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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: 8-141150965-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=141150965&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 141150965,
      "ref": "C",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000519811.6",
      "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": 23,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DENND3",
          "gene_hgnc_id": 29134,
          "hgvs_c": "c.855+12C>A",
          "hgvs_p": null,
          "transcript": "NM_001352890.3",
          "protein_id": "NP_001339819.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1278,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3837,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5527,
          "mane_select": "ENST00000519811.6",
          "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": 23,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DENND3",
          "gene_hgnc_id": 29134,
          "hgvs_c": "c.855+12C>A",
          "hgvs_p": null,
          "transcript": "ENST00000519811.6",
          "protein_id": "ENSP00000428714.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1278,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3837,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5527,
          "mane_select": "NM_001352890.3",
          "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": 21,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "DENND3",
          "gene_hgnc_id": 29134,
          "hgvs_c": "c.615+12C>A",
          "hgvs_p": null,
          "transcript": "ENST00000424248.2",
          "protein_id": "ENSP00000410594.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1146,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3441,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4740,
          "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": 22,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DENND3",
          "gene_hgnc_id": 29134,
          "hgvs_c": "c.855+12C>A",
          "hgvs_p": null,
          "transcript": "NM_001362798.2",
          "protein_id": "NP_001349727.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1296,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3891,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6896,
          "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": 23,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DENND3",
          "gene_hgnc_id": 29134,
          "hgvs_c": "c.654+12C>A",
          "hgvs_p": null,
          "transcript": "NM_014957.5",
          "protein_id": "NP_055772.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1211,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3636,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5478,
          "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": 22,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DENND3",
          "gene_hgnc_id": 29134,
          "hgvs_c": "c.783+12C>A",
          "hgvs_p": null,
          "transcript": "ENST00000518668.5",
          "protein_id": "ENSP00000428276.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1202,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3609,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5185,
          "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": 23,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DENND3",
          "gene_hgnc_id": 29134,
          "hgvs_c": "c.615+12C>A",
          "hgvs_p": null,
          "transcript": "ENST00000262585.6",
          "protein_id": "ENSP00000262585.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1198,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3597,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5438,
          "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": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "DENND3",
          "gene_hgnc_id": 29134,
          "hgvs_c": "c.621+12C>A",
          "hgvs_p": null,
          "transcript": "ENST00000520986.5",
          "protein_id": "ENSP00000429780.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 279,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 840,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 899,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DENND3",
          "gene_hgnc_id": 29134,
          "hgvs_c": "n.974+12C>A",
          "hgvs_p": null,
          "transcript": "NR_148197.3",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 5942,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": 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": 6,
          "intron_rank_end": null,
          "gene_symbol": "DENND3",
          "gene_hgnc_id": 29134,
          "hgvs_c": "c.855+12C>A",
          "hgvs_p": null,
          "transcript": "XM_011516933.3",
          "protein_id": "XP_011515235.2",
          "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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        {
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          "exon_count": 21,
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          "hgvs_c": "c.855+12C>A",
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          "mane_select": null,
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          "canonical": false,
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          "intron_rank": 6,
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          "gene_symbol": "DENND3",
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          "gene_symbol": "DENND3",
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}