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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: 8-140397676-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=140397676&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 140397676,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001374682.1",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAPPC9",
          "gene_hgnc_id": 30832,
          "hgvs_c": "c.1078C>T",
          "hgvs_p": "p.Arg360Trp",
          "transcript": "NM_001160372.4",
          "protein_id": "NP_001153844.1",
          "transcript_support_level": null,
          "aa_start": 360,
          "aa_end": null,
          "aa_length": 1148,
          "cds_start": 1078,
          "cds_end": null,
          "cds_length": 3447,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000438773.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001160372.4"
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAPPC9",
          "gene_hgnc_id": 30832,
          "hgvs_c": "c.1078C>T",
          "hgvs_p": "p.Arg360Trp",
          "transcript": "ENST00000438773.4",
          "protein_id": "ENSP00000405060.3",
          "transcript_support_level": 1,
          "aa_start": 360,
          "aa_end": null,
          "aa_length": 1148,
          "cds_start": 1078,
          "cds_end": null,
          "cds_length": 3447,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001160372.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000438773.4"
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAPPC9",
          "gene_hgnc_id": 30832,
          "hgvs_c": "c.607C>T",
          "hgvs_p": "p.Arg203Trp",
          "transcript": "ENST00000520857.5",
          "protein_id": "ENSP00000430116.1",
          "transcript_support_level": 1,
          "aa_start": 203,
          "aa_end": null,
          "aa_length": 991,
          "cds_start": 607,
          "cds_end": null,
          "cds_length": 2976,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000520857.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAPPC9",
          "gene_hgnc_id": 30832,
          "hgvs_c": "c.1099C>T",
          "hgvs_p": "p.Arg367Trp",
          "transcript": "NM_001374682.1",
          "protein_id": "NP_001361611.1",
          "transcript_support_level": null,
          "aa_start": 367,
          "aa_end": null,
          "aa_length": 1155,
          "cds_start": 1099,
          "cds_end": null,
          "cds_length": 3468,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001374682.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAPPC9",
          "gene_hgnc_id": 30832,
          "hgvs_c": "c.1099C>T",
          "hgvs_p": "p.Arg367Trp",
          "transcript": "ENST00000889106.1",
          "protein_id": "ENSP00000559165.1",
          "transcript_support_level": null,
          "aa_start": 367,
          "aa_end": null,
          "aa_length": 1155,
          "cds_start": 1099,
          "cds_end": null,
          "cds_length": 3468,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000889106.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAPPC9",
          "gene_hgnc_id": 30832,
          "hgvs_c": "c.1078C>T",
          "hgvs_p": "p.Arg360Trp",
          "transcript": "NM_031466.8",
          "protein_id": "NP_113654.5",
          "transcript_support_level": null,
          "aa_start": 360,
          "aa_end": null,
          "aa_length": 1148,
          "cds_start": 1078,
          "cds_end": null,
          "cds_length": 3447,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_031466.8"
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAPPC9",
          "gene_hgnc_id": 30832,
          "hgvs_c": "c.1078C>T",
          "hgvs_p": "p.Arg360Trp",
          "transcript": "ENST00000648948.2",
          "protein_id": "ENSP00000498020.1",
          "transcript_support_level": null,
          "aa_start": 360,
          "aa_end": null,
          "aa_length": 1148,
          "cds_start": 1078,
          "cds_end": null,
          "cds_length": 3447,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000648948.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAPPC9",
          "gene_hgnc_id": 30832,
          "hgvs_c": "c.1078C>T",
          "hgvs_p": "p.Arg360Trp",
          "transcript": "ENST00000889103.1",
          "protein_id": "ENSP00000559162.1",
          "transcript_support_level": null,
          "aa_start": 360,
          "aa_end": null,
          "aa_length": 1148,
          "cds_start": 1078,
          "cds_end": null,
          "cds_length": 3447,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000889103.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAPPC9",
          "gene_hgnc_id": 30832,
          "hgvs_c": "c.1078C>T",
          "hgvs_p": "p.Arg360Trp",
          "transcript": "ENST00000889105.1",
          "protein_id": "ENSP00000559164.1",
          "transcript_support_level": null,
          "aa_start": 360,
          "aa_end": null,
          "aa_length": 1148,
          "cds_start": 1078,
          "cds_end": null,
          "cds_length": 3447,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000889105.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAPPC9",
