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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: 1-232441535-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=232441535&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 232441535,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_020808.5",
      "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": 23,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "SIPA1L2",
          "gene_hgnc_id": 23800,
          "hgvs_c": "c.3539-141A>G",
          "hgvs_p": null,
          "transcript": "NM_020808.5",
          "protein_id": "NP_065859.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1722,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5169,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000674635.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_020808.5"
        },
        {
          "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": 23,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "SIPA1L2",
          "gene_hgnc_id": 23800,
          "hgvs_c": "c.3539-141A>G",
          "hgvs_p": null,
          "transcript": "ENST00000674635.1",
          "protein_id": "ENSP00000502693.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1722,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5169,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_020808.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674635.1"
        },
        {
          "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": 23,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "SIPA1L2",
          "gene_hgnc_id": 23800,
          "hgvs_c": "c.3539-141A>G",
          "hgvs_p": null,
          "transcript": "ENST00000676213.1",
          "protein_id": "ENSP00000501897.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1773,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5322,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000676213.1"
        },
        {
          "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": 24,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "SIPA1L2",
          "gene_hgnc_id": 23800,
          "hgvs_c": "c.3539-141A>G",
          "hgvs_p": null,
          "transcript": "ENST00000964479.1",
          "protein_id": "ENSP00000634538.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1773,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5322,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000964479.1"
        },
        {
          "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": 22,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "SIPA1L2",
          "gene_hgnc_id": 23800,
          "hgvs_c": "c.3539-141A>G",
          "hgvs_p": null,
          "transcript": "ENST00000366630.5",
          "protein_id": "ENSP00000355589.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1722,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5169,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000366630.5"
        },
        {
          "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": 23,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "SIPA1L2",
          "gene_hgnc_id": 23800,
          "hgvs_c": "c.3539-141A>G",
          "hgvs_p": null,
          "transcript": "ENST00000883509.1",
          "protein_id": "ENSP00000553568.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1722,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5169,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883509.1"
        },
        {
          "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": 22,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "SIPA1L2",
          "gene_hgnc_id": 23800,
          "hgvs_c": "c.3539-141A>G",
          "hgvs_p": null,
          "transcript": "ENST00000930083.1",
          "protein_id": "ENSP00000600142.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1722,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5169,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000930083.1"
        },
        {
          "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": 24,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "SIPA1L2",
          "gene_hgnc_id": 23800,
          "hgvs_c": "c.3539-141A>G",
          "hgvs_p": null,
          "transcript": "ENST00000964476.1",
          "protein_id": "ENSP00000634535.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1722,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5169,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000964476.1"
        },
        {
          "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": 23,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "SIPA1L2",
          "gene_hgnc_id": 23800,
          "hgvs_c": "c.3539-141A>G",
          "hgvs_p": null,
          "transcript": "ENST00000964481.1",
          "protein_id": "ENSP00000634540.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1722,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5169,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000964481.1"
        },
        {
          "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": 23,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "SIPA1L2",
          "gene_hgnc_id": 23800,
          "hgvs_c": "c.3539-141A>G",
          "hgvs_p": null,
          "transcript": "ENST00000964483.1",
          "protein_id": "ENSP00000634542.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1722,
          "cds_start": null,
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          "cds_length": 5169,
          "cdna_start": null,
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          "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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          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "SIPA1L2",
          "gene_hgnc_id": 23800,
          "hgvs_c": "c.3539-141A>G",
          "hgvs_p": null,
          "transcript": "ENST00000964495.1",
          "protein_id": "ENSP00000634554.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1722,
          "cds_start": null,
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          "cds_length": 5169,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000964495.1"
        },
        {
          "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": 22,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "SIPA1L2",
          "gene_hgnc_id": 23800,
          "hgvs_c": "c.3539-141A>G",
          "hgvs_p": null,
          "transcript": "NM_001377488.1",
          "protein_id": "NP_001364417.1",
          "transcript_support_level": null,
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          "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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        },
        {
          "aa_ref": null,
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          ],
          "exon_rank": null,
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          "exon_count": 24,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "SIPA1L2",
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          "hgvs_c": "c.3539-141A>G",
          "hgvs_p": null,
          "transcript": "ENST00000674749.1",
          "protein_id": "ENSP00000502328.1",
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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,
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 23,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "SIPA1L2",
          "gene_hgnc_id": 23800,
          "hgvs_c": "c.3539-141A>G",
          "hgvs_p": null,
          "transcript": "ENST00000675407.1",
          "protein_id": "ENSP00000502580.1",
          "transcript_support_level": null,
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        {
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 22,
          "intron_rank": 13,
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          "gene_symbol": "SIPA1L2",
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          "hgvs_c": "c.3539-141A>G",
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          "transcript": "ENST00000883504.1",
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        {
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          "gene_symbol": "SIPA1L2",
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          "hgvs_c": "c.3539-141A>G",
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          "transcript": "ENST00000883505.1",
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        {
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          ],
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          "exon_count": 22,
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          "intron_rank_end": null,
          "gene_symbol": "SIPA1L2",
          "gene_hgnc_id": 23800,
          "hgvs_c": "c.3539-141A>G",
          "hgvs_p": null,
          "transcript": "ENST00000883508.1",
          "protein_id": "ENSP00000553567.1",
          "transcript_support_level": null,
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}