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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: 17-63704443-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63704443&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 63704443,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000336174.12",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.998G>C",
          "hgvs_p": "p.Arg333Pro",
          "transcript": "NM_001003787.4",
          "protein_id": "NP_001003787.1",
          "transcript_support_level": null,
          "aa_start": 333,
          "aa_end": null,
          "aa_length": 431,
          "cds_start": 998,
          "cds_end": null,
          "cds_length": 1296,
          "cdna_start": 1101,
          "cdna_end": null,
          "cdna_length": 2166,
          "mane_select": "ENST00000336174.12",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.998G>C",
          "hgvs_p": "p.Arg333Pro",
          "transcript": "ENST00000336174.12",
          "protein_id": "ENSP00000336655.6",
          "transcript_support_level": 1,
          "aa_start": 333,
          "aa_end": null,
          "aa_length": 431,
          "cds_start": 998,
          "cds_end": null,
          "cds_length": 1296,
          "cdna_start": 1101,
          "cdna_end": null,
          "cdna_length": 2166,
          "mane_select": "NM_001003787.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.824G>C",
          "hgvs_p": "p.Arg275Pro",
          "transcript": "ENST00000375840.9",
          "protein_id": "ENSP00000365000.4",
          "transcript_support_level": 1,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 373,
          "cds_start": 824,
          "cds_end": null,
          "cds_length": 1122,
          "cdna_start": 1147,
          "cdna_end": null,
          "cdna_length": 2209,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.887G>C",
          "hgvs_p": "p.Arg296Pro",
          "transcript": "ENST00000392950.9",
          "protein_id": "ENSP00000376677.4",
          "transcript_support_level": 1,
          "aa_start": 296,
          "aa_end": null,
          "aa_length": 348,
          "cds_start": 887,
          "cds_end": null,
          "cds_length": 1047,
          "cdna_start": 1177,
          "cdna_end": null,
          "cdna_length": 2778,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000125695",
          "gene_hgnc_id": null,
          "hgvs_c": "n.*912G>C",
          "hgvs_p": null,
          "transcript": "ENST00000580553.1",
          "protein_id": "ENSP00000464100.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2128,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.*436G>C",
          "hgvs_p": null,
          "transcript": "ENST00000245865.10",
          "protein_id": "ENSP00000245865.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 234,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 705,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2959,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000125695",
          "gene_hgnc_id": null,
          "hgvs_c": "n.*912G>C",
          "hgvs_p": null,
          "transcript": "ENST00000580553.1",
          "protein_id": "ENSP00000464100.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2128,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.974G>C",
          "hgvs_p": "p.Arg325Pro",
          "transcript": "NM_001363786.1",
          "protein_id": "NP_001350715.1",
          "transcript_support_level": null,
          "aa_start": 325,
          "aa_end": null,
          "aa_length": 423,
          "cds_start": 974,
          "cds_end": null,
          "cds_length": 1272,
          "cdna_start": 1264,
          "cdna_end": null,
          "cdna_length": 2329,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.998G>C",
          "hgvs_p": "p.Arg333Pro",
          "transcript": "ENST00000638193.1",
          "protein_id": "ENSP00000491928.1",
          "transcript_support_level": 5,
          "aa_start": 333,
          "aa_end": null,
          "aa_length": 403,
          "cds_start": 998,
          "cds_end": null,
          "cds_length": 1212,
          "cdna_start": 1101,
          "cdna_end": null,
          "cdna_length": 1342,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.911G>C",
          "hgvs_p": "p.Arg304Pro",
          "transcript": "NM_001363787.1",
          "protein_id": "NP_001350716.1",
          "transcript_support_level": null,
          "aa_start": 304,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": 911,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": 1201,
          "cdna_end": null,
          "cdna_length": 2266,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.911G>C",
          "hgvs_p": "p.Arg304Pro",
          "transcript": "ENST00000638708.1",
          "protein_id": "ENSP00000491580.1",
          "transcript_support_level": 2,
          "aa_start": 304,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": 911,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": 1075,
          "cdna_end": null,
          "cdna_length": 2153,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.887G>C",
          "hgvs_p": "p.Arg296Pro",
          "transcript": "NM_001003786.3",
          "protein_id": "NP_001003786.1",
          "transcript_support_level": null,
          "aa_start": 296,
          "aa_end": null,
          "aa_length": 394,
          "cds_start": 887,
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          "cdna_start": 1177,
          "cdna_end": null,
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          "mane_select": null,
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        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.887G>C",
          "hgvs_p": "p.Arg296Pro",
          "transcript": "ENST00000639835.1",
          "protein_id": "ENSP00000492578.1",
          "transcript_support_level": 2,
          "aa_start": 296,
          "aa_end": null,
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          "cds_start": 887,
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          "cdna_start": 1052,
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          "biotype": null,
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        },
        {
          "aa_ref": "R",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.887G>C",
          "hgvs_p": "p.Arg296Pro",
          "transcript": "ENST00000640999.1",
          "protein_id": "ENSP00000491643.1",
          "transcript_support_level": 5,
          "aa_start": 296,
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          "cds_start": 887,
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          "cds_length": 1185,
          "cdna_start": 1274,
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          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
          "aa_ref": "R",
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          "consequences": [
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          ],
          "exon_rank": 10,
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          "intron_rank": null,
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          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.824G>C",
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        {
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          "strand": false,
          "consequences": [
            "missense_variant"
          ],
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          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.824G>C",
          "hgvs_p": "p.Arg275Pro",
          "transcript": "ENST00000638702.1",
          "protein_id": "ENSP00000491017.1",
          "transcript_support_level": 5,
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          "cdna_start": 1081,
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          "mane_select": null,
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        {
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          "strand": false,
          "consequences": [
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          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.887G>C",
          "hgvs_p": "p.Arg296Pro",
          "transcript": "NM_153335.6",
          "protein_id": "NP_699166.2",
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        },
        {
          "aa_ref": "R",
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          "protein_coding": true,
          "strand": false,
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            "missense_variant"
          ],
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          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
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        },
        {
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          "strand": false,
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          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.998G>C",
          "hgvs_p": "p.Arg333Pro",
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        },
        {
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          "protein_coding": true,
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.998G>C",
          "hgvs_p": "p.Arg333Pro",
          "transcript": "ENST00000638888.1",
          "protein_id": "ENSP00000491528.1",
          "transcript_support_level": 5,
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          "aa_length": 343,
          "cds_start": 998,
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          "cds_length": 1032,
          "cdna_start": 1090,
          "cdna_end": null,
          "cdna_length": 1718,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.911G>C",
          "hgvs_p": "p.Arg304Pro",
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          "verdict": "Uncertain_significance",
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        {
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          "inheritance_mode": "",
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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
}