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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: 11-321001-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=321001&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 321001,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000602429.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000251661",
          "gene_hgnc_id": 58185,
          "hgvs_c": "n.115+2255A>G",
          "hgvs_p": null,
          "transcript": "ENST00000602429.2",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": 1185,
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IFITM3",
          "gene_hgnc_id": 5414,
          "hgvs_c": "c.-23+223T>C",
          "hgvs_p": null,
          "transcript": "ENST00000526811.4",
          "protein_id": "ENSP00000432108.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 112,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 339,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 543,
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IFITM3",
          "gene_hgnc_id": 5414,
          "hgvs_c": "c.-22-229T>C",
          "hgvs_p": null,
          "transcript": "ENST00000602735.2",
          "protein_id": "ENSP00000473544.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 112,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 339,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 713,
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IFITM3",
          "gene_hgnc_id": 5414,
          "hgvs_c": "c.-22-229T>C",
          "hgvs_p": null,
          "transcript": "ENST00000679433.1",
          "protein_id": "ENSP00000506209.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 61,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 186,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 238,
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IFITM3",
          "gene_hgnc_id": 5414,
          "hgvs_c": "c.-22-229T>C",
          "hgvs_p": null,
          "transcript": "ENST00000679441.1",
          "protein_id": "ENSP00000506018.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 61,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 186,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 238,
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IFITM3",
          "gene_hgnc_id": 5414,
          "hgvs_c": "c.-22-229T>C",
          "hgvs_p": null,
          "transcript": "ENST00000679792.1",
          "protein_id": "ENSP00000505901.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 61,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 186,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 238,
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IFITM3",
          "gene_hgnc_id": 5414,
          "hgvs_c": "c.-23+136T>C",
          "hgvs_p": null,
          "transcript": "ENST00000680023.1",
          "protein_id": "ENSP00000506536.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 61,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 186,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 238,
          "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": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "IFITM3",
          "gene_hgnc_id": 5414,
          "hgvs_c": "c.-22-229T>C",
          "hgvs_p": null,
          "transcript": "ENST00000680622.1",
          "protein_id": "ENSP00000505128.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 61,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 186,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 884,
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IFITM3",
          "gene_hgnc_id": 5414,
          "hgvs_c": "c.-22-229T>C",
          "hgvs_p": null,
          "transcript": "ENST00000680720.1",
          "protein_id": "ENSP00000505213.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 61,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 186,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 238,
          "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": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "IFITM3",
          "gene_hgnc_id": 5414,
          "hgvs_c": "c.-22-229T>C",
          "hgvs_p": null,
          "transcript": "ENST00000681184.1",
          "protein_id": "ENSP00000505002.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 61,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 186,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 277,
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IFITM3",
          "gene_hgnc_id": 5414,
          "hgvs_c": "c.-22-229T>C",
          "hgvs_p": null,
          "transcript": "ENST00000681748.1",
          "protein_id": "ENSP00000505936.1",
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          "aa_start": null,
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          "aa_length": 61,
          "cds_start": -4,
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          "cds_length": 186,
          "cdna_start": null,
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          "cdna_length": 238,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000251661",
          "gene_hgnc_id": 58185,
          "hgvs_c": "n.75+2255A>G",
          "hgvs_p": null,
          "transcript": "ENST00000602756.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
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          "gene_symbol": "ENSG00000251661",
          "gene_hgnc_id": 58185,
          "hgvs_c": "n.165+2255A>G",
          "hgvs_p": null,
          "transcript": "ENST00000717735.1",
          "protein_id": null,
          "transcript_support_level": null,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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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": 3,
          "intron_rank": 1,
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          "gene_symbol": "ENSG00000251661",
          "gene_hgnc_id": 58185,
          "hgvs_c": "n.147+2255A>G",
          "hgvs_p": null,
          "transcript": "ENST00000717736.1",
          "protein_id": null,
          "transcript_support_level": null,
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          "cds_start": -4,
          "cds_end": null,
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          "cdna_start": null,
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          "cdna_length": 488,
          "mane_select": null,
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
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          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000251661",
          "gene_hgnc_id": 58185,
          "hgvs_c": "n.136+2255A>G",
          "hgvs_p": null,
          "transcript": "ENST00000717737.1",
          "protein_id": null,
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        {
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          "strand": true,
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          ],
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          "exon_count": 4,
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          "intron_rank_end": null,
          "gene_symbol": "ENSG00000251661",
          "gene_hgnc_id": 58185,
          "hgvs_c": "n.438+795A>G",
          "hgvs_p": null,
          "transcript": "ENST00000717738.1",
          "protein_id": null,
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          "cdna_start": null,
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          "cdna_length": 779,
          "mane_select": null,
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          "biotype": null,
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000251661",
          "gene_hgnc_id": 58185,
          "hgvs_c": "n.136+2255A>G",
          "hgvs_p": null,
          "transcript": "ENST00000755701.1",
          "protein_id": null,
          "transcript_support_level": null,
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        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000251661",
          "gene_hgnc_id": 58185,
          "hgvs_c": "n.121+2255A>G",
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          "transcript": "ENST00000755702.1",
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          "gene_symbol": "IFITM3-AS1",
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          "transcript": "XR_007062535.1",
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        },
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          "gene_symbol": "IFITM3-AS1",
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          "hgvs_c": "n.287+2255A>G",
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        },
        {
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          "strand": true,
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          ],
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          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IFITM3-AS1",
          "gene_hgnc_id": 58185,
          "hgvs_c": "n.287+2255A>G",
          "hgvs_p": null,
          "transcript": "XR_007062537.1",
          "protein_id": null,
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        {
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}