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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: 1-90917078-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=90917078&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 90917078,
      "ref": "C",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000337393.10",
      "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": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ZNF644",
          "gene_hgnc_id": 29222,
          "hgvs_c": "c.3792-88G>C",
          "hgvs_p": null,
          "transcript": "NM_201269.3",
          "protein_id": "NP_958357.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1327,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3984,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5541,
          "mane_select": "ENST00000337393.10",
          "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": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ZNF644",
          "gene_hgnc_id": 29222,
          "hgvs_c": "c.3792-88G>C",
          "hgvs_p": null,
          "transcript": "ENST00000337393.10",
          "protein_id": "ENSP00000337008.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1327,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3984,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5541,
          "mane_select": "NM_201269.3",
          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ZNF644",
          "gene_hgnc_id": 29222,
          "hgvs_c": "c.126-88G>C",
          "hgvs_p": null,
          "transcript": "ENST00000347275.9",
          "protein_id": "ENSP00000340828.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 105,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 318,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2036,
          "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": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "ZNF644",
          "gene_hgnc_id": 29222,
          "hgvs_c": "c.3915-88G>C",
          "hgvs_p": null,
          "transcript": "NM_001437612.1",
          "protein_id": "NP_001424541.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1368,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4107,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6487,
          "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": 6,
          "intron_rank_end": null,
          "gene_symbol": "ZNF644",
          "gene_hgnc_id": 29222,
          "hgvs_c": "c.3915-88G>C",
          "hgvs_p": null,
          "transcript": "NM_001437613.1",
          "protein_id": "NP_001424542.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1368,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4107,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5965,
          "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": 5,
          "intron_rank_end": null,
          "gene_symbol": "ZNF644",
          "gene_hgnc_id": 29222,
          "hgvs_c": "c.3792-88G>C",
          "hgvs_p": null,
          "transcript": "NM_001437610.1",
          "protein_id": "NP_001424539.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1327,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3984,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5706,
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ZNF644",
          "gene_hgnc_id": 29222,
          "hgvs_c": "c.3792-88G>C",
          "hgvs_p": null,
          "transcript": "NM_001437611.1",
          "protein_id": "NP_001424540.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1327,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3984,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6364,
          "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": 5,
          "intron_rank_end": null,
          "gene_symbol": "ZNF644",
          "gene_hgnc_id": 29222,
          "hgvs_c": "c.3792-88G>C",
          "hgvs_p": null,
          "transcript": "ENST00000370440.5",
          "protein_id": "ENSP00000359469.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1327,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3984,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5702,
          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ZNF644",
          "gene_hgnc_id": 29222,
          "hgvs_c": "c.126-88G>C",
          "hgvs_p": null,
          "transcript": "NM_016620.4",
          "protein_id": "NP_057704.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 105,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 318,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2062,
          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ZNF644",
          "gene_hgnc_id": 29222,
          "hgvs_c": "c.126-88G>C",
          "hgvs_p": null,
          "transcript": "NM_032186.5",
          "protein_id": "NP_115562.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 105,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 318,
          "cdna_start": null,
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          "cdna_length": 1897,
          "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,
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          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ZNF644",
          "gene_hgnc_id": 29222,
          "hgvs_c": "c.126-88G>C",
          "hgvs_p": null,
          "transcript": "ENST00000361321.5",
          "protein_id": "ENSP00000354659.5",
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": 105,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 318,
          "cdna_start": null,
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          "cdna_length": 1253,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ZNF644",
          "gene_hgnc_id": 29222,
          "hgvs_c": "n.251-88G>C",
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          "transcript": "ENST00000467231.5",
          "protein_id": null,
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          "cds_start": -4,
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF644",
          "gene_hgnc_id": 29222,
          "hgvs_c": "n.225-88G>C",
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          "transcript": "ENST00000479798.1",
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        {
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          ],
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          "gene_symbol": "ZNF644",
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          "hgvs_c": "n.341-88G>C",
          "hgvs_p": null,
          "transcript": "ENST00000482709.1",
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          "cdna_length": 540,
          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          ],
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          "intron_rank": 7,
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          "gene_symbol": "ZNF644",
          "gene_hgnc_id": 29222,
          "hgvs_c": "c.3915-88G>C",
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          "transcript": "XM_005271257.6",
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          "gene_symbol": "ZNF644",
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          "hgvs_c": "c.3915-88G>C",
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          "transcript": "XM_011542258.4",
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        {
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          "exon_count": 7,
          "intron_rank": 6,
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          "gene_symbol": "ZNF644",
          "gene_hgnc_id": 29222,
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          "transcript": "XM_011542261.4",
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        {
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          "consequences": [
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          ],
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          "exon_count": 7,
          "intron_rank": 6,
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          "gene_symbol": "ZNF644",
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          "hgvs_c": "c.3915-88G>C",
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        {
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          ],
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          "intron_rank": 6,
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          "gene_symbol": "ZNF644",
          "gene_hgnc_id": 29222,
          "hgvs_c": "c.3792-88G>C",
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          "transcript": "XM_017002488.3",
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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
}