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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: 3-141292788-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=141292788&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 141292788,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000286353.9",
      "consequences": [
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PXYLP1",
          "gene_hgnc_id": 26303,
          "hgvs_c": "c.1026C>G",
          "hgvs_p": "p.Phe342Leu",
          "transcript": "NM_001037172.3",
          "protein_id": "NP_001032249.1",
          "transcript_support_level": null,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 480,
          "cds_start": 1026,
          "cds_end": null,
          "cds_length": 1443,
          "cdna_start": 1166,
          "cdna_end": null,
          "cdna_length": 3302,
          "mane_select": "ENST00000286353.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PXYLP1",
          "gene_hgnc_id": 26303,
          "hgvs_c": "c.1026C>G",
          "hgvs_p": "p.Phe342Leu",
          "transcript": "ENST00000286353.9",
          "protein_id": "ENSP00000286353.4",
          "transcript_support_level": 1,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 480,
          "cds_start": 1026,
          "cds_end": null,
          "cds_length": 1443,
          "cdna_start": 1166,
          "cdna_end": null,
          "cdna_length": 3302,
          "mane_select": "NM_001037172.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PXYLP1",
          "gene_hgnc_id": 26303,
          "hgvs_c": "c.1026C>G",
          "hgvs_p": "p.Phe342Leu",
          "transcript": "ENST00000393010.6",
          "protein_id": "ENSP00000376733.2",
          "transcript_support_level": 1,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 480,
          "cds_start": 1026,
          "cds_end": null,
          "cds_length": 1443,
          "cdna_start": 1304,
          "cdna_end": null,
          "cdna_length": 3160,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PXYLP1",
          "gene_hgnc_id": 26303,
          "hgvs_c": "c.999C>G",
          "hgvs_p": "p.Phe333Leu",
          "transcript": "ENST00000508812.1",
          "protein_id": "ENSP00000422901.1",
          "transcript_support_level": 1,
          "aa_start": 333,
          "aa_end": null,
          "aa_length": 471,
          "cds_start": 999,
          "cds_end": null,
          "cds_length": 1416,
          "cdna_start": 2906,
          "cdna_end": null,
          "cdna_length": 4158,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PXYLP1",
          "gene_hgnc_id": 26303,
          "hgvs_c": "c.1026C>G",
          "hgvs_p": "p.Phe342Leu",
          "transcript": "NM_152282.5",
          "protein_id": "NP_689495.1",
          "transcript_support_level": null,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 480,
          "cds_start": 1026,
          "cds_end": null,
          "cds_length": 1443,
          "cdna_start": 1340,
          "cdna_end": null,
          "cdna_length": 3476,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PXYLP1",
          "gene_hgnc_id": 26303,
          "hgvs_c": "c.975C>G",
          "hgvs_p": "p.Phe325Leu",
          "transcript": "ENST00000504264.5",
          "protein_id": "ENSP00000426877.1",
          "transcript_support_level": 2,
          "aa_start": 325,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 975,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": 1057,
          "cdna_end": null,
          "cdna_length": 1773,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PXYLP1",
          "gene_hgnc_id": 26303,
          "hgvs_c": "c.912C>G",
          "hgvs_p": "p.Phe304Leu",
          "transcript": "NM_001282728.2",
          "protein_id": "NP_001269657.1",
          "transcript_support_level": null,
          "aa_start": 304,
          "aa_end": null,
          "aa_length": 442,
          "cds_start": 912,
          "cds_end": null,
          "cds_length": 1329,
          "cdna_start": 1264,
          "cdna_end": null,
          "cdna_length": 3400,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PXYLP1",
          "gene_hgnc_id": 26303,
          "hgvs_c": "c.912C>G",
          "hgvs_p": "p.Phe304Leu",
          "transcript": "ENST00000502783.5",
          "protein_id": "ENSP00000422558.1",
          "transcript_support_level": 2,
          "aa_start": 304,
          "aa_end": null,
          "aa_length": 442,
          "cds_start": 912,
          "cds_end": null,
          "cds_length": 1329,
          "cdna_start": 1249,
          "cdna_end": null,
          "cdna_length": 2066,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PXYLP1",
          "gene_hgnc_id": 26303,
          "hgvs_c": "c.1026C>G",
          "hgvs_p": "p.Phe342Leu",
          "transcript": "XM_047449209.1",
          "protein_id": "XP_047305165.1",
          "transcript_support_level": null,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 480,
          "cds_start": 1026,
          "cds_end": null,
          "cds_length": 1443,
          "cdna_start": 1864,
          "cdna_end": null,
          "cdna_length": 4000,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PXYLP1",
          "gene_hgnc_id": 26303,
          "hgvs_c": "c.1026C>G",
          "hgvs_p": "p.Phe342Leu",
          "transcript": "XM_047449210.1",
          "protein_id": "XP_047305166.1",
          "transcript_support_level": null,
          "aa_start": 342,
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          "aa_length": 480,
          "cds_start": 1026,
          "cds_end": null,
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          "cdna_start": 1492,
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          "cdna_length": 3628,
          "mane_select": null,
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        },
        {
          "aa_ref": "F",
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 8,
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          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "PXYLP1",
          "gene_hgnc_id": 26303,
          "hgvs_c": "c.1026C>G",
          "hgvs_p": "p.Phe342Leu",
          "transcript": "XM_047449211.1",
          "protein_id": "XP_047305167.1",
          "transcript_support_level": null,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 480,
          "cds_start": 1026,
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          "cds_length": 1443,
          "cdna_start": 1344,
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          "mane_select": null,
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        {
          "aa_ref": "F",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "PXYLP1",
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          "hgvs_c": "c.1026C>G",
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          "transcript": "XM_047449212.1",
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          "cds_start": 1026,
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        {
          "aa_ref": "F",
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          ],
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          "gene_symbol": "PXYLP1",
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          "hgvs_c": "c.1026C>G",
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        {
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          "strand": true,
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          "intron_rank": null,
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          "gene_symbol": "PXYLP1",
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          "hgvs_c": "c.1026C>G",
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          "transcript": "XM_047449214.1",
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        {
          "aa_ref": "F",
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        {
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          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "PXYLP1",
          "gene_hgnc_id": 26303,
          "hgvs_c": "c.1026C>G",
          "hgvs_p": "p.Phe342Leu",
          "transcript": "XM_047449216.1",
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        {
          "aa_ref": "F",
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          "gene_symbol": "PXYLP1",
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          "transcript": "XM_047449217.1",
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        {
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        {
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          "gene_symbol": "PXYLP1",
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        },
        {
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          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "PXYLP1",
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          "hgvs_c": "c.1026C>G",
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          "transcript": "XM_047449220.1",
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        {
          "aa_ref": "F",
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          "protein_coding": true,
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          ],
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