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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: 5-67156347-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=67156347&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 67156347,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001393524.1",
      "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": 29,
          "intron_rank": 26,
          "intron_rank_end": null,
          "gene_symbol": "MAST4",
          "gene_hgnc_id": 19037,
          "hgvs_c": "c.3648+2767G>C",
          "hgvs_p": null,
          "transcript": "NM_001164664.2",
          "protein_id": "NP_001158136.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2623,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 7872,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000403625.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001164664.2"
        },
        {
          "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": 29,
          "intron_rank": 26,
          "intron_rank_end": null,
          "gene_symbol": "MAST4",
          "gene_hgnc_id": 19037,
          "hgvs_c": "c.3648+2767G>C",
          "hgvs_p": null,
          "transcript": "ENST00000403625.7",
          "protein_id": "ENSP00000385727.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2623,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 7872,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001164664.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000403625.7"
        },
        {
          "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": 28,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "MAST4",
          "gene_hgnc_id": 19037,
          "hgvs_c": "c.3081+2767G>C",
          "hgvs_p": null,
          "transcript": "ENST00000403666.5",
          "protein_id": "ENSP00000384313.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2434,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 7305,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000403666.5"
        },
        {
          "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": 8,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "MAST4",
          "gene_hgnc_id": 19037,
          "hgvs_c": "c.816+2767G>C",
          "hgvs_p": null,
          "transcript": "ENST00000443808.1",
          "protein_id": "ENSP00000400551.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1679,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5040,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000443808.1"
        },
        {
          "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": 30,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "MAST4",
          "gene_hgnc_id": 19037,
          "hgvs_c": "c.3657+2767G>C",
          "hgvs_p": null,
          "transcript": "NM_001393524.1",
          "protein_id": "NP_001380453.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2626,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 7881,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001393524.1"
        },
        {
          "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": 28,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "MAST4",
          "gene_hgnc_id": 19037,
          "hgvs_c": "c.3447+2767G>C",
          "hgvs_p": null,
          "transcript": "NM_001393525.1",
          "protein_id": "NP_001380454.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2556,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 7671,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001393525.1"
        },
        {
          "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": 28,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "MAST4",
          "gene_hgnc_id": 19037,
          "hgvs_c": "c.3111+2767G>C",
          "hgvs_p": null,
          "transcript": "ENST00000405643.5",
          "protein_id": "ENSP00000384099.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2444,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 7335,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000405643.5"
        },
        {
          "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": 28,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "MAST4",
          "gene_hgnc_id": 19037,
          "hgvs_c": "c.3081+2767G>C",
          "hgvs_p": null,
          "transcript": "NM_015183.3",
          "protein_id": "NP_055998.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2434,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 7305,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015183.3"
        },
        {
          "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": 26,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "MAST4",
          "gene_hgnc_id": 19037,
          "hgvs_c": "c.3066+2767G>C",
          "hgvs_p": null,
          "transcript": "NM_001297651.2",
          "protein_id": "NP_001284580.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2429,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 7290,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001297651.2"
        },
        {
          "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": 26,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "MAST4",
          "gene_hgnc_id": 19037,
          "hgvs_c": "c.3066+2767G>C",
          "hgvs_p": null,
          "transcript": "ENST00000261569.11",
          "protein_id": "ENSP00000261569.7",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2429,
          "cds_start": null,
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          "cdna_start": null,
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        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 24,
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          "gene_symbol": "MAST4",
          "gene_hgnc_id": 19037,
          "hgvs_c": "c.3030+2767G>C",
          "hgvs_p": null,
          "transcript": "NM_001290226.2",
          "protein_id": "NP_001277155.1",
          "transcript_support_level": null,
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          "cds_start": null,
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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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          "gene_symbol": "MAST4",
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        {
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          "gene_symbol": "MAST4",
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          "transcript": "NM_001393527.1",
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        {
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          "gene_symbol": "MAST4",
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          "gene_symbol": "MAST4",
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      "clinvar_classification": "",
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}