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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: 12-896610-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=896610&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 896610,
      "ref": "T",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "NM_001184985.2",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.6879T>C",
          "hgvs_p": "p.Leu2293Leu",
          "transcript": "NM_213655.5",
          "protein_id": "NP_998820.3",
          "transcript_support_level": null,
          "aa_start": 2293,
          "aa_end": null,
          "aa_length": 2634,
          "cds_start": 6879,
          "cds_end": null,
          "cds_length": 7905,
          "cdna_start": 7866,
          "cdna_end": null,
          "cdna_length": 11552,
          "mane_select": null,
          "mane_plus": "ENST00000340908.9",
          "biotype": "protein_coding",
          "feature": "NM_213655.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.6879T>C",
          "hgvs_p": "p.Leu2293Leu",
          "transcript": "ENST00000340908.9",
          "protein_id": "ENSP00000341292.5",
          "transcript_support_level": 5,
          "aa_start": 2293,
          "aa_end": null,
          "aa_length": 2634,
          "cds_start": 6879,
          "cds_end": null,
          "cds_length": 7905,
          "cdna_start": 7866,
          "cdna_end": null,
          "cdna_length": 11552,
          "mane_select": null,
          "mane_plus": "NM_213655.5",
          "biotype": "protein_coding",
          "feature": "ENST00000340908.9"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.6123T>C",
          "hgvs_p": "p.Leu2041Leu",
          "transcript": "NM_018979.4",
          "protein_id": "NP_061852.3",
          "transcript_support_level": null,
          "aa_start": 2041,
          "aa_end": null,
          "aa_length": 2382,
          "cds_start": 6123,
          "cds_end": null,
          "cds_length": 7149,
          "cdna_start": 7110,
          "cdna_end": null,
          "cdna_length": 10796,
          "mane_select": "ENST00000315939.11",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_018979.4"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.6123T>C",
          "hgvs_p": "p.Leu2041Leu",
          "transcript": "ENST00000315939.11",
          "protein_id": "ENSP00000313059.6",
          "transcript_support_level": 1,
          "aa_start": 2041,
          "aa_end": null,
          "aa_length": 2382,
          "cds_start": 6123,
          "cds_end": null,
          "cds_length": 7149,
          "cdna_start": 7110,
          "cdna_end": null,
          "cdna_length": 10796,
          "mane_select": "NM_018979.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000315939.11"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.7362T>C",
          "hgvs_p": "p.Leu2454Leu",
          "transcript": "ENST00000530271.6",
          "protein_id": "ENSP00000433548.3",
          "transcript_support_level": 1,
          "aa_start": 2454,
          "aa_end": null,
          "aa_length": 2833,
          "cds_start": 7362,
          "cds_end": null,
          "cds_length": 8502,
          "cdna_start": 8005,
          "cdna_end": null,
          "cdna_length": 11804,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000530271.6"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5379T>C",
          "hgvs_p": "p.Leu1793Leu",
          "transcript": "ENST00000535572.5",
          "protein_id": "ENSP00000441972.1",
          "transcript_support_level": 1,
          "aa_start": 1793,
          "aa_end": null,
          "aa_length": 2134,
          "cds_start": 5379,
          "cds_end": null,
          "cds_length": 6405,
          "cdna_start": 6352,
          "cdna_end": null,
          "cdna_length": 9886,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000535572.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.6903T>C",
          "hgvs_p": "p.Leu2301Leu",
          "transcript": "NM_001184985.2",
          "protein_id": "NP_001171914.1",
          "transcript_support_level": null,
          "aa_start": 2301,
          "aa_end": null,
          "aa_length": 2642,
          "cds_start": 6903,
          "cds_end": null,
          "cds_length": 7929,
          "cdna_start": 7890,
          "cdna_end": null,
          "cdna_length": 11576,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001184985.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.6903T>C",
          "hgvs_p": "p.Leu2301Leu",
          "transcript": "ENST00000537687.5",
          "protein_id": "ENSP00000444465.1",
          "transcript_support_level": 5,
          "aa_start": 2301,
          "aa_end": null,
          "aa_length": 2642,
          "cds_start": 6903,
          "cds_end": null,
          "cds_length": 7929,
          "cdna_start": 7546,
          "cdna_end": null,
          "cdna_length": 11232,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000537687.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.6120T>C",
          "hgvs_p": "p.Leu2040Leu",
          "transcript": "ENST00000899151.1",
          "protein_id": "ENSP00000569210.1",
          "transcript_support_level": null,
          "aa_start": 2040,
          "aa_end": null,
          "aa_length": 2381,
          "cds_start": 6120,
          "cds_end": null,
          "cds_length": 7146,
          "cdna_start": 7089,
          "cdna_end": null,
          "cdna_length": 10773,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000899151.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.6039T>C",
          "hgvs_p": "p.Leu2013Leu",
          "transcript": "ENST00000928791.1",
          "protein_id": "ENSP00000598850.1",
          "transcript_support_level": null,
          "aa_start": 2013,
          "aa_end": null,
          "aa_length": 2354,
          "cds_start": 6039,
          "cds_end": null,
          "cds_length": 7065,
          "cdna_start": 7015,
          "cdna_end": null,
