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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: 18-722402-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=722402&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "18",
      "pos": 722402,
      "ref": "T",
      "alt": "C",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_005433.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YES1",
          "gene_hgnc_id": 12841,
          "hgvs_c": "c.*2022A>G",
          "hgvs_p": null,
          "transcript": "NM_005433.4",
          "protein_id": "NP_005424.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000314574.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005433.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YES1",
          "gene_hgnc_id": 12841,
          "hgvs_c": "c.*2022A>G",
          "hgvs_p": null,
          "transcript": "ENST00000314574.5",
          "protein_id": "ENSP00000324740.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_005433.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000314574.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YES1",
          "gene_hgnc_id": 12841,
          "hgvs_c": "c.*2022A>G",
          "hgvs_p": null,
          "transcript": "ENST00000584307.5",
          "protein_id": "ENSP00000462468.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000584307.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YES1",
          "gene_hgnc_id": 12841,
          "hgvs_c": "c.*2022A>G",
          "hgvs_p": null,
          "transcript": "ENST00000577961.5",
          "protein_id": "ENSP00000464380.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 548,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1647,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000577961.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YES1",
          "gene_hgnc_id": 12841,
          "hgvs_c": "c.*2022A>G",
          "hgvs_p": null,
          "transcript": "ENST00000925075.1",
          "protein_id": "ENSP00000595134.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 547,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1644,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000925075.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YES1",
          "gene_hgnc_id": 12841,
          "hgvs_c": "c.*2022A>G",
          "hgvs_p": null,
          "transcript": "ENST00000892684.1",
          "protein_id": "ENSP00000562743.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892684.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YES1",
          "gene_hgnc_id": 12841,
          "hgvs_c": "c.*2022A>G",
          "hgvs_p": null,
          "transcript": "ENST00000892685.1",
          "protein_id": "ENSP00000562744.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892685.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YES1",
          "gene_hgnc_id": 12841,
          "hgvs_c": "c.*2022A>G",
          "hgvs_p": null,
          "transcript": "ENST00000892687.1",
          "protein_id": "ENSP00000562746.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892687.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YES1",
          "gene_hgnc_id": 12841,
          "hgvs_c": "c.*2022A>G",
          "hgvs_p": null,
          "transcript": "ENST00000925078.1",
          "protein_id": "ENSP00000595137.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000925078.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YES1",
          "gene_hgnc_id": 12841,
          "hgvs_c": "c.*2022A>G",
          "hgvs_p": null,
          "transcript": "ENST00000945836.1",
          "protein_id": "ENSP00000615895.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": null,
          "cdna_end": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000945836.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
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          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YES1",
          "gene_hgnc_id": 12841,
          "hgvs_c": "c.*2022A>G",
          "hgvs_p": null,
          "transcript": "ENST00000945837.1",
          "protein_id": "ENSP00000615896.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000945837.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YES1",
          "gene_hgnc_id": 12841,
          "hgvs_c": "c.*2022A>G",
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          "transcript": "ENST00000945839.1",
          "protein_id": "ENSP00000615898.1",
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          "cds_start": null,
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          "cdna_start": null,
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        },
        {
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          "consequences": [
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          "intron_rank": null,
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          "gene_symbol": "YES1",
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          "hgvs_c": "c.*2022A>G",
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          "transcript_support_level": null,
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          "cds_start": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YES1",
          "gene_hgnc_id": 12841,
          "hgvs_c": "c.*2022A>G",
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          "transcript": "ENST00000925074.1",
          "protein_id": "ENSP00000595133.1",
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          "cds_start": null,
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        },
        {
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          "exon_count": 11,
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          "gene_symbol": "YES1",
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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": false,
          "consequences": [
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          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YES1",
          "gene_hgnc_id": 12841,
          "hgvs_c": "c.*2022A>G",
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          "transcript": "ENST00000892686.1",
          "protein_id": "ENSP00000562745.1",
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        {
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          ],
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          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "YES1",
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          "hgvs_c": "c.*2022A>G",
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          "protein_id": "ENSP00000595131.1",
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          "exon_count": 11,
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          "gene_symbol": "YES1",
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        },
        {
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          ],
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          "gene_symbol": "YES1",
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        {
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          ],
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          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YES1",
          "gene_hgnc_id": 12841,
          "hgvs_c": "c.*2022A>G",
          "hgvs_p": null,
          "transcript": "ENST00000945838.1",
          "protein_id": "ENSP00000615897.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 392,
          "cds_start": null,
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          "cds_length": 1179,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
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      "clinvar_disease": "",
      "clinvar_classification": "",
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}