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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: X-47456440-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47456440&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 47456440,
      "ref": "T",
      "alt": "C",
      "effect": "splice_acceptor_variant,intron_variant",
      "transcript": "NM_001324155.1",
      "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": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF41",
          "gene_hgnc_id": 13107,
          "hgvs_c": "c.73-42A>G",
          "hgvs_p": null,
          "transcript": "NM_001324144.2",
          "protein_id": "NP_001311073.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 779,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2340,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4999,
          "mane_select": "ENST00000684689.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001324144.2"
        },
        {
          "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": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF41",
          "gene_hgnc_id": 13107,
          "hgvs_c": "c.73-42A>G",
          "hgvs_p": null,
          "transcript": "ENST00000684689.1",
          "protein_id": "ENSP00000508254.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 779,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2340,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4999,
          "mane_select": "NM_001324144.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000684689.1"
        },
        {
          "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": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF41",
          "gene_hgnc_id": 13107,
          "hgvs_c": "c.73-42A>G",
          "hgvs_p": null,
          "transcript": "ENST00000313116.11",
          "protein_id": "ENSP00000315173.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 779,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2340,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4297,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000313116.11"
        },
        {
          "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": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF41",
          "gene_hgnc_id": 13107,
          "hgvs_c": "c.73-42A>G",
          "hgvs_p": null,
          "transcript": "ENST00000377065.8",
          "protein_id": "ENSP00000366265.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 779,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2340,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4531,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000377065.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF41",
          "gene_hgnc_id": 13107,
          "hgvs_c": "c.63-2A>G",
          "hgvs_p": null,
          "transcript": "ENST00000432977.1",
          "protein_id": "ENSP00000390385.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 177,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 536,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 613,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000432977.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF41",
          "gene_hgnc_id": 13107,
          "hgvs_c": "n.226-42A>G",
          "hgvs_p": null,
          "transcript": "ENST00000465311.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 659,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000465311.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF41",
          "gene_hgnc_id": 13107,
          "hgvs_c": "c.159-2A>G",
          "hgvs_p": null,
          "transcript": "NM_001324155.1",
          "protein_id": "NP_001311084.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 821,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2466,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4907,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001324155.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF41",
          "gene_hgnc_id": 13107,
          "hgvs_c": "c.159-2A>G",
          "hgvs_p": null,
          "transcript": "ENST00000915706.1",
          "protein_id": "ENSP00000585765.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 821,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2466,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3940,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915706.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF41",
          "gene_hgnc_id": 13107,
          "hgvs_c": "c.159-2A>G",
          "hgvs_p": null,
          "transcript": "ENST00000968634.1",
          "protein_id": "ENSP00000638693.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 821,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2466,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5401,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000968634.1"
        },
        {
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF41",
          "gene_hgnc_id": 13107,
          "hgvs_c": "c.159-26A>G",
          "hgvs_p": null,
          "transcript": "NM_001324154.1",
          "protein_id": "NP_001311083.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 813,
          "cds_start": null,
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          "cds_length": 2442,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          "consequences": [
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          "exon_count": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ZNF41",
          "gene_hgnc_id": 13107,
          "hgvs_c": "c.159-26A>G",
          "hgvs_p": null,
          "transcript": "ENST00000915708.1",
          "protein_id": "ENSP00000585767.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 813,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": 3652,
          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "intron_rank": 2,
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          "gene_symbol": "ZNF41",
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          "protein_id": "ENSP00000638691.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "mane_select": null,
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        {
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          "gene_symbol": "ZNF41",
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          "hgvs_p": null,
          "transcript": "ENST00000968640.1",
          "protein_id": "ENSP00000638699.1",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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            "intron_variant"
          ],
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          "intron_rank": 2,
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          "gene_symbol": "ZNF41",
          "gene_hgnc_id": 13107,
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          "hgvs_p": null,
          "transcript": "NM_001324151.2",
          "protein_id": "NP_001311080.1",
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        {
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          ],
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          "hgvs_c": "c.63-2A>G",
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          "transcript": "NM_001324153.2",
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          "mane_select": null,
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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": null,
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          "exon_count": 5,
          "intron_rank": 2,
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          "gene_symbol": "ZNF41",
          "gene_hgnc_id": 13107,
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          "hgvs_p": null,
          "transcript": "NM_001324142.2",
          "protein_id": "NP_001311071.1",
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        },
        {
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          "strand": false,
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          "intron_rank": 2,
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          "gene_symbol": "ZNF41",
          "gene_hgnc_id": 13107,
          "hgvs_c": "c.63-26A>G",
          "hgvs_p": null,
          "transcript": "NM_001324148.2",
          "protein_id": "NP_001311077.1",
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        {
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          "gene_symbol": "ZNF41",
          "gene_hgnc_id": 13107,
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        {
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          "gene_symbol": "ZNF41",
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ZNF41",
          "gene_hgnc_id": 13107,
          "hgvs_c": "c.73-42A>G",
          "hgvs_p": null,
          "transcript": "NM_001324150.2",
          "protein_id": "NP_001311079.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 779,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001324150.2"
        },
        {
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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.