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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: 14-50723640-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50723640&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 50723640,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_020921.4",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6225G>A",
          "hgvs_p": "p.Val2075Val",
          "transcript": "NM_020921.4",
          "protein_id": "NP_065972.4",
          "transcript_support_level": null,
          "aa_start": 2075,
          "aa_end": null,
          "aa_length": 2133,
          "cds_start": 6225,
          "cds_end": null,
          "cds_length": 6402,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000530997.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_020921.4"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6225G>A",
          "hgvs_p": "p.Val2075Val",
          "transcript": "ENST00000530997.7",
          "protein_id": "ENSP00000436092.2",
          "transcript_support_level": 5,
          "aa_start": 2075,
          "aa_end": null,
          "aa_length": 2133,
          "cds_start": 6225,
          "cds_end": null,
          "cds_length": 6402,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_020921.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000530997.7"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6225G>A",
          "hgvs_p": "p.Val2075Val",
          "transcript": "ENST00000914777.1",
          "protein_id": "ENSP00000584836.1",
          "transcript_support_level": null,
          "aa_start": 2075,
          "aa_end": null,
          "aa_length": 2133,
          "cds_start": 6225,
          "cds_end": null,
          "cds_length": 6402,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914777.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6135G>A",
          "hgvs_p": "p.Val2045Val",
          "transcript": "ENST00000872465.1",
          "protein_id": "ENSP00000542524.1",
          "transcript_support_level": null,
          "aa_start": 2045,
          "aa_end": null,
          "aa_length": 2103,
          "cds_start": 6135,
          "cds_end": null,
          "cds_length": 6312,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872465.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.5919G>A",
          "hgvs_p": "p.Val1973Val",
          "transcript": "ENST00000965312.1",
          "protein_id": "ENSP00000635371.1",
          "transcript_support_level": null,
          "aa_start": 1973,
          "aa_end": null,
          "aa_length": 2031,
          "cds_start": 5919,
          "cds_end": null,
          "cds_length": 6096,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965312.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6315G>A",
          "hgvs_p": "p.Val2105Val",
          "transcript": "XM_024449622.2",
          "protein_id": "XP_024305390.1",
          "transcript_support_level": null,
          "aa_start": 2105,
          "aa_end": null,
          "aa_length": 2163,
          "cds_start": 6315,
          "cds_end": null,
          "cds_length": 6492,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024449622.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6225G>A",
          "hgvs_p": "p.Val2075Val",
          "transcript": "XM_047431431.1",
          "protein_id": "XP_047287387.1",
          "transcript_support_level": null,
          "aa_start": 2075,
          "aa_end": null,
          "aa_length": 2133,
          "cds_start": 6225,
          "cds_end": null,
          "cds_length": 6402,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431431.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6135G>A",
          "hgvs_p": "p.Val2045Val",
          "transcript": "XM_047431432.1",
          "protein_id": "XP_047287388.1",
          "transcript_support_level": null,
          "aa_start": 2045,
          "aa_end": null,
          "aa_length": 2103,
          "cds_start": 6135,
          "cds_end": null,
          "cds_length": 6312,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431432.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6099G>A",
          "hgvs_p": "p.Val2033Val",
          "transcript": "XM_047431433.1",
          "protein_id": "XP_047287389.1",
          "transcript_support_level": null,
          "aa_start": 2033,
          "aa_end": null,
          "aa_length": 2091,
          "cds_start": 6099,
          "cds_end": null,
          "cds_length": 6276,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431433.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6009G>A",
          "hgvs_p": "p.Val2003Val",
          "transcript": "XM_047431434.1",
          "protein_id": "XP_047287390.1",
          "transcript_support_level": null,
          "aa_start": 2003,
          "aa_end": null,
          "aa_length": 2061,
          "cds_start": 6009,
          "cds_end": null,
          "cds_length": 6186,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431434.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.5559G>A",
          "hgvs_p": "p.Val1853Val",
          "transcript": "XM_047431438.1",
          "protein_id": "XP_047287394.1",
          "transcript_support_level": null,
          "aa_start": 1853,
          "aa_end": null,
          "aa_length": 1911,
          "cds_start": 5559,
          "cds_end": null,
          "cds_length": 5736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431438.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.5469G>A",
          "hgvs_p": "p.Val1823Val",
          "transcript": "XM_047431439.1",
          "protein_id": "XP_047287395.1",
          "transcript_support_level": null,
          "aa_start": 1823,
          "aa_end": null,
          "aa_length": 1881,
          "cds_start": 5469,
          "cds_end": null,
          "cds_length": 5646,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431439.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.4176G>A",
          "hgvs_p": "p.Val1392Val",
          "transcript": "XM_011536822.3",
          "protein_id": "XP_011535124.1",
          "transcript_support_level": null,
          "aa_start": 1392,
          "aa_end": null,
          "aa_length": 1450,
          "cds_start": 4176,
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          "cds_length": 4353,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_011536822.3"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.4086G>A",
          "hgvs_p": "p.Val1362Val",
          "transcript": "XM_047431440.1",
          "protein_id": "XP_047287396.1",
          "transcript_support_level": null,
          "aa_start": 1362,
          "aa_end": null,
          "aa_length": 1420,
          "cds_start": 4086,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.4086G>A",
          "hgvs_p": "p.Val1362Val",
          "transcript": "XM_047431441.1",
          "protein_id": "XP_047287397.1",
          "transcript_support_level": null,
          "aa_start": 1362,
          "aa_end": null,
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          "cds_start": 4086,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_047431441.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
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          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.3996G>A",
          "hgvs_p": "p.Val1332Val",
          "transcript": "XM_047431442.1",
          "protein_id": "XP_047287398.1",
          "transcript_support_level": null,
          "aa_start": 1332,
          "aa_end": null,
          "aa_length": 1390,
          "cds_start": 3996,
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          "biotype": "protein_coding",
          "feature": "XM_047431442.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
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          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.3960G>A",
          "hgvs_p": "p.Val1320Val",
          "transcript": "XM_047431443.1",
          "protein_id": "XP_047287399.1",
          "transcript_support_level": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "V",
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
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          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.3870G>A",
          "hgvs_p": "p.Val1290Val",
          "transcript": "XM_047431445.1",
          "protein_id": "XP_047287401.1",
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          "biotype": "protein_coding",
          "feature": "XM_047431445.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
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          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.3420G>A",
          "hgvs_p": "p.Val1140Val",
          "transcript": "XM_047431450.1",
          "protein_id": "XP_047287406.1",
          "transcript_support_level": null,
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          "cds_start": 3420,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431450.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.3420G>A",
          "hgvs_p": "p.Val1140Val",
          "transcript": "XM_047431453.1",
          "protein_id": "XP_047287409.1",
          "transcript_support_level": null,
          "aa_start": 1140,
          "aa_end": null,
          "aa_length": 1198,
          "cds_start": 3420,
          "cds_end": null,
          "cds_length": 3597,
          "cdna_start": null,
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          "verdict": "Uncertain_significance",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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}