          "gene_hgnc_id": 30832,
          "hgvs_c": "c.1078C>T",
          "hgvs_p": "p.Arg360Trp",
          "transcript": "ENST00000889109.1",
          "protein_id": "ENSP00000559168.1",
          "transcript_support_level": null,
          "aa_start": 360,
          "aa_end": null,
          "aa_length": 1148,
          "cds_start": 1078,
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          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
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          "gene_symbol": "TRAPPC9",
          "gene_hgnc_id": 30832,
          "hgvs_c": "c.1078C>T",
          "hgvs_p": "p.Arg360Trp",
          "transcript": "ENST00000967712.1",
          "protein_id": "ENSP00000637771.1",
          "transcript_support_level": null,
          "aa_start": 360,
          "aa_end": null,
          "aa_length": 1146,
          "cds_start": 1078,
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          "cds_length": 3441,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000967712.1"
        },
        {
          "aa_ref": "R",
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
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          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "TRAPPC9",
          "gene_hgnc_id": 30832,
          "hgvs_c": "c.1051C>T",
          "hgvs_p": "p.Arg351Trp",
          "transcript": "NM_001321646.2",
          "protein_id": "NP_001308575.1",
          "transcript_support_level": null,
          "aa_start": 351,
          "aa_end": null,
          "aa_length": 1139,
          "cds_start": 1051,
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          "cds_length": 3420,
          "cdna_start": null,
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        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
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          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "TRAPPC9",
          "gene_hgnc_id": 30832,
          "hgvs_c": "c.1051C>T",
          "hgvs_p": "p.Arg351Trp",
          "transcript": "ENST00000920031.1",
          "protein_id": "ENSP00000590090.1",
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          "aa_start": 351,
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          "cds_start": 1051,
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          "biotype": "protein_coding",
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        {
          "aa_ref": "R",
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          "strand": false,
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          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "TRAPPC9",
          "gene_hgnc_id": 30832,
          "hgvs_c": "c.1051C>T",
          "hgvs_p": "p.Arg351Trp",
          "transcript": "ENST00000920035.1",
          "protein_id": "ENSP00000590094.1",
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        {
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          "gene_symbol": "TRAPPC9",
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          "hgvs_c": "c.1078C>T",
          "hgvs_p": "p.Arg360Trp",
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          "feature": "NM_001374683.1"
        },
        {
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          ],
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          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "TRAPPC9",
          "gene_hgnc_id": 30832,
          "hgvs_c": "c.1078C>T",
          "hgvs_p": "p.Arg360Trp",
          "transcript": "ENST00000967713.1",
          "protein_id": "ENSP00000637772.1",
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        {
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          ],
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          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "TRAPPC9",
          "gene_hgnc_id": 30832,
          "hgvs_c": "c.949C>T",
          "hgvs_p": "p.Arg317Trp",
          "transcript": "ENST00000889107.1",
          "protein_id": "ENSP00000559166.1",
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          "gene_symbol": "TRAPPC9",
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          "hgvs_c": "c.1078C>T",
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          "transcript": "NM_001374684.1",
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          "biotype": "protein_coding",
          "feature": "NM_001374684.1"
        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 7,
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          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAPPC9",
          "gene_hgnc_id": 30832,
          "hgvs_c": "c.1078C>T",
          "hgvs_p": "p.Arg360Trp",
          "transcript": "ENST00000889102.1",
          "protein_id": "ENSP00000559161.1",
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      "clinvar_submissions_summary": "US:2",
      "phenotype_combined": "not specified|Inborn genetic diseases",
      "pathogenicity_classification_combined": "Uncertain significance",
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  "message": null
}