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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: 17-45267440-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=45267440&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 45267440,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000344686.8",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14",
          "gene_hgnc_id": 6853,
          "hgvs_c": "c.2292C>T",
          "hgvs_p": "p.Thr764Thr",
          "transcript": "NM_003954.5",
          "protein_id": "NP_003945.2",
          "transcript_support_level": null,
          "aa_start": 764,
          "aa_end": null,
          "aa_length": 947,
          "cds_start": 2292,
          "cds_end": null,
          "cds_length": 2844,
          "cdna_start": 2373,
          "cdna_end": null,
          "cdna_length": 4442,
          "mane_select": "ENST00000344686.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14",
          "gene_hgnc_id": 6853,
          "hgvs_c": "c.2292C>T",
          "hgvs_p": "p.Thr764Thr",
          "transcript": "ENST00000344686.8",
          "protein_id": "ENSP00000478552.1",
          "transcript_support_level": 1,
          "aa_start": 764,
          "aa_end": null,
          "aa_length": 947,
          "cds_start": 2292,
          "cds_end": null,
          "cds_length": 2844,
          "cdna_start": 2373,
          "cdna_end": null,
          "cdna_length": 4442,
          "mane_select": "NM_003954.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14",
          "gene_hgnc_id": 6853,
          "hgvs_c": "c.2292C>T",
          "hgvs_p": "p.Thr764Thr",
          "transcript": "ENST00000376926.8",
          "protein_id": "ENSP00000482657.1",
          "transcript_support_level": 1,
          "aa_start": 764,
          "aa_end": null,
          "aa_length": 947,
          "cds_start": 2292,
          "cds_end": null,
          "cds_length": 2844,
          "cdna_start": 2523,
          "cdna_end": null,
          "cdna_length": 4583,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14-AS1",
          "gene_hgnc_id": 44359,
          "hgvs_c": "n.638+112G>A",
          "hgvs_p": null,
          "transcript": "ENST00000585351.2",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": 961,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14-AS1",
          "gene_hgnc_id": 44359,
          "hgvs_c": "n.480+112G>A",
          "hgvs_p": null,
          "transcript": "ENST00000586450.6",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": 2296,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14-AS1",
          "gene_hgnc_id": 44359,
          "hgvs_c": "n.286+112G>A",
          "hgvs_p": null,
          "transcript": "ENST00000590100.7",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": 2114,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14",
          "gene_hgnc_id": 6853,
          "hgvs_c": "c.2292C>T",
          "hgvs_p": "p.Thr764Thr",
          "transcript": "ENST00000617331.3",
          "protein_id": "ENSP00000480974.3",
          "transcript_support_level": 5,
          "aa_start": 764,
          "aa_end": null,
          "aa_length": 947,
          "cds_start": 2292,
          "cds_end": null,
          "cds_length": 2844,
          "cdna_start": 2535,
          "cdna_end": null,
          "cdna_length": 3087,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14",
          "gene_hgnc_id": 6853,
          "hgvs_c": "c.2292C>T",
          "hgvs_p": "p.Thr764Thr",
          "transcript": "XM_047436997.1",
          "protein_id": "XP_047292953.1",
          "transcript_support_level": null,
          "aa_start": 764,
          "aa_end": null,
          "aa_length": 1016,
          "cds_start": 2292,
          "cds_end": null,
          "cds_length": 3051,
          "cdna_start": 2373,
          "cdna_end": null,
          "cdna_length": 4649,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14",
          "gene_hgnc_id": 6853,
          "hgvs_c": "c.2292C>T",
          "hgvs_p": "p.Thr764Thr",
          "transcript": "XM_047436998.1",
          "protein_id": "XP_047292954.1",
          "transcript_support_level": null,
          "aa_start": 764,
          "aa_end": null,
          "aa_length": 1016,
          "cds_start": 2292,
          "cds_end": null,
          "cds_length": 3051,
          "cdna_start": 2526,
          "cdna_end": null,
          "cdna_length": 4802,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14",
          "gene_hgnc_id": 6853,
          "hgvs_c": "c.2292C>T",
          "hgvs_p": "p.Thr764Thr",
          "transcript": "XM_011525441.3",
          "protein_id": "XP_011523743.1",
          "transcript_support_level": null,
          "aa_start": 764,
          "aa_end": null,
          "aa_length": 947,
          "cds_start": 2292,
          "cds_end": null,
          "cds_length": 2844,
          "cdna_start": 2526,
          "cdna_end": null,
          "cdna_length": 4595,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14-AS1",
          "gene_hgnc_id": 44359,
          "hgvs_c": "n.462G>A",
          "hgvs_p": null,
          "transcript": "ENST00000585346.5",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 488,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14-AS1",
          "gene_hgnc_id": 44359,
          "hgvs_c": "n.1856G>A",
          "hgvs_p": null,
          "transcript": "ENST00000585780.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2475,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14",
          "gene_hgnc_id": 6853,
          "hgvs_c": "n.1229C>T",
          "hgvs_p": null,
          "transcript": "ENST00000586644.2",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 3266,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14-AS1",
          "gene_hgnc_id": 44359,
          "hgvs_c": "n.523G>A",
          "hgvs_p": null,
          "transcript": "ENST00000588160.1",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 573,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14-AS1",
          "gene_hgnc_id": 44359,
          "hgvs_c": "n.396G>A",
          "hgvs_p": null,
          "transcript": "ENST00000588504.5",
          "protein_id": null,
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          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": 544,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14-AS1",
          "gene_hgnc_id": 44359,
          "hgvs_c": "n.404G>A",
          "hgvs_p": null,
          "transcript": "ENST00000591263.5",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 454,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14",
          "gene_hgnc_id": 6853,
          "hgvs_c": "n.1099C>T",
          "hgvs_p": null,
          "transcript": "ENST00000592267.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 3152,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14",
          "gene_hgnc_id": 6853,
          "hgvs_c": "n.*545C>T",
          "hgvs_p": null,
          "transcript": "ENST00000680632.1",
          "protein_id": "ENSP00000505027.1",
          "transcript_support_level": null,
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          "cdna_length": 3406,
          "mane_select": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14-AS1",
          "gene_hgnc_id": 44359,
          "hgvs_c": "n.436G>A",
          "hgvs_p": null,
          "transcript": "ENST00000782438.1",
          "protein_id": null,
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          "cdna_length": 709,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14-AS1",
          "gene_hgnc_id": 44359,
          "hgvs_c": "n.523G>A",
          "hgvs_p": null,
          "transcript": "ENST00000782439.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 794,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K14-AS1",
          "gene_hgnc_id": 44359,
          "hgvs_c": "n.471G>A",
          "hgvs_p": null,
          "transcript": "ENST00000782444.1",
          "protein_id": null,
          "transcript_support_level": null,
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      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.71,
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      "phylop100way_score": 1.225,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": -5,
      "acmg_classification": "Likely_benign",
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      "acmg_by_gene": [
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          "verdict": "Likely_benign",
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          "verdict": "Likely_benign",
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          "effects": [
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          "inheritance_mode": "",
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      "clinvar_disease": "NIK deficiency",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "NIK deficiency",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
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  "message": null
}