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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: 6-28996134-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=28996134&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 28996134,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000377179.4",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF311",
          "gene_hgnc_id": 13847,
          "hgvs_c": "c.868C>G",
          "hgvs_p": "p.Leu290Val",
          "transcript": "NM_001382360.1",
          "protein_id": "NP_001369289.1",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 666,
          "cds_start": 868,
          "cds_end": null,
          "cds_length": 2001,
          "cdna_start": 1436,
          "cdna_end": null,
          "cdna_length": 2782,
          "mane_select": "ENST00000377179.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF311",
          "gene_hgnc_id": 13847,
          "hgvs_c": "c.868C>G",
          "hgvs_p": "p.Leu290Val",
          "transcript": "ENST00000377179.4",
          "protein_id": "ENSP00000366384.3",
          "transcript_support_level": 5,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 666,
          "cds_start": 868,
          "cds_end": null,
          "cds_length": 2001,
          "cdna_start": 1436,
          "cdna_end": null,
          "cdna_length": 2782,
          "mane_select": "NM_001382360.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF311",
          "gene_hgnc_id": 13847,
          "hgvs_c": "c.868C>G",
          "hgvs_p": "p.Leu290Val",
          "transcript": "NM_001010877.5",
          "protein_id": "NP_001010877.2",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 666,
          "cds_start": 868,
          "cds_end": null,
          "cds_length": 2001,
          "cdna_start": 1275,
          "cdna_end": null,
          "cdna_length": 2621,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF311",
          "gene_hgnc_id": 13847,
          "hgvs_c": "c.724C>G",
          "hgvs_p": "p.Leu242Val",
          "transcript": "NM_001350637.4",
          "protein_id": "NP_001337566.1",
          "transcript_support_level": null,
          "aa_start": 242,
          "aa_end": null,
          "aa_length": 618,
          "cds_start": 724,
          "cds_end": null,
          "cds_length": 1857,
          "cdna_start": 1384,
          "cdna_end": null,
          "cdna_length": 2730,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF311",
          "gene_hgnc_id": 13847,
          "hgvs_c": "c.967C>G",
          "hgvs_p": "p.Leu323Val",
          "transcript": "XM_005249019.5",
          "protein_id": "XP_005249076.1",
          "transcript_support_level": null,
          "aa_start": 323,
          "aa_end": null,
          "aa_length": 699,
          "cds_start": 967,
          "cds_end": null,
          "cds_length": 2100,
          "cdna_start": 1386,
          "cdna_end": null,
          "cdna_length": 2732,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF311",
          "gene_hgnc_id": 13847,
          "hgvs_c": "c.967C>G",
          "hgvs_p": "p.Leu323Val",
          "transcript": "XM_006715067.4",
          "protein_id": "XP_006715130.1",
          "transcript_support_level": null,
          "aa_start": 323,
          "aa_end": null,
          "aa_length": 699,
          "cds_start": 967,
          "cds_end": null,
          "cds_length": 2100,
          "cdna_start": 1535,
          "cdna_end": null,
          "cdna_length": 2881,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF311",
          "gene_hgnc_id": 13847,
          "hgvs_c": "c.967C>G",
          "hgvs_p": "p.Leu323Val",
          "transcript": "XM_011514510.3",
          "protein_id": "XP_011512812.1",
          "transcript_support_level": null,
          "aa_start": 323,
          "aa_end": null,
          "aa_length": 699,
          "cds_start": 967,
          "cds_end": null,
          "cds_length": 2100,
          "cdna_start": 2520,
          "cdna_end": null,
          "cdna_length": 3866,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF311",
          "gene_hgnc_id": 13847,
          "hgvs_c": "c.967C>G",
          "hgvs_p": "p.Leu323Val",
          "transcript": "XM_011514511.3",
          "protein_id": "XP_011512813.1",
          "transcript_support_level": null,
          "aa_start": 323,
          "aa_end": null,
          "aa_length": 699,
          "cds_start": 967,
          "cds_end": null,
          "cds_length": 2100,
          "cdna_start": 2211,
          "cdna_end": null,
          "cdna_length": 3557,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF311",
          "gene_hgnc_id": 13847,
          "hgvs_c": "c.967C>G",
          "hgvs_p": "p.Leu323Val",
          "transcript": "XM_017010756.2",
          "protein_id": "XP_016866245.1",
          "transcript_support_level": null,
          "aa_start": 323,
          "aa_end": null,
          "aa_length": 699,
          "cds_start": 967,
          "cds_end": null,
          "cds_length": 2100,
          "cdna_start": 1272,
          "cdna_end": null,
          "cdna_length": 2618,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF311",
          "gene_hgnc_id": 13847,
          "hgvs_c": "c.967C>G",
          "hgvs_p": "p.Leu323Val",
          "transcript": "XM_017010757.2",
          "protein_id": "XP_016866246.1",
          "transcript_support_level": null,
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          "cds_start": 967,
          "cds_end": null,
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          "cdna_start": 1123,
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          "mane_select": null,
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        {
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          "strand": false,
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          ],
          "exon_rank": 7,
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          "exon_count": 7,
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          "gene_symbol": "ZNF311",
          "gene_hgnc_id": 13847,
          "hgvs_c": "c.943C>G",
          "hgvs_p": "p.Leu315Val",
          "transcript": "XM_011514512.3",
          "protein_id": "XP_011512814.1",
          "transcript_support_level": null,
          "aa_start": 315,
          "aa_end": null,
          "aa_length": 691,
          "cds_start": 943,
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          "cdna_start": 2496,
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          "cdna_length": 3842,
          "mane_select": null,
          "mane_plus": null,
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        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "ZNF311",
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          "hgvs_c": "c.943C>G",
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        {
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        {
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          ],
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          "gene_symbol": "ZNF311",
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          "hgvs_c": "c.943C>G",
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        {
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        {
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          "gene_symbol": "ZNF311",
          "gene_hgnc_id": 13847,
          "hgvs_c": "c.940C>G",
          "hgvs_p": "p.Leu314Val",
          "transcript": "XM_011514513.3",
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        {
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          "gene_symbol": "ZNF311",
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        {
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        {
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          "gene_symbol": "ZNF311",
          "gene_hgnc_id": 13847,
          "hgvs_c": "c.892C>G",
          "hgvs_p": "p.Leu298Val",
          "transcript": "XM_011514514.3",
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        },
        {
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          "consequences": [
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          "intron_rank": null,
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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
}