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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: 19-30582097-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=30582097&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 30582097,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001376110.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ZNF536",
          "gene_hgnc_id": 29025,
          "hgvs_c": "c.3895+32583G>C",
          "hgvs_p": null,
          "transcript": "NM_001376110.1",
          "protein_id": "NP_001363039.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1379,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4140,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6876,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ZNF536",
          "gene_hgnc_id": 29025,
          "hgvs_c": "c.3895+32583G>C",
          "hgvs_p": null,
          "transcript": "NM_001376111.1",
          "protein_id": "NP_001363040.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1379,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4140,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6961,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ZNF536",
          "gene_hgnc_id": 29025,
          "hgvs_c": "c.3895+32583G>C",
          "hgvs_p": null,
          "transcript": "NM_001438953.1",
          "protein_id": "NP_001425882.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1379,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4140,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6927,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ZNF536",
          "gene_hgnc_id": 29025,
          "hgvs_c": "c.3895+32583G>C",
          "hgvs_p": null,
          "transcript": "ENST00000592773.3",
          "protein_id": "ENSP00000467909.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1379,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4140,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6814,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ZNF536",
          "gene_hgnc_id": 29025,
          "hgvs_c": "c.3895+32583G>C",
          "hgvs_p": null,
          "transcript": "NM_001352260.2",
          "protein_id": "NP_001339189.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6940,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ZNF536",
          "gene_hgnc_id": 29025,
          "hgvs_c": "c.3895+32583G>C",
          "hgvs_p": null,
          "transcript": "ENST00000706148.1",
          "protein_id": "ENSP00000516231.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3909,
          "cdna_start": null,
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          "cdna_length": 6854,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ZNF536",
          "gene_hgnc_id": 29025,
          "hgvs_c": "c.3895+32583G>C",
          "hgvs_p": null,
          "transcript": "ENST00000706150.1",
          "protein_id": "ENSP00000516233.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3909,
          "cdna_start": null,
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          "cdna_length": 6929,
          "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": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ZNF536",
          "gene_hgnc_id": 29025,
          "hgvs_c": "c.2323+47098G>C",
          "hgvs_p": null,
          "transcript": "ENST00000706147.1",
          "protein_id": "ENSP00000516230.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 855,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2568,
          "cdna_start": null,
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          "cdna_length": 4607,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 5,
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          "gene_symbol": "ZNF536",
          "gene_hgnc_id": 29025,
          "hgvs_c": "c.1648+32583G>C",
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          "transcript": "ENST00000706143.1",
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        {
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          "gene_symbol": "ZNF536",
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          "hgvs_c": "c.1648+32583G>C",
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