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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: 20-9338886-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=9338886&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "20",
      "pos": 9338886,
      "ref": "C",
      "alt": "T",
      "effect": "splice_region_variant,intron_variant",
      "transcript": "NM_001377142.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
          "hgvs_p": null,
          "transcript": "NM_001377142.1",
          "protein_id": "NP_001364071.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1206,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3621,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000378473.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001377142.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
          "hgvs_p": null,
          "transcript": "ENST00000378473.9",
          "protein_id": "ENSP00000367734.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1206,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3621,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001377142.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000378473.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
          "hgvs_p": null,
          "transcript": "ENST00000278655.9",
          "protein_id": "ENSP00000278655.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1157,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3474,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000278655.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
          "hgvs_p": null,
          "transcript": "ENST00000946820.1",
          "protein_id": "ENSP00000616879.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1210,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3633,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000946820.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
          "hgvs_p": null,
          "transcript": "ENST00000685298.1",
          "protein_id": "ENSP00000509390.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1209,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3630,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000685298.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
          "hgvs_p": null,
          "transcript": "NM_001377143.1",
          "protein_id": "NP_001364072.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1206,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3621,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001377143.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
          "hgvs_p": null,
          "transcript": "ENST00000685568.1",
          "protein_id": "ENSP00000508726.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1206,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3621,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000685568.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
          "hgvs_p": null,
          "transcript": "ENST00000920652.1",
          "protein_id": "ENSP00000590711.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1206,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3621,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000920652.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
          "hgvs_p": null,
          "transcript": "ENST00000946818.1",
          "protein_id": "ENSP00000616877.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1206,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3621,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000946818.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
          "hgvs_p": null,
          "transcript": "ENST00000946821.1",
          "protein_id": "ENSP00000616880.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1206,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3621,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000946821.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
          "hgvs_p": null,
          "transcript": "ENST00000946817.1",
          "protein_id": "ENSP00000616876.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1198,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3597,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000946817.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
          "hgvs_p": null,
          "transcript": "NM_000933.4",
          "protein_id": "NP_000924.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1194,
          "cds_start": null,
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          "cds_length": 3585,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_000933.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
          "hgvs_p": null,
          "transcript": "NM_001377134.2",
          "protein_id": "NP_001364063.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1194,
          "cds_start": null,
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          "cds_length": 3585,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001377134.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
          "hgvs_p": null,
          "transcript": "NM_001377135.1",
          "protein_id": "NP_001364064.1",
          "transcript_support_level": null,
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        },
        {
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          "canonical": false,
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          "consequences": [
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            "intron_variant"
          ],
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          "exon_count": 38,
          "intron_rank": 5,
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          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
          "hgvs_p": null,
          "transcript": "ENST00000378501.3",
          "protein_id": "ENSP00000367762.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
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          "cds_start": null,
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          "cds_length": 3585,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000378501.3"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
          "hgvs_p": null,
          "transcript": "ENST00000686313.1",
          "protein_id": "ENSP00000508595.1",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
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          "transcript": "ENST00000686871.1",
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        {
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            "intron_variant"
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          "intron_rank": 6,
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          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
          "hgvs_p": null,
          "transcript": "ENST00000686976.1",
          "protein_id": "ENSP00000508600.1",
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        {
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          "protein_coding": true,
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          "consequences": [
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            "intron_variant"
          ],
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          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
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          "transcript": "ENST00000693752.1",
          "protein_id": "ENSP00000508677.1",
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          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000693752.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "PLCB4",
          "gene_hgnc_id": 9059,
          "hgvs_c": "c.226-8C>T",
          "hgvs_p": null,
          "transcript": "ENST00000920653.1",
          "protein_id": "ENSP00000590712.1",
          "transcript_support_level": null,
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      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "B:1",
      "phenotype_combined": "Auriculocondylar syndrome 2",
      "pathogenicity_classification_combined": "Benign",
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  "message": null
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