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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: 3-49027159-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49027159&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 49027159,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000326739.9",
      "consequences": [
        {
          "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": 14,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
          "hgvs_c": "c.532-112A>G",
          "hgvs_p": null,
          "transcript": "NM_000884.3",
          "protein_id": "NP_000875.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1651,
          "mane_select": "ENST00000326739.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
          "hgvs_c": "c.532-112A>G",
          "hgvs_p": null,
          "transcript": "ENST00000326739.9",
          "protein_id": "ENSP00000321584.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1651,
          "mane_select": "NM_000884.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000290315",
          "gene_hgnc_id": null,
          "hgvs_c": "c.2572-112A>G",
          "hgvs_p": null,
          "transcript": "ENST00000703936.1",
          "protein_id": "ENSP00000515567.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1194,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3585,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3804,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
          "hgvs_c": "n.1496A>G",
          "hgvs_p": null,
          "transcript": "ENST00000676864.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2817,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
          "hgvs_c": "n.2253A>G",
          "hgvs_p": null,
          "transcript": "ENST00000677108.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3659,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
          "hgvs_c": "n.1852A>G",
          "hgvs_p": null,
          "transcript": "ENST00000677740.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4351,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
          "hgvs_c": "n.2196A>G",
          "hgvs_p": null,
          "transcript": "ENST00000678177.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4906,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 15,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
          "hgvs_c": "c.532-112A>G",
          "hgvs_p": null,
          "transcript": "NM_001410759.1",
          "protein_id": "NP_001397688.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 538,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1617,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1723,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 15,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
          "hgvs_c": "c.532-112A>G",
          "hgvs_p": null,
          "transcript": "ENST00000429182.6",
          "protein_id": "ENSP00000393525.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 538,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1617,
          "cdna_start": null,
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          "cdna_length": 1751,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 14,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
          "hgvs_c": "c.568-112A>G",
          "hgvs_p": null,
          "transcript": "ENST00000677010.1",
          "protein_id": "ENSP00000503089.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": null,
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          "cdna_length": 1657,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 14,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
          "hgvs_c": "c.457-112A>G",
          "hgvs_p": null,
          "transcript": "NM_001410760.1",
          "protein_id": "NP_001397689.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 513,
          "cds_start": -4,
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          "cds_length": 1542,
          "cdna_start": null,
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          "cdna_length": 1648,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 14,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
          "hgvs_c": "c.457-112A>G",
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          "transcript": "ENST00000678724.1",
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          "cds_start": -4,
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        {
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          "canonical": false,
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          "consequences": [
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          ],
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          "intron_rank": 4,
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          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
          "hgvs_c": "c.457-112A>G",
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          "transcript": "NM_001410761.1",
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          "cds_start": -4,
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        {
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          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
          "hgvs_c": "c.457-112A>G",
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          "transcript": "ENST00000442157.2",
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          "cds_start": -4,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 3,
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          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
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        {
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          "intron_rank": 5,
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          "gene_symbol": "IMPDH2",
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          "hgvs_c": "n.598-112A>G",
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          "transcript": "ENST00000472328.2",
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 1,
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          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
          "hgvs_c": "n.419-112A>G",
          "hgvs_p": null,
          "transcript": "ENST00000491610.2",
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        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 13,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
          "hgvs_c": "n.828-112A>G",
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          "intron_rank": 2,
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          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
          "hgvs_c": "n.1262-112A>G",
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          "transcript": "ENST00000676627.1",
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          ],
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          "exon_count": 9,
          "intron_rank": 1,
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          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
          "hgvs_c": "n.1739-112A>G",
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          "transcript": "ENST00000676708.1",
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          "cdna_length": 2865,
          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "IMPDH2",
          "gene_hgnc_id": 6053,
          "hgvs_c": "n.1004-112A>G",
          "hgvs_p": null,
          "transcript": "ENST00000677168.1",
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}