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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: 18-676789-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=676789&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "18",
      "pos": 676789,
      "ref": "A",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000647584.2",
      "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": 14,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
          "hgvs_c": "c.1148+556T>A",
          "hgvs_p": null,
          "transcript": "NM_017512.7",
          "protein_id": "NP_059982.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5362,
          "mane_select": "ENST00000647584.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 14,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
          "hgvs_c": "c.1148+556T>A",
          "hgvs_p": null,
          "transcript": "ENST00000647584.2",
          "protein_id": "ENSP00000497230.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5362,
          "mane_select": "NM_017512.7",
          "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": 16,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
          "hgvs_c": "c.902+556T>A",
          "hgvs_p": null,
          "transcript": "ENST00000383578.7",
          "protein_id": "ENSP00000373072.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4188,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 14,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
          "hgvs_c": "n.*535+556T>A",
          "hgvs_p": null,
          "transcript": "ENST00000581475.5",
          "protein_id": "ENSP00000464614.1",
          "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": 1745,
          "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": 16,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
          "hgvs_c": "c.1292+556T>A",
          "hgvs_p": null,
          "transcript": "NM_001354067.2",
          "protein_id": "NP_001340996.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 491,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1476,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5506,
          "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": 15,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
          "hgvs_c": "c.1250+556T>A",
          "hgvs_p": null,
          "transcript": "NM_202758.5",
          "protein_id": "NP_974487.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 477,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1434,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5464,
          "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": 15,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
          "hgvs_c": "c.1250+556T>A",
          "hgvs_p": null,
          "transcript": "ENST00000340116.12",
          "protein_id": "ENSP00000345974.8",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 477,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1434,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1845,
          "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": 16,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
          "hgvs_c": "c.1163+556T>A",
          "hgvs_p": null,
          "transcript": "NM_001439136.1",
          "protein_id": "NP_001426065.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 448,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1347,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5377,
          "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": 15,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
          "hgvs_c": "c.1106+556T>A",
          "hgvs_p": null,
          "transcript": "NM_001354066.2",
          "protein_id": "NP_001340995.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 429,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1290,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5320,
          "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": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
          "hgvs_c": "c.1061+556T>A",
          "hgvs_p": null,
          "transcript": "NM_001354068.2",
          "protein_id": "NP_001340997.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 414,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1245,
          "cdna_start": null,
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          "cdna_length": 5275,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
          "hgvs_c": "c.920+556T>A",
          "hgvs_p": null,
          "transcript": "NM_001439137.1",
          "protein_id": "NP_001426066.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 367,
          "cds_start": -4,
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          "cds_length": 1104,
          "cdna_start": null,
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          "cdna_length": 5134,
          "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": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
          "hgvs_c": "c.920+556T>A",
          "hgvs_p": null,
          "transcript": "ENST00000580982.5",
          "protein_id": "ENSP00000463425.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "feature": 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": 15,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
          "hgvs_c": "c.902+556T>A",
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          "transcript": "NM_001354065.2",
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          "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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          ],
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          "exon_count": 14,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
          "hgvs_c": "c.605+556T>A",
          "hgvs_p": null,
          "transcript": "NM_001318760.2",
          "protein_id": "NP_001305689.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 262,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 5364,
          "mane_select": null,
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          "feature": null
        },
        {
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          ],
          "exon_rank": null,
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          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
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          "transcript": "ENST00000581928.5",
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        },
        {
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          ],
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          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
          "hgvs_c": "n.646+556T>A",
          "hgvs_p": null,
          "transcript": "ENST00000582745.5",
          "protein_id": null,
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        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 8,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
          "hgvs_c": "n.1729+556T>A",
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          "transcript": "ENST00000583973.5",
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          "cdna_length": 2057,
          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
          "hgvs_c": "n.3259+556T>A",
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          "gene_symbol": "ENOSF1",
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          "hgvs_c": "n.*535+556T>A",
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          "transcript": "ENST00000584453.5",
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        {
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          ],
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          "gene_symbol": "ENOSF1",
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          "hgvs_c": "n.264+556T>A",
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          "transcript": "ENST00000584646.5",
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          "biotype": null,
          "feature": null
        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 15,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "ENOSF1",
          "gene_hgnc_id": 30365,
          "hgvs_c": "n.*678+556T>A",
          "hgvs_p": null,
          "transcript": "ENST00000585128.6",
          "protein_id": "ENSP00000462925.2",
          "transcript_support_level": 5,
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