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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: 3-195868079-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=195868079&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 195868079,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001387707.1",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2219C>G",
          "hgvs_p": "p.Pro740Arg",
          "transcript": "NM_001382273.1",
          "protein_id": "NP_001369202.1",
          "transcript_support_level": null,
          "aa_start": 740,
          "aa_end": null,
          "aa_length": 1055,
          "cds_start": 2219,
          "cds_end": null,
          "cds_length": 3168,
          "cdna_start": 2304,
          "cdna_end": null,
          "cdna_length": 4070,
          "mane_select": "ENST00000672887.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382273.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2219C>G",
          "hgvs_p": "p.Pro740Arg",
          "transcript": "ENST00000672887.2",
          "protein_id": "ENSP00000499899.1",
          "transcript_support_level": null,
          "aa_start": 740,
          "aa_end": null,
          "aa_length": 1055,
          "cds_start": 2219,
          "cds_end": null,
          "cds_length": 3168,
          "cdna_start": 2304,
          "cdna_end": null,
          "cdna_length": 4070,
          "mane_select": "NM_001382273.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000672887.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2270C>G",
          "hgvs_p": "p.Pro757Arg",
          "transcript": "ENST00000428187.7",
          "protein_id": "ENSP00000392546.1",
          "transcript_support_level": 1,
          "aa_start": 757,
          "aa_end": null,
          "aa_length": 1040,
          "cds_start": 2270,
          "cds_end": null,
          "cds_length": 3123,
          "cdna_start": 2566,
          "cdna_end": null,
          "cdna_length": 4235,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000428187.7"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2174C>G",
          "hgvs_p": "p.Pro725Arg",
          "transcript": "ENST00000333602.14",
          "protein_id": "ENSP00000329425.6",
          "transcript_support_level": 1,
          "aa_start": 725,
          "aa_end": null,
          "aa_length": 1038,
          "cds_start": 2174,
          "cds_end": null,
          "cds_length": 3117,
          "cdna_start": 3510,
          "cdna_end": null,
          "cdna_length": 5270,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000333602.14"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2315C>G",
          "hgvs_p": "p.Pro772Arg",
          "transcript": "NM_001387707.1",
          "protein_id": "NP_001374636.1",
          "transcript_support_level": null,
          "aa_start": 772,
          "aa_end": null,
          "aa_length": 1087,
          "cds_start": 2315,
          "cds_end": null,
          "cds_length": 3264,
          "cdna_start": 2571,
          "cdna_end": null,
          "cdna_length": 4337,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001387707.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2408C>G",
          "hgvs_p": "p.Pro803Arg",
          "transcript": "ENST00000381916.7",
          "protein_id": "ENSP00000371341.2",
          "transcript_support_level": 2,
          "aa_start": 803,
          "aa_end": null,
          "aa_length": 1086,
          "cds_start": 2408,
          "cds_end": null,
          "cds_length": 3261,
          "cdna_start": 2553,
          "cdna_end": null,
          "cdna_length": 4222,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000381916.7"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2291C>G",
          "hgvs_p": "p.Pro764Arg",
          "transcript": "NM_001382272.1",
          "protein_id": "NP_001369201.1",
          "transcript_support_level": null,
          "aa_start": 764,
          "aa_end": null,
          "aa_length": 1079,
          "cds_start": 2291,
          "cds_end": null,
          "cds_length": 3240,
          "cdna_start": 2340,
          "cdna_end": null,
          "cdna_length": 4106,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382272.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2288C>G",
          "hgvs_p": "p.Pro763Arg",
          "transcript": "ENST00000863906.1",
          "protein_id": "ENSP00000533965.1",
          "transcript_support_level": null,
          "aa_start": 763,
          "aa_end": null,
          "aa_length": 1078,
          "cds_start": 2288,
          "cds_end": null,
          "cds_length": 3237,
          "cdna_start": 2336,
          "cdna_end": null,
          "cdna_length": 4099,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863906.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2288C>G",
          "hgvs_p": "p.Pro763Arg",
          "transcript": "ENST00000863912.1",
          "protein_id": "ENSP00000533971.1",
          "transcript_support_level": null,
          "aa_start": 763,
          "aa_end": null,
          "aa_length": 1078,
          "cds_start": 2288,
          "cds_end": null,
          "cds_length": 3237,
