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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: 11-8583046-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=8583046&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 8583046,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_030906.4",
      "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STK33",
          "gene_hgnc_id": 14568,
          "hgvs_c": "c.-466+11037A>G",
          "hgvs_p": null,
          "transcript": "NM_001352389.2",
          "protein_id": "NP_001339318.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000687296.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001352389.2"
        },
        {
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STK33",
          "gene_hgnc_id": 14568,
          "hgvs_c": "c.-466+11037A>G",
          "hgvs_p": null,
          "transcript": "ENST00000687296.1",
          "protein_id": "ENSP00000509322.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001352389.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000687296.1"
        },
        {
          "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": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STK33",
          "gene_hgnc_id": 14568,
          "hgvs_c": "c.-311+10698A>G",
          "hgvs_p": null,
          "transcript": "ENST00000315204.5",
          "protein_id": "ENSP00000320754.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000315204.5"
        },
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STK33",
          "gene_hgnc_id": 14568,
          "hgvs_c": "n.177+11037A>G",
          "hgvs_p": null,
          "transcript": "ENST00000526517.1",
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000526517.1"
        },
        {
          "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": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STK33",
          "gene_hgnc_id": 14568,
          "hgvs_c": "c.-162+11037A>G",
          "hgvs_p": null,
          "transcript": "ENST00000933822.1",
          "protein_id": "ENSP00000603881.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 544,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000933822.1"
        },
        {
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STK33",
          "gene_hgnc_id": 14568,
          "hgvs_c": "c.-261+11037A>G",
          "hgvs_p": null,
          "transcript": "ENST00000933824.1",
          "protein_id": "ENSP00000603883.1",
          "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": "ENST00000933824.1"
        },
        {
          "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": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STK33",
          "gene_hgnc_id": 14568,
          "hgvs_c": "c.-162+10698A>G",
          "hgvs_p": null,
          "transcript": "ENST00000967127.1",
          "protein_id": "ENSP00000637186.1",
          "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": "ENST00000967127.1"
        },
        {
          "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": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STK33",
          "gene_hgnc_id": 14568,
          "hgvs_c": "c.-162+11037A>G",
          "hgvs_p": null,
          "transcript": "ENST00000967113.1",
          "protein_id": "ENSP00000637172.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 520,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1563,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000967113.1"
        },
        {
          "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": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STK33",
          "gene_hgnc_id": 14568,
          "hgvs_c": "c.-162+10698A>G",
          "hgvs_p": null,
          "transcript": "NM_001289061.2",
          "protein_id": "NP_001275990.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": null,
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          "cds_length": 1545,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001289061.2"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "STK33",
          "gene_hgnc_id": 14568,
          "hgvs_c": "c.-196+11037A>G",
          "hgvs_p": null,
          "transcript": "NM_001352387.2",
          "protein_id": "NP_001339316.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 514,
          "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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          "canonical": false,
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          "consequences": [
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          "gene_symbol": "STK33",
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          "hgvs_c": "c.-401+11037A>G",
          "hgvs_p": null,
          "transcript": "NM_001352388.2",
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          "aa_length": 514,
          "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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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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        {
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        {
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          "gene_symbol": "STK33",
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          "hgvs_c": "c.-261+11037A>G",
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          "transcript": "NM_001352392.2",
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        {
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        {
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          "gene_symbol": "STK33",
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        {
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          "gene_symbol": "STK33",
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          "transcript": "ENST00000396672.5",
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          "gene_symbol": "STK33",
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          "hgvs_c": "c.-294+11037A>G",
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        {
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