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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: 16-85635770-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=85635770&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 85635770,
      "ref": "C",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_014615.5",
      "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": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GSE1",
          "gene_hgnc_id": 28979,
          "hgvs_c": "c.226+1638C>A",
          "hgvs_p": null,
          "transcript": "NM_014615.5",
          "protein_id": "NP_055430.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1217,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3654,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000253458.12",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_014615.5"
        },
        {
          "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": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GSE1",
          "gene_hgnc_id": 28979,
          "hgvs_c": "c.226+1638C>A",
          "hgvs_p": null,
          "transcript": "ENST00000253458.12",
          "protein_id": "ENSP00000253458.6",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1217,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3654,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_014615.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000253458.12"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "GSE1",
          "gene_hgnc_id": 28979,
          "hgvs_c": "c.8-12782C>A",
          "hgvs_p": null,
          "transcript": "ENST00000393243.5",
          "protein_id": "ENSP00000376934.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1144,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3435,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393243.5"
        },
        {
          "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": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GSE1",
          "gene_hgnc_id": 28979,
          "hgvs_c": "c.-86-12782C>A",
          "hgvs_p": null,
          "transcript": "ENST00000405402.6",
          "protein_id": "ENSP00000384839.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1113,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3342,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000405402.6"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "GSE1",
          "gene_hgnc_id": 28979,
          "hgvs_c": "c.226+1638C>A",
          "hgvs_p": null,
          "transcript": "ENST00000912462.1",
          "protein_id": "ENSP00000582521.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1215,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3648,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912462.1"
        },
        {
          "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": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GSE1",
          "gene_hgnc_id": 28979,
          "hgvs_c": "c.226+1638C>A",
          "hgvs_p": null,
          "transcript": "ENST00000880625.1",
          "protein_id": "ENSP00000550684.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1203,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3612,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000880625.1"
        },
        {
          "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": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GSE1",
          "gene_hgnc_id": 28979,
          "hgvs_c": "c.8-12782C>A",
          "hgvs_p": null,
          "transcript": "NM_001278184.3",
          "protein_id": "NP_001265113.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1144,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3435,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001278184.3"
        },
        {
          "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": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GSE1",
          "gene_hgnc_id": 28979,
          "hgvs_c": "c.8-12782C>A",
          "hgvs_p": null,
          "transcript": "ENST00000880624.1",
          "protein_id": "ENSP00000550683.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1130,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3393,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000880624.1"
        },
        {
          "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": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GSE1",
          "gene_hgnc_id": 28979,
          "hgvs_c": "c.-86-12782C>A",
          "hgvs_p": null,
          "transcript": "NM_001134473.3",
          "protein_id": "NP_001127945.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1113,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3342,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001134473.3"
        },
        {
          "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": 14,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GSE1",
          "gene_hgnc_id": 28979,
          "hgvs_c": "c.226+1638C>A",
          "hgvs_p": null,
          "transcript": "ENST00000880623.1",
          "protein_id": "ENSP00000550682.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1055,
          "cds_start": null,
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          "cds_length": 3168,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000880623.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GSE1",
          "gene_hgnc_id": 28979,
          "hgvs_c": "c.-86-12782C>A",
          "hgvs_p": null,
          "transcript": "ENST00000411612.5",
          "protein_id": "ENSP00000409006.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 209,
          "cds_start": null,
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          "cds_length": 632,
          "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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          "exon_rank": null,
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          "exon_count": 3,
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          "gene_symbol": "GSE1",
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          "hgvs_c": "c.38-12782C>A",
          "hgvs_p": null,
          "transcript": "ENST00000635906.1",
          "protein_id": "ENSP00000490289.1",
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          "aa_start": null,
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          "aa_length": 101,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "consequences": [
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          "intron_rank": 3,
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          "gene_symbol": "GSE1",
          "gene_hgnc_id": 28979,
          "hgvs_c": "c.2350+1638C>A",
          "hgvs_p": null,
          "transcript": "XM_005255859.6",
          "protein_id": "XP_005255916.3",
          "transcript_support_level": null,
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        {
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          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GSE1",
          "gene_hgnc_id": 28979,
          "hgvs_c": "c.2350+1638C>A",
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          "transcript": "XM_005255860.4",
          "protein_id": "XP_005255917.3",
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        {
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          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GSE1",
          "gene_hgnc_id": 28979,
          "hgvs_c": "c.334+1638C>A",
          "hgvs_p": null,
          "transcript": "XM_011522965.4",
          "protein_id": "XP_011521267.1",
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          "intron_rank": 2,
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          "gene_symbol": "GSE1",
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          "hgvs_c": "c.310+1638C>A",
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          "transcript": "XM_047433818.1",
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          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GSE1",
          "gene_hgnc_id": 28979,
          "hgvs_c": "c.256+1638C>A",
          "hgvs_p": null,
          "transcript": "XM_005255864.5",
          "protein_id": "XP_005255921.1",
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "consequences": [
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