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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: 4-153334819-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=153334819&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 153334819,
      "ref": "T",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "NM_001375488.1",
      "consequences": [
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2169T>C",
          "hgvs_p": "p.Phe723Phe",
          "transcript": "NM_015271.5",
          "protein_id": "NP_056086.2",
          "transcript_support_level": null,
          "aa_start": 723,
          "aa_end": null,
          "aa_length": 771,
          "cds_start": 2169,
          "cds_end": null,
          "cds_length": 2316,
          "cdna_start": 2257,
          "cdna_end": null,
          "cdna_length": 6755,
          "mane_select": "ENST00000338700.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015271.5"
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2169T>C",
          "hgvs_p": "p.Phe723Phe",
          "transcript": "ENST00000338700.10",
          "protein_id": "ENSP00000339659.5",
          "transcript_support_level": 1,
          "aa_start": 723,
          "aa_end": null,
          "aa_length": 771,
          "cds_start": 2169,
          "cds_end": null,
          "cds_length": 2316,
          "cdna_start": 2257,
          "cdna_end": null,
          "cdna_length": 6755,
          "mane_select": "NM_015271.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000338700.10"
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2088T>C",
          "hgvs_p": "p.Phe696Phe",
          "transcript": "ENST00000437508.7",
          "protein_id": "ENSP00000415812.2",
          "transcript_support_level": 1,
          "aa_start": 696,
          "aa_end": null,
          "aa_length": 744,
          "cds_start": 2088,
          "cds_end": null,
          "cds_length": 2235,
          "cdna_start": 2289,
          "cdna_end": null,
          "cdna_length": 3828,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000437508.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000288637",
          "gene_hgnc_id": null,
          "hgvs_c": "c.2082+6149T>C",
          "hgvs_p": null,
          "transcript": "ENST00000675838.1",
          "protein_id": "ENSP00000501593.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3066,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000675838.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2262T>C",
          "hgvs_p": "p.Phe754Phe",
          "transcript": "NM_001375488.1",
          "protein_id": "NP_001362417.1",
          "transcript_support_level": null,
          "aa_start": 754,
          "aa_end": null,
          "aa_length": 802,
          "cds_start": 2262,
          "cds_end": null,
          "cds_length": 2409,
          "cdna_start": 2350,
          "cdna_end": null,
          "cdna_length": 6848,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375488.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2259T>C",
          "hgvs_p": "p.Phe753Phe",
          "transcript": "NM_001375489.1",
          "protein_id": "NP_001362418.1",
          "transcript_support_level": null,
          "aa_start": 753,
          "aa_end": null,
          "aa_length": 801,
          "cds_start": 2259,
          "cds_end": null,
          "cds_length": 2406,
          "cdna_start": 2347,
          "cdna_end": null,
          "cdna_length": 6845,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375489.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2247T>C",
          "hgvs_p": "p.Phe749Phe",
          "transcript": "ENST00000674847.1",
          "protein_id": "ENSP00000501983.1",
          "transcript_support_level": null,
          "aa_start": 749,
          "aa_end": null,
          "aa_length": 797,
          "cds_start": 2247,
          "cds_end": null,
          "cds_length": 2394,
          "cdna_start": 2484,
          "cdna_end": null,
          "cdna_length": 6967,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674847.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2181T>C",
          "hgvs_p": "p.Phe727Phe",
          "transcript": "NM_001438618.1",
          "protein_id": "NP_001425547.1",
          "transcript_support_level": null,
          "aa_start": 727,
          "aa_end": null,
          "aa_length": 775,
          "cds_start": 2181,
          "cds_end": null,
          "cds_length": 2328,
          "cdna_start": 2269,
          "cdna_end": null,
          "cdna_length": 6767,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438618.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2181T>C",
          "hgvs_p": "p.Phe727Phe",
          "transcript": "ENST00000675063.1",
          "protein_id": "ENSP00000501562.1",
          "transcript_support_level": null,
          "aa_start": 727,
          "aa_end": null,
          "aa_length": 775,
          "cds_start": 2181,
          "cds_end": null,
          "cds_length": 2328,
          "cdna_start": 2344,
          "cdna_end": null,
          "cdna_length": 6836,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000675063.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2181T>C",
          "hgvs_p": "p.Phe727Phe",
          "transcript": "ENST00000675673.1",
          "protein_id": "ENSP00000502083.1",
          "transcript_support_level": null,
          "aa_start": 727,
          "aa_end": null,
          "aa_length": 775,
          "cds_start": 2181,
          "cds_end": null,
          "cds_length": 2328,
          "cdna_start": 2349,
          "cdna_end": null,
          "cdna_length": 6841,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000675673.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2178T>C",
          "hgvs_p": "p.Phe726Phe",
          "transcript": "NM_001438619.1",
          "protein_id": "NP_001425548.1",
          "transcript_support_level": null,
          "aa_start": 726,
          "aa_end": null,
          "aa_length": 774,
          "cds_start": 2178,
          "cds_end": null,
          "cds_length": 2325,
          "cdna_start": 2266,
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          "cdna_length": 6764,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438619.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
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          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2166T>C",
          "hgvs_p": "p.Phe722Phe",
          "transcript": "NM_001438620.1",
          "protein_id": "NP_001425549.1",
          "transcript_support_level": null,
          "aa_start": 722,
          "aa_end": null,
          "aa_length": 770,
          "cds_start": 2166,
          "cds_end": null,
          "cds_length": 2313,
          "cdna_start": 2254,
          "cdna_end": null,
          "cdna_length": 6752,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001438620.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
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          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2157T>C",
          "hgvs_p": "p.Phe719Phe",
          "transcript": "ENST00000894199.1",
          "protein_id": "ENSP00000564258.1",
          "transcript_support_level": null,
          "aa_start": 719,
          "aa_end": null,
          "aa_length": 767,
          "cds_start": 2157,
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          "cdna_length": 2780,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000894199.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
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          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2154T>C",
          "hgvs_p": "p.Phe718Phe",
          "transcript": "NM_001351054.2",
          "protein_id": "NP_001337983.1",
          "transcript_support_level": null,
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        {
          "aa_ref": "F",
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          "canonical": false,
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          ],
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          "exon_count": 12,
          "intron_rank": null,
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          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2154T>C",
          "hgvs_p": "p.Phe718Phe",
          "transcript": "ENST00000674935.1",
          "protein_id": "ENSP00000501672.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000674935.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
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          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2151T>C",
          "hgvs_p": "p.Phe717Phe",
          "transcript": "NM_001351055.2",
          "protein_id": "NP_001337984.1",
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        },
        {
          "aa_ref": "F",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
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          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2151T>C",
          "hgvs_p": "p.Phe717Phe",
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        {
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          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2142T>C",
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          "transcript": "ENST00000675977.1",
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "F",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "intron_rank": null,
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          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2139T>C",
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          "transcript": "ENST00000674896.1",
          "protein_id": "ENSP00000501725.1",
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          "cds_start": 2139,
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          "cdna_length": 6889,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000674896.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.2112T>C",
          "hgvs_p": "p.Phe704Phe",
          "transcript": "NM_001375490.1",
          "protein_id": "NP_001362419.1",
          "transcript_support_level": null,
          "aa_start": 704,
          "aa_end": null,
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      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
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}
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.