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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: 10-94031056-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=94031056&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 94031056,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_016341.4",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCE1",
          "gene_hgnc_id": 17175,
          "hgvs_c": "c.10G>A",
          "hgvs_p": "p.Glu4Lys",
          "transcript": "NM_016341.4",
          "protein_id": "NP_057425.3",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 2302,
          "cds_start": 10,
          "cds_end": null,
          "cds_length": 6909,
          "cdna_start": 702,
          "cdna_end": null,
          "cdna_length": 12481,
          "mane_select": "ENST00000371380.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCE1",
          "gene_hgnc_id": 17175,
          "hgvs_c": "c.10G>A",
          "hgvs_p": "p.Glu4Lys",
          "transcript": "ENST00000371380.8",
          "protein_id": "ENSP00000360431.2",
          "transcript_support_level": 1,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 2302,
          "cds_start": 10,
          "cds_end": null,
          "cds_length": 6909,
          "cdna_start": 702,
          "cdna_end": null,
          "cdna_length": 12481,
          "mane_select": "NM_016341.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCE1",
          "gene_hgnc_id": 17175,
          "hgvs_c": "c.10G>A",
          "hgvs_p": "p.Glu4Lys",
          "transcript": "NM_001288989.2",
          "protein_id": "NP_001275918.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 2286,
          "cds_start": 10,
          "cds_end": null,
          "cds_length": 6861,
          "cdna_start": 702,
          "cdna_end": null,
          "cdna_length": 12433,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCE1",
          "gene_hgnc_id": 17175,
          "hgvs_c": "c.10G>A",
          "hgvs_p": "p.Glu4Lys",
          "transcript": "ENST00000692396.1",
          "protein_id": "ENSP00000508605.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 2286,
          "cds_start": 10,
          "cds_end": null,
          "cds_length": 6861,
          "cdna_start": 599,
          "cdna_end": null,
          "cdna_length": 9157,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCE1",
          "gene_hgnc_id": 17175,
          "hgvs_c": "c.10G>A",
          "hgvs_p": "p.Glu4Lys",
          "transcript": "ENST00000692286.1",
          "protein_id": "ENSP00000509490.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 2230,
          "cds_start": 10,
          "cds_end": null,
          "cds_length": 6694,
          "cdna_start": 340,
          "cdna_end": null,
          "cdna_length": 7024,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCE1",
          "gene_hgnc_id": 17175,
          "hgvs_c": "c.10G>A",
          "hgvs_p": "p.Glu4Lys",
          "transcript": "XM_006717885.5",
          "protein_id": "XP_006717948.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 2316,
          "cds_start": 10,
          "cds_end": null,
          "cds_length": 6951,
          "cdna_start": 702,
          "cdna_end": null,
          "cdna_length": 12523,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCE1",
          "gene_hgnc_id": 17175,
          "hgvs_c": "c.10G>A",
          "hgvs_p": "p.Glu4Lys",
          "transcript": "XM_017016310.3",
          "protein_id": "XP_016871799.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 2316,
          "cds_start": 10,
          "cds_end": null,
          "cds_length": 6951,
          "cdna_start": 749,
          "cdna_end": null,
          "cdna_length": 12570,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCE1",
          "gene_hgnc_id": 17175,
          "hgvs_c": "c.10G>A",
          "hgvs_p": "p.Glu4Lys",
          "transcript": "XM_017016311.3",
          "protein_id": "XP_016871800.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 2316,
          "cds_start": 10,
          "cds_end": null,
          "cds_length": 6951,
          "cdna_start": 702,
          "cdna_end": null,
          "cdna_length": 10857,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLCE1",
          "gene_hgnc_id": 17175,
          "hgvs_c": "c.10G>A",
          "hgvs_p": "p.Glu4Lys",
          "transcript": "XM_047425284.1",
          "protein_id": "XP_047281240.1",
          "transcript_support_level": null,
          "aa_start": 4,
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          "aa_length": 2316,
          "cds_start": 10,
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          "cdna_start": 428,
          "cdna_end": null,
          "cdna_length": 12249,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "E",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
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          "exon_count": 34,
          "intron_rank": null,
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          "gene_symbol": "PLCE1",
          "gene_hgnc_id": 17175,
          "hgvs_c": "c.10G>A",
          "hgvs_p": "p.Glu4Lys",
          "transcript": "XM_047425285.1",
          "protein_id": "XP_047281241.1",
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          "cdna_start": 2184,
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        {
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          "mane_select": null,
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        {
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        {
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        {
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      "clinvar_disease": "",
      "clinvar_classification": "",
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      "custom_annotations": null
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  "message": null
}