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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: 1-6955045-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6955045&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 6955045,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000303635.12",
      "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": 23,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CAMTA1",
          "gene_hgnc_id": 18806,
          "hgvs_c": "c.234+129835T>C",
          "hgvs_p": null,
          "transcript": "NM_015215.4",
          "protein_id": "NP_056030.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1673,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5022,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8314,
          "mane_select": "ENST00000303635.12",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 23,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CAMTA1",
          "gene_hgnc_id": 18806,
          "hgvs_c": "c.234+129835T>C",
          "hgvs_p": null,
          "transcript": "ENST00000303635.12",
          "protein_id": "ENSP00000306522.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1673,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5022,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8314,
          "mane_select": "NM_015215.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CAMTA1",
          "gene_hgnc_id": 18806,
          "hgvs_c": "c.234+129835T>C",
          "hgvs_p": null,
          "transcript": "ENST00000476864.2",
          "protein_id": "ENSP00000452319.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1560,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4683,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6282,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 22,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CAMTA1",
          "gene_hgnc_id": 18806,
          "hgvs_c": "c.144+129835T>C",
          "hgvs_p": null,
          "transcript": "NM_001349608.2",
          "protein_id": "NP_001336537.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1643,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4932,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8244,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 23,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CAMTA1",
          "gene_hgnc_id": 18806,
          "hgvs_c": "c.234+129835T>C",
          "hgvs_p": null,
          "transcript": "NM_001349609.2",
          "protein_id": "NP_001336538.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1567,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4704,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7965,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 24,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CAMTA1",
          "gene_hgnc_id": 18806,
          "hgvs_c": "c.234+129835T>C",
          "hgvs_p": null,
          "transcript": "NM_001349610.2",
          "protein_id": "NP_001336539.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1565,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4698,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7990,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CAMTA1",
          "gene_hgnc_id": 18806,
          "hgvs_c": "c.234+129835T>C",
          "hgvs_p": null,
          "transcript": "NM_001410737.1",
          "protein_id": "NP_001397666.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1560,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4683,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7944,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 23,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CAMTA1",
          "gene_hgnc_id": 18806,
          "hgvs_c": "c.144+129835T>C",
          "hgvs_p": null,
          "transcript": "NM_001349612.2",
          "protein_id": "NP_001336541.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1537,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4614,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7926,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 23,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CAMTA1",
          "gene_hgnc_id": 18806,
          "hgvs_c": "c.144+129835T>C",
          "hgvs_p": null,
          "transcript": "ENST00000700415.1",
          "protein_id": "ENSP00000514979.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1537,
          "cds_start": -4,
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          "cds_length": 4614,
          "cdna_start": null,
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          "cdna_length": 5986,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CAMTA1",
          "gene_hgnc_id": 18806,
          "hgvs_c": "c.234+129835T>C",
          "hgvs_p": null,
          "transcript": "NM_001410738.1",
          "protein_id": "NP_001397667.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1536,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 7872,
          "mane_select": null,
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        },
        {
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          "canonical": false,
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          ],
          "exon_rank": null,
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          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CAMTA1",
          "gene_hgnc_id": 18806,
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          "hgvs_p": null,
          "transcript": "ENST00000700417.1",
          "protein_id": "ENSP00000514981.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 5929,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          "exon_rank": null,
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          "exon_count": 25,
          "intron_rank": 5,
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          "gene_symbol": "CAMTA1",
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          "hgvs_c": "n.*85+47447T>C",
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          "transcript": "ENST00000700414.1",
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          "gene_symbol": "CAMTA1",
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          "gene_symbol": "CAMTA1",
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          "transcript": "XM_011541083.3",
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        {
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        {
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          "exon_count": 22,
          "intron_rank": 2,
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          "gene_symbol": "CAMTA1",
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          "hgvs_c": "c.144+129835T>C",
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}