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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: 9-35092166-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35092166&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 35092166,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_032634.4",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGO",
          "gene_hgnc_id": 23215,
          "hgvs_c": "c.1721C>A",
          "hgvs_p": "p.Pro574His",
          "transcript": "NM_032634.4",
          "protein_id": "NP_116023.2",
          "transcript_support_level": null,
          "aa_start": 574,
          "aa_end": null,
          "aa_length": 1089,
          "cds_start": 1721,
          "cds_end": null,
          "cds_length": 3270,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000378617.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_032634.4"
        },
        {
          "aa_ref": "P",
          "aa_alt": "H",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGO",
          "gene_hgnc_id": 23215,
          "hgvs_c": "c.1721C>A",
          "hgvs_p": "p.Pro574His",
          "transcript": "ENST00000378617.4",
          "protein_id": "ENSP00000367880.3",
          "transcript_support_level": 1,
          "aa_start": 574,
          "aa_end": null,
          "aa_length": 1089,
          "cds_start": 1721,
          "cds_end": null,
          "cds_length": 3270,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_032634.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000378617.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "PIGO",
          "gene_hgnc_id": 23215,
          "hgvs_c": "c.1344+377C>A",
          "hgvs_p": null,
          "transcript": "ENST00000298004.9",
          "protein_id": "ENSP00000298004.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 672,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2019,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000298004.9"
        },
        {
          "aa_ref": "P",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGO",
          "gene_hgnc_id": 23215,
          "hgvs_c": "c.1721C>A",
          "hgvs_p": "p.Pro574His",
          "transcript": "ENST00000907113.1",
          "protein_id": "ENSP00000577172.1",
          "transcript_support_level": null,
          "aa_start": 574,
          "aa_end": null,
          "aa_length": 1089,
          "cds_start": 1721,
          "cds_end": null,
          "cds_length": 3270,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907113.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGO",
          "gene_hgnc_id": 23215,
          "hgvs_c": "c.1721C>A",
          "hgvs_p": "p.Pro574His",
          "transcript": "ENST00000929241.1",
          "protein_id": "ENSP00000599300.1",
          "transcript_support_level": null,
          "aa_start": 574,
          "aa_end": null,
          "aa_length": 1089,
          "cds_start": 1721,
          "cds_end": null,
          "cds_length": 3270,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000929241.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGO",
          "gene_hgnc_id": 23215,
          "hgvs_c": "c.1721C>A",
          "hgvs_p": "p.Pro574His",
          "transcript": "ENST00000907116.1",
          "protein_id": "ENSP00000577175.1",
          "transcript_support_level": null,
          "aa_start": 574,
          "aa_end": null,
          "aa_length": 1088,
          "cds_start": 1721,
          "cds_end": null,
          "cds_length": 3267,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907116.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGO",
          "gene_hgnc_id": 23215,
          "hgvs_c": "c.1721C>A",
          "hgvs_p": "p.Pro574His",
          "transcript": "ENST00000929243.1",
          "protein_id": "ENSP00000599302.1",
          "transcript_support_level": null,
          "aa_start": 574,
          "aa_end": null,
          "aa_length": 1088,
          "cds_start": 1721,
          "cds_end": null,
          "cds_length": 3267,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000929243.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGO",
          "gene_hgnc_id": 23215,
          "hgvs_c": "c.1721C>A",
          "hgvs_p": "p.Pro574His",
          "transcript": "ENST00000929246.1",
          "protein_id": "ENSP00000599305.1",
          "transcript_support_level": null,
          "aa_start": 574,
          "aa_end": null,
          "aa_length": 1088,
          "cds_start": 1721,
          "cds_end": null,
          "cds_length": 3267,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000929246.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGO",
          "gene_hgnc_id": 23215,
          "hgvs_c": "c.1721C>A",
          "hgvs_p": "p.Pro574His",
          "transcript": "XM_005251619.4",
          "protein_id": "XP_005251676.1",
          "transcript_support_level": null,
          "aa_start": 574,
          "aa_end": null,
          "aa_length": 1089,
          "cds_start": 1721,
          "cds_end": null,
          "cds_length": 3270,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005251619.4"
        },
        {
          "aa_ref": "P",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGO",
          "gene_hgnc_id": 23215,
          "hgvs_c": "c.1721C>A",
          "hgvs_p": "p.Pro574His",
          "transcript": "XM_047423974.1",
          "protein_id": "XP_047279930.1",
          "transcript_support_level": null,
          "aa_start": 574,
          "aa_end": null,
          "aa_length": 965,
          "cds_start": 1721,
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          "cds_length": 2898,
          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 12,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "PIGO",
          "gene_hgnc_id": 23215,
          "hgvs_c": "c.1360+361C>A",
          "hgvs_p": null,
          "transcript": "ENST00000700261.1",
          "protein_id": "ENSP00000514897.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 758,
          "cds_start": null,
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          "cds_length": 2277,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          "consequences": [
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          "exon_count": 13,
          "intron_rank": 8,
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          "gene_symbol": "PIGO",
          "gene_hgnc_id": 23215,
          "hgvs_c": "c.1344+377C>A",
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          "transcript": "NM_001201484.2",
          "protein_id": "NP_001188413.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "gene_symbol": "PIGO",
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          "hgvs_c": "c.1344+377C>A",
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          "transcript": "NM_152850.4",
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          "exon_count": 12,
          "intron_rank": 7,
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          "gene_symbol": "PIGO",
          "gene_hgnc_id": 23215,
          "hgvs_c": "c.1344+377C>A",
          "hgvs_p": null,
          "transcript": "ENST00000361778.7",
          "protein_id": "ENSP00000354678.2",
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        {
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          "intron_rank": 7,
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          "gene_symbol": "PIGO",
          "gene_hgnc_id": 23215,
          "hgvs_c": "c.1360+361C>A",
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          "transcript": "ENST00000949398.1",
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          "gene_symbol": "PIGO",
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          "transcript": "ENST00000907117.1",
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        {
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          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PIGO",
          "gene_hgnc_id": 23215,
          "hgvs_c": "c.1164+377C>A",
          "hgvs_p": null,
          "transcript": "ENST00000700260.1",
          "protein_id": "ENSP00000514896.1",
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          "cds_start": null,
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        {
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
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      "custom_annotations": null
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  "message": null
}