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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: 10-27935233-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27935233&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 27935233,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000305242.10",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2272A>G",
          "hgvs_p": "p.Ile758Val",
          "transcript": "NM_018076.5",
          "protein_id": "NP_060546.2",
          "transcript_support_level": null,
          "aa_start": 758,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2272,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": 2396,
          "cdna_end": null,
          "cdna_length": 3603,
          "mane_select": "ENST00000305242.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2272A>G",
          "hgvs_p": "p.Ile758Val",
          "transcript": "ENST00000305242.10",
          "protein_id": "ENSP00000306410.5",
          "transcript_support_level": 1,
          "aa_start": 758,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2272,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": 2396,
          "cdna_end": null,
          "cdna_length": 3603,
          "mane_select": "NM_018076.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2272A>G",
          "hgvs_p": "p.Ile758Val",
          "transcript": "NM_001290020.2",
          "protein_id": "NP_001276949.1",
          "transcript_support_level": null,
          "aa_start": 758,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2272,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": 2405,
          "cdna_end": null,
          "cdna_length": 3612,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2272A>G",
          "hgvs_p": "p.Ile758Val",
          "transcript": "ENST00000673439.1",
          "protein_id": "ENSP00000500782.1",
          "transcript_support_level": null,
          "aa_start": 758,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2272,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": 2370,
          "cdna_end": null,
          "cdna_length": 3486,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.1348A>G",
          "hgvs_p": "p.Ile450Val",
          "transcript": "NM_001312689.2",
          "protein_id": "NP_001299618.1",
          "transcript_support_level": null,
          "aa_start": 450,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": 1348,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": 1535,
          "cdna_end": null,
          "cdna_length": 2742,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.1348A>G",
          "hgvs_p": "p.Ile450Val",
          "transcript": "ENST00000672841.1",
          "protein_id": "ENSP00000499983.1",
          "transcript_support_level": null,
          "aa_start": 450,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": 1348,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": 1631,
          "cdna_end": null,
          "cdna_length": 2840,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.847A>G",
          "hgvs_p": "p.Ile283Val",
          "transcript": "NM_001290021.2",
          "protein_id": "NP_001276950.1",
          "transcript_support_level": null,
          "aa_start": 283,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": 847,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": 1194,
          "cdna_end": null,
          "cdna_length": 2523,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.847A>G",
          "hgvs_p": "p.Ile283Val",
          "transcript": "ENST00000672877.1",
          "protein_id": "ENSP00000500120.1",
          "transcript_support_level": null,
          "aa_start": 283,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": 847,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": 1194,
          "cdna_end": null,
          "cdna_length": 2521,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2272A>G",
          "hgvs_p": "p.Ile758Val",
          "transcript": "XM_024448049.2",
          "protein_id": "XP_024303817.1",
          "transcript_support_level": null,
          "aa_start": 758,
          "aa_end": null,
          "aa_length": 1107,
          "cds_start": 2272,
          "cds_end": null,
          "cds_length": 3324,
          "cdna_start": 2405,
          "cdna_end": null,
          "cdna_length": 3801,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2272A>G",
          "hgvs_p": "p.Ile758Val",
          "transcript": "XM_024448050.2",
          "protein_id": "XP_024303818.1",
          "transcript_support_level": null,
          "aa_start": 758,
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          "cds_start": 2272,
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          "cdna_start": 2822,
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        {
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ODAD2",
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          "hgvs_c": "c.2272A>G",
          "hgvs_p": "p.Ile758Val",
          "transcript": "XM_024448051.2",
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          "cds_start": 2272,
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          "cdna_start": 2396,
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        {
          "aa_ref": "I",
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          "strand": false,
          "consequences": [
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          "exon_count": 22,
          "intron_rank": null,
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        {
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          ],
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          "gene_symbol": "ODAD2",
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        {
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          "intron_rank": null,
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          "gene_symbol": "ODAD2",
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        {
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        {
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          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2272A>G",
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        {
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          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2062A>G",
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          "transcript": "XM_047425407.1",
          "protein_id": "XP_047281363.1",
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        {
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          ],
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      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "US:2",
      "phenotype_combined": "Primary ciliary dyskinesia 23|Primary ciliary dyskinesia",
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  "message": null
}