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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: 10-110118752-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=110118752&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 110118752,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000356080.9",
      "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": 15,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ADD3",
          "gene_hgnc_id": 245,
          "hgvs_c": "c.717+16T>C",
          "hgvs_p": null,
          "transcript": "NM_016824.5",
          "protein_id": "NP_058432.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 706,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2121,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4413,
          "mane_select": "ENST00000356080.9",
          "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": 15,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ADD3",
          "gene_hgnc_id": 245,
          "hgvs_c": "c.717+16T>C",
          "hgvs_p": null,
          "transcript": "ENST00000356080.9",
          "protein_id": "ENSP00000348381.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 706,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2121,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4413,
          "mane_select": "NM_016824.5",
          "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": 14,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ADD3",
          "gene_hgnc_id": 245,
          "hgvs_c": "c.717+16T>C",
          "hgvs_p": null,
          "transcript": "ENST00000277900.12",
          "protein_id": "ENSP00000277900.8",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 674,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2025,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4337,
          "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": 14,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ADD3",
          "gene_hgnc_id": 245,
          "hgvs_c": "c.717+16T>C",
          "hgvs_p": null,
          "transcript": "ENST00000360162.7",
          "protein_id": "ENSP00000353286.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 674,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2025,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3114,
          "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": 16,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ADD3",
          "gene_hgnc_id": 245,
          "hgvs_c": "c.717+16T>C",
          "hgvs_p": null,
          "transcript": "NM_001320591.2",
          "protein_id": "NP_001307520.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 706,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2121,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4359,
          "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": 15,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ADD3",
          "gene_hgnc_id": 245,
          "hgvs_c": "c.717+16T>C",
          "hgvs_p": null,
          "transcript": "NM_001320592.2",
          "protein_id": "NP_001307521.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 706,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2121,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4302,
          "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": 15,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ADD3",
          "gene_hgnc_id": 245,
          "hgvs_c": "c.717+16T>C",
          "hgvs_p": null,
          "transcript": "NM_001320593.2",
          "protein_id": "NP_001307522.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 706,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2121,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4298,
          "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": 14,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ADD3",
          "gene_hgnc_id": 245,
          "hgvs_c": "c.717+16T>C",
          "hgvs_p": null,
          "transcript": "NM_001121.4",
          "protein_id": "NP_001112.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 674,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2025,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4317,
          "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": 14,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ADD3",
          "gene_hgnc_id": 245,
          "hgvs_c": "c.717+16T>C",
          "hgvs_p": null,
          "transcript": "NM_019903.5",
          "protein_id": "NP_063968.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 674,
          "cds_start": -4,
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          "cds_length": 2025,
          "cdna_start": null,
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          "cdna_length": 4206,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
          "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": 16,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ADD3",
          "gene_hgnc_id": 245,
          "hgvs_c": "c.483+16T>C",
          "hgvs_p": null,
          "transcript": "NM_001320594.2",
          "protein_id": "NP_001307523.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 628,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1887,
          "cdna_start": null,
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          "mane_select": null,
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          "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": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ADD3",
          "gene_hgnc_id": 245,
          "hgvs_c": "n.111-3461T>C",
          "hgvs_p": null,
          "transcript": "ENST00000486014.1",
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          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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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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          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ADD3",
          "gene_hgnc_id": 245,
          "hgvs_c": "c.717+16T>C",
          "hgvs_p": null,
          "transcript": "XM_024447794.2",
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          "intron_rank": 7,
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          "gene_symbol": "ADD3",
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          "hgvs_c": "c.717+16T>C",
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        {
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          "hgvs_c": "c.717+16T>C",
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          "transcript": "XM_024447796.2",
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        {
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          "hgvs_c": "c.717+16T>C",
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          "gene_symbol": "ADD3",
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          "gene_symbol": "ADD3",
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          "hgvs_c": "c.717+16T>C",
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          "transcript": "XM_047424587.1",
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