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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: 19-43668036-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43668036&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 43668036,
      "ref": "T",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000340093.8",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "c.56-345A>C",
          "hgvs_p": null,
          "transcript": "NM_002659.4",
          "protein_id": "NP_002650.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1368,
          "mane_select": "ENST00000340093.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "c.56-345A>C",
          "hgvs_p": null,
          "transcript": "ENST00000340093.8",
          "protein_id": "ENSP00000339328.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1368,
          "mane_select": "NM_002659.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "c.56-345A>C",
          "hgvs_p": null,
          "transcript": "ENST00000221264.8",
          "protein_id": "ENSP00000221264.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 290,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 873,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1610,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "c.56-345A>C",
          "hgvs_p": null,
          "transcript": "ENST00000601723.5",
          "protein_id": "ENSP00000471881.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 286,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 861,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1205,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "c.56-345A>C",
          "hgvs_p": null,
          "transcript": "ENST00000339082.7",
          "protein_id": "ENSP00000342049.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 281,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 846,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1254,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "c.-220A>C",
          "hgvs_p": null,
          "transcript": "ENST00000593939.5",
          "protein_id": "ENSP00000472511.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 151,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 457,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 897,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "c.-236A>C",
          "hgvs_p": null,
          "transcript": "ENST00000599546.1",
          "protein_id": "ENSP00000468863.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 77,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 236,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 740,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "c.-220A>C",
          "hgvs_p": null,
          "transcript": "XM_017026872.3",
          "protein_id": "XP_016882361.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 330,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 993,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2273,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "c.-220A>C",
          "hgvs_p": null,
          "transcript": "XM_047438929.1",
          "protein_id": "XP_047294885.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 285,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 858,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2138,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "c.-220A>C",
          "hgvs_p": null,
          "transcript": "XM_047438930.1",
          "protein_id": "XP_047294886.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 281,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 846,
          "cdna_start": null,
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          "cdna_length": 2126,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "c.-220A>C",
          "hgvs_p": null,
          "transcript": "XM_047438931.1",
          "protein_id": "XP_047294887.1",
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          "aa_start": null,
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          "aa_length": 276,
          "cds_start": -4,
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          "cds_length": 831,
          "cdna_start": null,
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          "cdna_length": 1699,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "c.56-345A>C",
          "hgvs_p": null,
          "transcript": "NM_001005377.3",
          "protein_id": "NP_001005377.1",
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          "aa_length": 290,
          "cds_start": -4,
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        {
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 1,
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          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "c.56-345A>C",
          "hgvs_p": null,
          "transcript": "NM_001301037.2",
          "protein_id": "NP_001287966.1",
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          "cds_start": -4,
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          "cdna_start": null,
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          "feature": null
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        {
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          "strand": false,
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          ],
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          "intron_rank": 1,
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          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "c.56-345A>C",
          "hgvs_p": null,
          "transcript": "NM_001005376.3",
          "protein_id": "NP_001005376.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1257,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "strand": false,
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            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 1,
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          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "c.-21+241A>C",
          "hgvs_p": null,
          "transcript": "ENST00000599892.5",
          "protein_id": "ENSP00000470029.1",
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        {
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            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
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          "intron_rank": 1,
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          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "c.-21+8A>C",
          "hgvs_p": null,
          "transcript": "ENST00000602141.5",
          "protein_id": "ENSP00000471241.1",
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          "cdna_start": null,
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          "cdna_length": 679,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "n.55+2030A>C",
          "hgvs_p": null,
          "transcript": "ENST00000597107.1",
          "protein_id": "ENSP00000471307.1",
          "transcript_support_level": 5,
          "aa_start": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "n.103-345A>C",
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        {
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          ],
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          "gene_symbol": "PLAUR",
          "gene_hgnc_id": 9053,
          "hgvs_c": "n.104-345A>C",
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          "transcript": "ENST00000601876.1",
          "protein_id": null,
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        {
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          ],
          "exon_rank": null,
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          "exon_count": 2,
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          "gene_symbol": "ENSG00000308028",
          "gene_hgnc_id": null,
          "hgvs_c": "n.92-1990T>G",
          "hgvs_p": null,
          "transcript": "ENST00000830541.1",
          "protein_id": null,
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          "cdna_length": 566,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000308028",
          "gene_hgnc_id": null,
          "hgvs_c": "n.51-1990T>G",
          "hgvs_p": null,
          "transcript": "ENST00000830542.1",
          "protein_id": null,
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          "cdna_length": 510,
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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
}