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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: 6-167024500-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=167024500&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 167024500,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_007045.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "CEP43",
          "gene_hgnc_id": 17012,
          "hgvs_c": "c.807-282C>T",
          "hgvs_p": null,
          "transcript": "NM_007045.4",
          "protein_id": "NP_008976.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 399,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1200,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000366847.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_007045.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "CEP43",
          "gene_hgnc_id": 17012,
          "hgvs_c": "c.807-282C>T",
          "hgvs_p": null,
          "transcript": "ENST00000366847.9",
          "protein_id": "ENSP00000355812.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 399,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1200,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_007045.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000366847.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000272980",
          "gene_hgnc_id": null,
          "hgvs_c": "c.747-282C>T",
          "hgvs_p": null,
          "transcript": "ENST00000705249.1",
          "protein_id": "ENSP00000516101.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000705249.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "CEP43",
          "gene_hgnc_id": 17012,
          "hgvs_c": "c.747-282C>T",
          "hgvs_p": null,
          "transcript": "ENST00000349556.5",
          "protein_id": "ENSP00000230248.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 379,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1140,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000349556.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CEP43",
          "gene_hgnc_id": 17012,
          "hgvs_c": "c.993-282C>T",
          "hgvs_p": null,
          "transcript": "ENST00000705176.1",
          "protein_id": "ENSP00000516078.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000705176.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "CEP43",
          "gene_hgnc_id": 17012,
          "hgvs_c": "c.933-282C>T",
          "hgvs_p": null,
          "transcript": "ENST00000705175.1",
          "protein_id": "ENSP00000516077.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000705175.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "CEP43",
          "gene_hgnc_id": 17012,
          "hgvs_c": "c.807-282C>T",
          "hgvs_p": null,
          "transcript": "ENST00000936350.1",
          "protein_id": "ENSP00000606409.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 410,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1233,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936350.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "CEP43",
          "gene_hgnc_id": 17012,
          "hgvs_c": "c.807-285C>T",
          "hgvs_p": null,
          "transcript": "ENST00000878124.1",
          "protein_id": "ENSP00000548183.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 398,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1197,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878124.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "CEP43",
          "gene_hgnc_id": 17012,
          "hgvs_c": "c.792-285C>T",
          "hgvs_p": null,
          "transcript": "ENST00000878128.1",
          "protein_id": "ENSP00000548187.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 393,
          "cds_start": null,
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          "cds_length": 1182,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878128.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "CEP43",
          "gene_hgnc_id": 17012,
          "hgvs_c": "c.747-282C>T",
          "hgvs_p": null,
          "transcript": "ENST00000878122.1",
          "protein_id": "ENSP00000548181.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 390,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1173,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": 7,
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          "gene_symbol": "CEP43",
          "gene_hgnc_id": 17012,
          "hgvs_c": "c.747-282C>T",
          "hgvs_p": null,
          "transcript": "ENST00000878125.1",
          "protein_id": "ENSP00000548184.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 389,
          "cds_start": null,
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          "cds_length": 1170,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "intron_rank": 7,
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          "gene_symbol": "CEP43",
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          "hgvs_c": "c.744-282C>T",
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          "protein_id": "ENSP00000606408.1",
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          "cds_start": null,
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        {
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          "gene_symbol": "CEP43",
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          "hgvs_c": "c.747-282C>T",
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          "transcript": "NM_194429.3",
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          "cds_start": null,
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        {
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          "intron_rank": 8,
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          "gene_symbol": "ENSG00000272980",
          "gene_hgnc_id": null,
          "hgvs_c": "c.807-285C>T",
          "hgvs_p": null,
          "transcript": "ENST00000705256.1",
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          "cds_start": null,
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        {
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        {
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          "intron_rank": 7,
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          "gene_symbol": "CEP43",
          "gene_hgnc_id": 17012,
          "hgvs_c": "c.744-282C>T",
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          "transcript": "ENST00000705242.1",
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          "gene_symbol": "CEP43",
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          "transcript": "ENST00000936351.1",
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          "gene_symbol": "CEP43",
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        {
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        {
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          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "CEP43",
          "gene_hgnc_id": 17012,
          "hgvs_c": "c.744-282C>T",
          "hgvs_p": null,
          "transcript": "ENST00000936352.1",
          "protein_id": "ENSP00000606411.1",
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          "aa_length": 366,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          ],
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          "exon_count": 11,
          "intron_rank": 6,
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