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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: 6-70561176-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=70561176&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 70561176,
      "ref": "C",
      "alt": "G",
      "effect": "3_prime_UTR_variant",
      "transcript": "ENST00000856122.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM135A",
          "gene_hgnc_id": 21084,
          "hgvs_c": "c.*1255C>G",
          "hgvs_p": null,
          "transcript": "ENST00000856122.1",
          "protein_id": "ENSP00000526181.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1541,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4626,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6935,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856122.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM135A",
          "gene_hgnc_id": 21084,
          "hgvs_c": "c.*1255C>G",
          "hgvs_p": null,
          "transcript": "ENST00000935394.1",
          "protein_id": "ENSP00000605453.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1541,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4626,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6877,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000935394.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM135A",
          "gene_hgnc_id": 21084,
          "hgvs_c": "c.*1255C>G",
          "hgvs_p": null,
          "transcript": "ENST00000935395.1",
          "protein_id": "ENSP00000605454.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1541,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4626,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6326,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000935395.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM135A",
          "gene_hgnc_id": 21084,
          "hgvs_c": "c.*1255C>G",
          "hgvs_p": null,
          "transcript": "ENST00000856123.1",
          "protein_id": "ENSP00000526182.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1345,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4038,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5975,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856123.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM135A",
          "gene_hgnc_id": 21084,
          "hgvs_c": "c.*1255C>G",
          "hgvs_p": null,
          "transcript": "ENST00000856124.1",
          "protein_id": "ENSP00000526183.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1345,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4038,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5889,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856124.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM135A",
          "gene_hgnc_id": 21084,
          "hgvs_c": "c.*1255C>G",
          "hgvs_p": null,
          "transcript": "ENST00000954037.1",
          "protein_id": "ENSP00000624096.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1319,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3960,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5908,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000954037.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM135A",
          "gene_hgnc_id": 21084,
          "hgvs_c": "c.*1255C>G",
          "hgvs_p": null,
          "transcript": "NM_001162529.3",
          "protein_id": "NP_001156001.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1515,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6215,
          "mane_select": "ENST00000418814.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001162529.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM135A",
          "gene_hgnc_id": 21084,
          "hgvs_c": "c.*1255C>G",
          "hgvs_p": null,
          "transcript": "ENST00000418814.7",
          "protein_id": "ENSP00000410768.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1515,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6215,
          "mane_select": "NM_001162529.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000418814.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM135A",
          "gene_hgnc_id": 21084,
          "hgvs_c": "c.*1255C>G",
          "hgvs_p": null,
          "transcript": "ENST00000370479.7",
          "protein_id": "ENSP00000359510.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1515,
          "cds_start": null,
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          "cds_length": 4548,
          "cdna_start": null,
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          "cdna_length": 5930,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000370479.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM135A",
          "gene_hgnc_id": 21084,
          "hgvs_c": "c.*1255C>G",
          "hgvs_p": null,
          "transcript": "ENST00000457062.6",
          "protein_id": "ENSP00000409201.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1302,
          "cds_start": null,
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          "cds_length": 3909,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "consequences": [
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          ],
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          "exon_count": 2,
          "intron_rank": null,
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          "gene_symbol": "FAM135A",
          "gene_hgnc_id": 21084,
          "hgvs_c": "n.*5C>G",
          "hgvs_p": null,
          "transcript": "ENST00000505675.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": 1622,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000505675.1"
        },
        {
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "FAM135A",
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          "protein_id": "NP_001317925.1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "FAM135A",
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          "hgvs_c": "c.*1255C>G",
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          "transcript": "NM_001330999.3",
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        {
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          "intron_rank": null,
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          "gene_symbol": "FAM135A",
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          "hgvs_c": "c.*1255C>G",
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          "transcript": "NM_001351599.2",
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        {
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          "intron_rank": null,
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          "gene_symbol": "FAM135A",
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          "hgvs_c": "c.*1255C>G",
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        {
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          "exon_count": 22,
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          "gene_symbol": "FAM135A",
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}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.