          "cdna_length": 10701,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000928791.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5661T>C",
          "hgvs_p": "p.Leu1887Leu",
          "transcript": "ENST00000899157.1",
          "protein_id": "ENSP00000569216.1",
          "transcript_support_level": null,
          "aa_start": 1887,
          "aa_end": null,
          "aa_length": 2228,
          "cds_start": 5661,
          "cds_end": null,
          "cds_length": 6687,
          "cdna_start": 6092,
          "cdna_end": null,
          "cdna_length": 7746,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000899157.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5385T>C",
          "hgvs_p": "p.Leu1795Leu",
          "transcript": "ENST00000899150.1",
          "protein_id": "ENSP00000569209.1",
          "transcript_support_level": null,
          "aa_start": 1795,
          "aa_end": null,
          "aa_length": 2136,
          "cds_start": 5385,
          "cds_end": null,
          "cds_length": 6411,
          "cdna_start": 6372,
          "cdna_end": null,
          "cdna_length": 10057,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000899150.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5382T>C",
          "hgvs_p": "p.Leu1794Leu",
          "transcript": "ENST00000899152.1",
          "protein_id": "ENSP00000569211.1",
          "transcript_support_level": null,
          "aa_start": 1794,
          "aa_end": null,
          "aa_length": 2135,
          "cds_start": 5382,
          "cds_end": null,
          "cds_length": 6408,
          "cdna_start": 6369,
          "cdna_end": null,
          "cdna_length": 9845,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000899152.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5382T>C",
          "hgvs_p": "p.Leu1794Leu",
          "transcript": "ENST00000899156.1",
          "protein_id": "ENSP00000569215.1",
          "transcript_support_level": null,
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          "cds_start": 5382,
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          "cdna_start": 6190,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000899156.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5379T>C",
          "hgvs_p": "p.Leu1793Leu",
          "transcript": "NM_014823.3",
          "protein_id": "NP_055638.2",
          "transcript_support_level": null,
          "aa_start": 1793,
          "aa_end": null,
          "aa_length": 2134,
          "cds_start": 5379,
          "cds_end": null,
          "cds_length": 6405,
          "cdna_start": 6366,
          "cdna_end": null,
          "cdna_length": 10052,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_014823.3"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5298T>C",
          "hgvs_p": "p.Leu1766Leu",
          "transcript": "ENST00000899153.1",
          "protein_id": "ENSP00000569212.1",
          "transcript_support_level": null,
          "aa_start": 1766,
          "aa_end": null,
          "aa_length": 2107,
          "cds_start": 5298,
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          "cds_length": 6324,
          "cdna_start": 6328,
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          "cdna_length": 7982,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000899153.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5298T>C",
          "hgvs_p": "p.Leu1766Leu",
          "transcript": "ENST00000899154.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000899154.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
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          "protein_coding": true,
          "strand": true,
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          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5295T>C",
          "hgvs_p": "p.Leu1765Leu",
          "transcript": "ENST00000899155.1",
          "protein_id": "ENSP00000569214.1",
          "transcript_support_level": null,
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          "aa_length": 2106,
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          "cdna_start": 6267,
          "cdna_end": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000899155.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.4902T>C",
          "hgvs_p": "p.Leu1634Leu",
          "transcript": "ENST00000675631.1",
          "protein_id": "ENSP00000502415.1",
          "transcript_support_level": null,
          "aa_start": 1634,
          "aa_end": null,
          "aa_length": 1975,
          "cds_start": 4902,
          "cds_end": null,
          "cds_length": 5928,
          "cdna_start": 5171,
          "cdna_end": null,
          "cdna_length": 8857,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000675631.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.3570T>C",
          "hgvs_p": "p.Leu1190Leu",
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      "dbsnp": "rs189148252",
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      "computational_score_selected": -0.5600000023841858,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "bayesdelnoaf_score": -0.56,
      "bayesdelnoaf_prediction": "Benign",
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      "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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            "BP6_Moderate",
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          "transcript": "NM_001184985.2",
          "gene_symbol": "WNK1",
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          "hgvs_p": "p.Leu2301Leu"
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      "clinvar_disease": " hereditary sensory and autonomic, type 2A,Neuropathy,Pseudohypoaldosteronism type 2C",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "Neuropathy, hereditary sensory and autonomic, type 2A;Pseudohypoaldosteronism type 2C",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}
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