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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: 10-32567517-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=32567517&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 32567517,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000639629.2",
      "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": 44,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "CCDC7",
          "gene_hgnc_id": 26533,
          "hgvs_c": "c.1198-153A>G",
          "hgvs_p": null,
          "transcript": "NM_001395015.1",
          "protein_id": "NP_001381944.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1385,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4158,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4826,
          "mane_select": "ENST00000639629.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "CCDC7",
          "gene_hgnc_id": 26533,
          "hgvs_c": "c.1198-153A>G",
          "hgvs_p": null,
          "transcript": "ENST00000639629.2",
          "protein_id": "ENSP00000491655.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1385,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4158,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4826,
          "mane_select": "NM_001395015.1",
          "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": 18,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "CCDC7",
          "gene_hgnc_id": 26533,
          "hgvs_c": "c.1198-153A>G",
          "hgvs_p": null,
          "transcript": "ENST00000277657.12",
          "protein_id": "ENSP00000277657.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 486,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1461,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1899,
          "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": 18,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "CCDC7",
          "gene_hgnc_id": 26533,
          "hgvs_c": "c.1198-153A>G",
          "hgvs_p": null,
          "transcript": "ENST00000362006.11",
          "protein_id": "ENSP00000355078.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 486,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1461,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2133,
          "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": 44,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "CCDC7",
          "gene_hgnc_id": 26533,
          "hgvs_c": "c.1198-153A>G",
          "hgvs_p": null,
          "transcript": "NM_001321115.2",
          "protein_id": "NP_001308044.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1385,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4158,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5060,
          "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": 15,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "CCDC7",
          "gene_hgnc_id": 26533,
          "hgvs_c": "c.681+1897A>G",
          "hgvs_p": null,
          "transcript": "NM_001395233.1",
          "protein_id": "NP_001382162.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3902,
          "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": 18,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "CCDC7",
          "gene_hgnc_id": 26533,
          "hgvs_c": "c.1198-153A>G",
          "hgvs_p": null,
          "transcript": "NM_001026383.3",
          "protein_id": "NP_001021554.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 486,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1461,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1896,
          "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": 18,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "CCDC7",
          "gene_hgnc_id": 26533,
          "hgvs_c": "c.1198-153A>G",
          "hgvs_p": null,
          "transcript": "NM_145023.6",
          "protein_id": "NP_659460.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 486,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1461,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2130,
          "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": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CCDC7",
          "gene_hgnc_id": 26533,
          "hgvs_c": "c.205-153A>G",
          "hgvs_p": null,
          "transcript": "ENST00000639041.1",
          "protein_id": "ENSP00000490962.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 159,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 482,
          "cdna_start": null,
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          "cdna_length": 482,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 17,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "CCDC7",
          "gene_hgnc_id": 26533,
          "hgvs_c": "n.*318-153A>G",
          "hgvs_p": null,
          "transcript": "ENST00000476558.7",
          "protein_id": "ENSP00000436435.3",
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1819,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          "intron_rank": 14,
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          "gene_symbol": "CCDC7",
          "gene_hgnc_id": 26533,
          "hgvs_c": "n.1431-153A>G",
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          "transcript": "NR_109826.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "mane_select": null,
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        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 15,
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          "gene_symbol": "CCDC7",
          "gene_hgnc_id": 26533,
          "hgvs_c": "c.1198-153A>G",
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          "transcript": "XM_047425742.1",
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          "gene_symbol": "CCDC7",
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          "hgvs_c": "c.1198-153A>G",
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          "gene_symbol": "CCDC7",
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          "transcript": "XM_011519664.1",
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        {
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          "gene_symbol": "CCDC7",
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      "clinvar_disease": "",
      "clinvar_classification": "",
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  "message": null
}