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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: 11-237087-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=237087&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 237087,
      "ref": "A",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000532097.6",
      "consequences": [
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSMD13",
          "gene_hgnc_id": 9558,
          "hgvs_c": "c.38A>G",
          "hgvs_p": "p.Asn13Ser",
          "transcript": "NM_002817.4",
          "protein_id": "NP_002808.3",
          "transcript_support_level": null,
          "aa_start": 13,
          "aa_end": null,
          "aa_length": 376,
          "cds_start": 38,
          "cds_end": null,
          "cds_length": 1131,
          "cdna_start": 112,
          "cdna_end": null,
          "cdna_length": 1589,
          "mane_select": "ENST00000532097.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSMD13",
          "gene_hgnc_id": 9558,
          "hgvs_c": "c.38A>G",
          "hgvs_p": "p.Asn13Ser",
          "transcript": "ENST00000532097.6",
          "protein_id": "ENSP00000436186.1",
          "transcript_support_level": 1,
          "aa_start": 13,
          "aa_end": null,
          "aa_length": 376,
          "cds_start": 38,
          "cds_end": null,
          "cds_length": 1131,
          "cdna_start": 112,
          "cdna_end": null,
          "cdna_length": 1589,
          "mane_select": "NM_002817.4",
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSMD13",
          "gene_hgnc_id": 9558,
          "hgvs_c": "n.38A>G",
          "hgvs_p": null,
          "transcript": "ENST00000382671.8",
          "protein_id": "ENSP00000372117.4",
          "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": 1489,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSMD13",
          "gene_hgnc_id": 9558,
          "hgvs_c": "n.84A>G",
          "hgvs_p": null,
          "transcript": "ENST00000527047.5",
          "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": 1284,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSMD13",
          "gene_hgnc_id": 9558,
          "hgvs_c": "c.38A>G",
          "hgvs_p": "p.Asn13Ser",
          "transcript": "NM_175932.3",
          "protein_id": "NP_787128.2",
          "transcript_support_level": null,
          "aa_start": 13,
          "aa_end": null,
          "aa_length": 378,
          "cds_start": 38,
          "cds_end": null,
          "cds_length": 1137,
          "cdna_start": 112,
          "cdna_end": null,
          "cdna_length": 1595,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSMD13",
          "gene_hgnc_id": 9558,
          "hgvs_c": "c.38A>G",
          "hgvs_p": "p.Asn13Ser",
          "transcript": "ENST00000431206.6",
          "protein_id": "ENSP00000396937.2",
          "transcript_support_level": 2,
          "aa_start": 13,
          "aa_end": null,
          "aa_length": 378,
          "cds_start": 38,
          "cds_end": null,
          "cds_length": 1137,
          "cdna_start": 111,
          "cdna_end": null,
          "cdna_length": 1591,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSMD13",
          "gene_hgnc_id": 9558,
          "hgvs_c": "c.38A>G",
          "hgvs_p": "p.Asn13Ser",
          "transcript": "ENST00000352303.9",
          "protein_id": "ENSP00000333811.5",
          "transcript_support_level": 5,
          "aa_start": 13,
          "aa_end": null,
          "aa_length": 349,
          "cds_start": 38,
          "cds_end": null,
          "cds_length": 1050,
          "cdna_start": 62,
          "cdna_end": null,
          "cdna_length": 1427,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSMD13",
          "gene_hgnc_id": 9558,
          "hgvs_c": "c.38A>G",
          "hgvs_p": "p.Asn13Ser",
          "transcript": "ENST00000528906.5",
          "protein_id": "ENSP00000433364.1",
          "transcript_support_level": 5,
          "aa_start": 13,
          "aa_end": null,
          "aa_length": 262,
          "cds_start": 38,
          "cds_end": null,
          "cds_length": 789,
          "cdna_start": 107,
          "cdna_end": null,
          "cdna_length": 858,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSMD13",
          "gene_hgnc_id": 9558,
          "hgvs_c": "c.38A>G",
          "hgvs_p": "p.Asn13Ser",
          "transcript": "XM_011520235.4",
          "protein_id": "XP_011518537.1",
          "transcript_support_level": null,
          "aa_start": 13,
          "aa_end": null,
          "aa_length": 310,
          "cds_start": 38,
          "cds_end": null,
          "cds_length": 933,
          "cdna_start": 112,
          "cdna_end": null,
          "cdna_length": 1391,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSMD13",
          "gene_hgnc_id": 9558,
          "hgvs_c": "n.38A>G",
          "hgvs_p": null,
          "transcript": "ENST00000525665.5",
          "protein_id": "ENSP00000434587.1",
          "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": 1632,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSMD13",
          "gene_hgnc_id": 9558,
          "hgvs_c": "n.38A>G",
          "hgvs_p": null,
          "transcript": "ENST00000529372.5",
          "protein_id": "ENSP00000436795.1",
          "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": 612,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSMD13",
          "gene_hgnc_id": 9558,
          "hgvs_c": "n.111A>G",
          "hgvs_p": null,
          "transcript": "ENST00000534590.5",
          "protein_id": null,
          "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,
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          "cdna_length": 787,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.-617T>C",
          "hgvs_p": null,
          "transcript": "NM_001370321.1",
          "protein_id": "NP_001357250.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 275,
          "cds_start": -4,
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          "cds_length": 828,
          "cdna_start": null,
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          "cdna_length": 2957,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.-520T>C",
          "hgvs_p": null,
          "transcript": "NM_001370322.1",
          "protein_id": "NP_001357251.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 275,
          "cds_start": -4,
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          "cds_length": 828,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2860,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.-617T>C",
          "hgvs_p": null,
          "transcript": "NM_001370318.1",
          "protein_id": "NP_001357247.1",
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.-544T>C",
          "hgvs_p": null,
          "transcript": "NM_001370319.1",
          "protein_id": "NP_001357248.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 257,
          "cds_start": -4,
          "cds_end": null,
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          "cdna_start": null,
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          "cdna_length": 2830,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.-542T>C",
          "hgvs_p": null,
          "transcript": "NM_001370320.1",
          "protein_id": "NP_001357249.1",
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          "aa_length": 257,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2828,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.-542T>C",
          "hgvs_p": null,
          "transcript": "NM_001370324.1",
          "protein_id": "NP_001357253.1",
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          "feature": null
        },
        {
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.-481T>C",
          "hgvs_p": null,
          "transcript": "NM_001370317.1",
          "protein_id": "NP_001357246.1",
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          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.-711T>C",
          "hgvs_p": null,
          "transcript": "ENST00000528469.1",
          "protein_id": "ENSP00000432857.1",
          "transcript_support_level": 5,
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          "aa_length": 92,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 280,
          "cdna_start": null,
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          "cdna_length": 763,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "n.-156T>C",
          "hgvs_p": null,
          "transcript": "ENST00000528702.5",
          "protein_id": null,
          "transcript_support_level": 5,
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          "cds_start": -4,
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          "inheritance_mode": "",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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  "message": null
}