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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: 2-207125314-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=207125314&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 207125314,
      "ref": "A",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000309446.11",
      "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KLF7",
          "gene_hgnc_id": 6350,
          "hgvs_c": "c.103-910T>G",
          "hgvs_p": null,
          "transcript": "NM_003709.4",
          "protein_id": "NP_003700.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8365,
          "mane_select": "ENST00000309446.11",
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KLF7",
          "gene_hgnc_id": 6350,
          "hgvs_c": "c.103-910T>G",
          "hgvs_p": null,
          "transcript": "ENST00000309446.11",
          "protein_id": "ENSP00000309570.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8365,
          "mane_select": "NM_003709.4",
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KLF7",
          "gene_hgnc_id": 6350,
          "hgvs_c": "c.4-910T>G",
          "hgvs_p": null,
          "transcript": "ENST00000421199.5",
          "protein_id": "ENSP00000387510.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 269,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 810,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3037,
          "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": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "KLF7",
          "gene_hgnc_id": 6350,
          "hgvs_c": "c.103-910T>G",
          "hgvs_p": null,
          "transcript": "ENST00000423015.5",
          "protein_id": "ENSP00000398572.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 230,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 693,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1788,
          "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": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "KLF7",
          "gene_hgnc_id": 6350,
          "hgvs_c": "c.103-910T>G",
          "hgvs_p": null,
          "transcript": "ENST00000458272.2",
          "protein_id": "ENSP00000393268.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 112,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 339,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2654,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "KLF7",
          "gene_hgnc_id": 6350,
          "hgvs_c": "c.19-910T>G",
          "hgvs_p": null,
          "transcript": "NM_001270944.2",
          "protein_id": "NP_001257873.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 274,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 825,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7954,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "KLF7",
          "gene_hgnc_id": 6350,
          "hgvs_c": "c.19-910T>G",
          "hgvs_p": null,
          "transcript": "ENST00000435602.2",
          "protein_id": "ENSP00000413590.2",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 274,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 825,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2978,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "KLF7",
          "gene_hgnc_id": 6350,
          "hgvs_c": "c.4-910T>G",
          "hgvs_p": null,
          "transcript": "NM_001270943.2",
          "protein_id": "NP_001257872.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 269,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 810,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7990,
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KLF7",
          "gene_hgnc_id": 6350,
          "hgvs_c": "c.103-910T>G",
          "hgvs_p": null,
          "transcript": "ENST00000703689.1",
          "protein_id": "ENSP00000515426.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 256,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 771,
          "cdna_start": null,
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          "cdna_length": 3121,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "KLF7",
          "gene_hgnc_id": 6350,
          "hgvs_c": "c.103-910T>G",
          "hgvs_p": null,
          "transcript": "NM_001270942.1",
          "protein_id": "NP_001257871.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 230,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 693,
          "cdna_start": null,
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          "cdna_length": 8021,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 4,
          "intron_rank": 1,
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          "gene_symbol": "KLF7",
          "gene_hgnc_id": 6350,
          "hgvs_c": "c.103-910T>G",
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          "transcript": "NM_001438026.1",
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          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "intron_rank": 1,
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          "gene_symbol": "KLF7",
          "gene_hgnc_id": 6350,
          "hgvs_c": "c.103-910T>G",
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        {
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          "gene_symbol": "KLF7",
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          "transcript": "ENST00000703736.1",
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        {
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        {
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        {
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        {
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          "gene_symbol": "KLF7",
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          ],
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          "gene_symbol": "KLF7",
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          "transcript": "XM_047446144.1",
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      "clinvar_disease": "",
      "clinvar_classification": "",
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      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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  "message": null
}