.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "n.*476G>A",
          "hgvs_p": null,
          "transcript": "ENST00000360124.10",
          "protein_id": "ENSP00000353241.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000360124.10"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "n.*476G>A",
          "hgvs_p": null,
          "transcript": "ENST00000360124.10",
          "protein_id": "ENSP00000353241.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000360124.10"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "c.1470G>A",
          "hgvs_p": "p.Ser490Ser",
          "transcript": "ENST00000852671.1",
          "protein_id": "ENSP00000522730.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 520,
          "cds_start": 1470,
          "cds_end": null,
          "cds_length": 1563,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852671.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "c.1452G>A",
          "hgvs_p": "p.Ser484Ser",
          "transcript": "ENST00000852679.1",
          "protein_id": "ENSP00000522738.1",
          "transcript_support_level": null,
          "aa_start": 484,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 1452,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852679.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "c.1449G>A",
          "hgvs_p": "p.Ser483Ser",
          "transcript": "ENST00000852654.1",
          "protein_id": "ENSP00000522713.1",
          "transcript_support_level": null,
          "aa_start": 483,
          "aa_end": null,
          "aa_length": 513,
          "cds_start": 1449,
          "cds_end": null,
          "cds_length": 1542,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852654.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "c.1431G>A",
          "hgvs_p": "p.Ser477Ser",
          "transcript": "ENST00000852657.1",
          "protein_id": "ENSP00000522716.1",
          "transcript_support_level": null,
          "aa_start": 477,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 1431,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852657.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "c.1422G>A",
          "hgvs_p": "p.Ser474Ser",
          "transcript": "ENST00000852651.1",
          "protein_id": "ENSP00000522710.1",
          "transcript_support_level": null,
          "aa_start": 474,
          "aa_end": null,
          "aa_length": 504,
          "cds_start": 1422,
          "cds_end": null,
          "cds_length": 1515,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852651.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "c.1416G>A",
          "hgvs_p": "p.Ser472Ser",
          "transcript": "ENST00000852661.1",
          "protein_id": "ENSP00000522720.1",
          "transcript_support_level": null,
          "aa_start": 472,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": 1416,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852661.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "c.1407G>A",
          "hgvs_p": "p.Ser469Ser",
          "transcript": "ENST00000852665.1",
          "protein_id": "ENSP00000522724.1",
          "transcript_support_level": null,
          "aa_start": 469,
          "aa_end": null,
          "aa_length": 499,
          "cds_start": 1407,
          "cds_end": null,
          "cds_length": 1500,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852665.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "c.1398G>A",
          "hgvs_p": "p.Ser466Ser",
          "transcript": "ENST00000852660.1",
          "protein_id": "ENSP00000522719.1",
          "transcript_support_level": null,
          "aa_start": 466,
          "aa_end": null,
          "aa_length": 496,
          "cds_start": 1398,
          "cds_end": null,
          "cds_length": 1491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852660.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "c.1395G>A",
          "hgvs_p": "p.Ser465Ser",
          "transcript": "ENST00000852674.1",
          "protein_id": "ENSP00000522733.1",
          "transcript_support_level": null,
          "aa_start": 465,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": 1395,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852674.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "c.1389G>A",
          "hgvs_p": "p.Ser463Ser",
          "transcript": "ENST00000852666.1",
          "protein_id": "ENSP00000522725.1",
          "transcript_support_level": null,
          "aa_start": 463,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": 1389,
          "cds_end": null,
          "cds_length": 1482,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852666.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "c.1374G>A",
          "hgvs_p": "p.Ser458Ser",
          "transcript": "ENST00000852675.1",
          "protein_id": "ENSP00000522734.1",
          "transcript_support_level": null,
          "aa_start": 458,
          "aa_end": null,
          "aa_length": 488,
          "cds_start": 1374,
          "cds_end": null,
          "cds_length": 1467,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852675.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "c.1368G>A",
          "hgvs_p": "p.Ser456Ser",
          "transcript": "ENST00000963586.1",
          "protein_id": "ENSP00000633645.1",
          "transcript_support_level": null,
          "aa_start": 456,
          "aa_end": null,
          "aa_length": 486,
          "cds_start": 1368,
          "cds_end": null,
          "cds_length": 1461,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963586.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "c.1365G>A",
          "hgvs_p": "p.Ser455Ser",
          "transcript": "ENST00000852678.1",
          "protein_id": "ENSP00000522737.1",
          "transcript_support_level": null,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 485,
          "cds_start": 1365,
          "cds_end": null,
          "cds_length": 1458,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852678.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "c.1362G>A",
          "hgvs_p": "p.Ser454Ser",
          "transcript": "ENST00000852676.1",
          "protein_id": "ENSP00000522735.1",
          "transcript_support_level": null,
          "aa_start": 454,
          "aa_end": null,
          "aa_length": 484,
          "cds_start": 1362,
          "cds_end": null,
          "cds_length": 1455,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852676.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2D6",
          "gene_hgnc_id": 2625,
          "hgvs_c": "c.1317G>A",
          "hgvs_p": "p.Ser439Ser",
          "transcript": "ENST00000852662.1",
          "protein_id": "ENSP00000522721.1",
          "transcript_support_level": null,
          "aa_start": 439,
          "aa_end": null,
          "aa_length": 469,
          "cds_start": 1317,
          "cds_end": null,
          "cds_length": 1410,
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      "clinvar_disease": "Tramadol response",
      "clinvar_classification": "drug response",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "Tramadol response",
      "pathogenicity_classification_combined": "drug response",
      "custom_annotations": null
    }
  ],
  "message": null
}