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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: 19-11576377-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11576377&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 11576377,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000648477.1",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP5",
          "gene_hgnc_id": 124,
          "hgvs_c": "c.601C>A",
          "hgvs_p": "p.Leu201Met",
          "transcript": "NM_001611.5",
          "protein_id": "NP_001602.1",
          "transcript_support_level": null,
          "aa_start": 201,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": 601,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": 654,
          "cdna_end": null,
          "cdna_length": 1381,
          "mane_select": "ENST00000648477.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP5",
          "gene_hgnc_id": 124,
          "hgvs_c": "c.601C>A",
          "hgvs_p": "p.Leu201Met",
          "transcript": "ENST00000648477.1",
          "protein_id": "ENSP00000496973.1",
          "transcript_support_level": null,
          "aa_start": 201,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": 601,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": 654,
          "cdna_end": null,
          "cdna_length": 1381,
          "mane_select": "NM_001611.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP5",
          "gene_hgnc_id": 124,
          "hgvs_c": "c.601C>A",
          "hgvs_p": "p.Leu201Met",
          "transcript": "ENST00000218758.10",
          "protein_id": "ENSP00000218758.4",
          "transcript_support_level": 1,
          "aa_start": 201,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": 601,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": 1025,
          "cdna_end": null,
          "cdna_length": 1752,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP5",
          "gene_hgnc_id": 124,
          "hgvs_c": "c.601C>A",
          "hgvs_p": "p.Leu201Met",
          "transcript": "NM_001111034.3",
          "protein_id": "NP_001104504.1",
          "transcript_support_level": null,
          "aa_start": 201,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": 601,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": 844,
          "cdna_end": null,
          "cdna_length": 1571,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP5",
          "gene_hgnc_id": 124,
          "hgvs_c": "c.601C>A",
          "hgvs_p": "p.Leu201Met",
          "transcript": "NM_001111035.3",
          "protein_id": "NP_001104505.1",
          "transcript_support_level": null,
          "aa_start": 201,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": 601,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": 893,
          "cdna_end": null,
          "cdna_length": 1620,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP5",
          "gene_hgnc_id": 124,
          "hgvs_c": "c.601C>A",
          "hgvs_p": "p.Leu201Met",
          "transcript": "NM_001111036.3",
          "protein_id": "NP_001104506.1",
          "transcript_support_level": null,
          "aa_start": 201,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": 601,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": 820,
          "cdna_end": null,
          "cdna_length": 1547,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP5",
          "gene_hgnc_id": 124,
          "hgvs_c": "c.601C>A",
          "hgvs_p": "p.Leu201Met",
          "transcript": "NM_001322023.2",
          "protein_id": "NP_001308952.1",
          "transcript_support_level": null,
          "aa_start": 201,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": 601,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": 922,
          "cdna_end": null,
          "cdna_length": 1649,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP5",
          "gene_hgnc_id": 124,
          "hgvs_c": "c.601C>A",
          "hgvs_p": "p.Leu201Met",
          "transcript": "NM_001439233.1",
          "protein_id": "NP_001426162.1",
          "transcript_support_level": null,
          "aa_start": 201,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": 601,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": 1000,
          "cdna_end": null,
          "cdna_length": 1727,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP5",
          "gene_hgnc_id": 124,
          "hgvs_c": "c.601C>A",
          "hgvs_p": "p.Leu201Met",
          "transcript": "NM_001439234.1",
          "protein_id": "NP_001426163.1",
          "transcript_support_level": null,
          "aa_start": 201,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": 601,
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          "cds_length": 978,
          "cdna_start": 998,
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          "cdna_length": 1725,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACP5",
          "gene_hgnc_id": 124,
          "hgvs_c": "c.601C>A",
          "hgvs_p": "p.Leu201Met",
          "transcript": "NM_001439235.1",
          "protein_id": "NP_001426164.1",
          "transcript_support_level": null,
          "aa_start": 201,
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          "aa_length": 325,
          "cds_start": 601,
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          "cdna_start": 1064,
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          "mane_select": null,
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        },
        {
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          "exon_count": 8,
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          "gene_symbol": "ACP5",
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          "hgvs_c": "c.601C>A",
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          "mane_select": null,
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        },
        {
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          "consequences": [
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          "intron_rank": null,
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          "gene_symbol": "ACP5",
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          "intron_rank": null,
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          "gene_symbol": "ACP5",
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          "hgvs_c": "c.601C>A",
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        {
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          "gene_symbol": "ACP5",
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          "hgvs_c": "c.601C>A",
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          "transcript": "ENST00000590832.2",
          "protein_id": "ENSP00000465127.2",
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        },
        {
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          "gene_symbol": "ACP5",
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        {
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          "gene_symbol": "ACP5",
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        {
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        },
        {
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "ACP5",
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          "hgvs_c": "c.598C>A",
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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
}