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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: 1-51769069-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=51769069&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 51769069,
      "ref": "T",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000428468.6",
      "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": 24,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL9",
          "gene_hgnc_id": 16386,
          "hgvs_c": "c.939-3001T>A",
          "hgvs_p": null,
          "transcript": "NM_024586.6",
          "protein_id": "NP_078862.4",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3660,
          "mane_select": "ENST00000428468.6",
          "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": 24,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL9",
          "gene_hgnc_id": 16386,
          "hgvs_c": "c.939-3001T>A",
          "hgvs_p": null,
          "transcript": "ENST00000428468.6",
          "protein_id": "ENSP00000407168.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3660,
          "mane_select": "NM_024586.6",
          "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": 23,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL9",
          "gene_hgnc_id": 16386,
          "hgvs_c": "c.888-3001T>A",
          "hgvs_p": null,
          "transcript": "ENST00000453295.5",
          "protein_id": "ENSP00000413263.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 719,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2160,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2842,
          "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": 20,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL9",
          "gene_hgnc_id": 16386,
          "hgvs_c": "c.609-3001T>A",
          "hgvs_p": null,
          "transcript": "ENST00000361556.9",
          "protein_id": "ENSP00000354970.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 626,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1881,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2721,
          "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": 20,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL9",
          "gene_hgnc_id": 16386,
          "hgvs_c": "c.405-3001T>A",
          "hgvs_p": null,
          "transcript": "ENST00000462759.5",
          "protein_id": "ENSP00000433279.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 558,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1677,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2755,
          "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": 26,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL9",
          "gene_hgnc_id": 16386,
          "hgvs_c": "c.993-3001T>A",
          "hgvs_p": null,
          "transcript": "NM_001416292.1",
          "protein_id": "NP_001403221.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3372,
          "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": 27,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL9",
          "gene_hgnc_id": 16386,
          "hgvs_c": "c.993-3001T>A",
          "hgvs_p": null,
          "transcript": "NM_001416293.1",
          "protein_id": "NP_001403222.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3514,
          "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": 28,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL9",
          "gene_hgnc_id": 16386,
          "hgvs_c": "c.993-3001T>A",
          "hgvs_p": null,
          "transcript": "NM_001416294.1",
          "protein_id": "NP_001403223.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3629,
          "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": 24,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL9",
          "gene_hgnc_id": 16386,
          "hgvs_c": "c.969-3001T>A",
          "hgvs_p": null,
          "transcript": "NM_148909.4",
          "protein_id": "NP_683707.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 746,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2241,
          "cdna_start": null,
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          "cdna_length": 3690,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL9",
          "gene_hgnc_id": 16386,
          "hgvs_c": "c.969-3001T>A",
          "hgvs_p": null,
          "transcript": "ENST00000447887.5",
          "protein_id": "ENSP00000412733.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 746,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2940,
          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL9",
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          "hgvs_c": "c.954-3001T>A",
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          "transcript": "NM_001416295.1",
          "protein_id": "NP_001403224.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "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": 23,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL9",
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          "hgvs_c": "c.900-3001T>A",
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          "transcript": "NM_148908.4",
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          "gene_symbol": "OSBPL9",
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          "protein_id": "ENSP00000360779.1",
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        {
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          "gene_symbol": "OSBPL9",
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          "transcript": "NM_148906.3",
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        {
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          "gene_symbol": "OSBPL9",
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          "gene_symbol": "OSBPL9",
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          "transcript": "ENST00000531828.5",
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          "transcript": "ENST00000486942.5",
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        },
        {
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          ],
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          "exon_count": 24,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL9",
          "gene_hgnc_id": 16386,
          "hgvs_c": "c.381-3001T>A",
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}