          "cdna_start": 2640,
          "cdna_end": null,
          "cdna_length": 4406,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863912.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2270C>G",
          "hgvs_p": "p.Pro757Arg",
          "transcript": "NM_001382271.1",
          "protein_id": "NP_001369200.1",
          "transcript_support_level": null,
          "aa_start": 757,
          "aa_end": null,
          "aa_length": 1072,
          "cds_start": 2270,
          "cds_end": null,
          "cds_length": 3219,
          "cdna_start": 2526,
          "cdna_end": null,
          "cdna_length": 4292,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382271.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2270C>G",
          "hgvs_p": "p.Pro757Arg",
          "transcript": "ENST00000673038.1",
          "protein_id": "ENSP00000500452.1",
          "transcript_support_level": null,
          "aa_start": 757,
          "aa_end": null,
          "aa_length": 1072,
          "cds_start": 2270,
          "cds_end": null,
          "cds_length": 3219,
          "cdna_start": 2510,
          "cdna_end": null,
          "cdna_length": 4276,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000673038.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2270C>G",
          "hgvs_p": "p.Pro757Arg",
          "transcript": "ENST00000678220.1",
          "protein_id": "ENSP00000503221.1",
          "transcript_support_level": null,
          "aa_start": 757,
          "aa_end": null,
          "aa_length": 1072,
          "cds_start": 2270,
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          "cds_length": 3219,
          "cdna_start": 2526,
          "cdna_end": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000678220.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2246C>G",
          "hgvs_p": "p.Pro749Arg",
          "transcript": "NM_001387708.1",
          "protein_id": "NP_001374637.1",
          "transcript_support_level": null,
          "aa_start": 749,
          "aa_end": null,
          "aa_length": 1064,
          "cds_start": 2246,
          "cds_end": null,
          "cds_length": 3195,
          "cdna_start": 2295,
          "cdna_end": null,
          "cdna_length": 4061,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001387708.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2219C>G",
          "hgvs_p": "p.Pro740Arg",
          "transcript": "NM_001382274.1",
          "protein_id": "NP_001369203.1",
          "transcript_support_level": null,
          "aa_start": 740,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2315C>G",
          "hgvs_p": "p.Pro772Arg",
          "transcript": "NM_001382275.1",
          "protein_id": "NP_001369204.1",
          "transcript_support_level": null,
          "aa_start": 772,
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          "cds_start": 2315,
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          "cds_length": 3168,
          "cdna_start": 2571,
          "cdna_end": null,
          "cdna_length": 4241,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382275.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2219C>G",
          "hgvs_p": "p.Pro740Arg",
          "transcript": "ENST00000863904.1",
          "protein_id": "ENSP00000533963.1",
          "transcript_support_level": null,
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          "cdna_start": 2299,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000863904.1"
        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2219C>G",
          "hgvs_p": "p.Pro740Arg",
          "transcript": "ENST00000863911.1",
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        },
        {
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          "intron_rank": null,
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          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2291C>G",
          "hgvs_p": "p.Pro764Arg",
          "transcript": "NM_001010938.2",
          "protein_id": "NP_001010938.2",
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          "biotype": "protein_coding",
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        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2291C>G",
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          "transcript": "ENST00000671753.1",
          "protein_id": "ENSP00000499858.1",
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          "cdna_length": 4223,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000671753.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2270C>G",
          "hgvs_p": "p.Pro757Arg",
          "transcript": "NM_001308046.2",
          "protein_id": "NP_001294975.1",
          "transcript_support_level": null,
          "aa_start": 757,
          "aa_end": null,
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      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001387707.1",
          "gene_symbol": "TNK2",
          "hgnc_id": 19297,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2315C>G",
          "hgvs_p": "p.Pro772Arg"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.