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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: 14-91126957-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=91126957&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 91126957,
      "ref": "A",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000256324.15",
      "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": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DGLUCY",
          "gene_hgnc_id": 20498,
          "hgvs_c": "c.-82+12674A>T",
          "hgvs_p": null,
          "transcript": "NM_001102368.3",
          "protein_id": "NP_001095838.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2957,
          "mane_select": "ENST00000256324.15",
          "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": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DGLUCY",
          "gene_hgnc_id": 20498,
          "hgvs_c": "c.-82+12674A>T",
          "hgvs_p": null,
          "transcript": "ENST00000256324.15",
          "protein_id": "ENSP00000256324.9",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2957,
          "mane_select": "NM_001102368.3",
          "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": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DGLUCY",
          "gene_hgnc_id": 20498,
          "hgvs_c": "c.-175+11963A>T",
          "hgvs_p": null,
          "transcript": "ENST00000522322.5",
          "protein_id": "ENSP00000427953.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 616,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1851,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2856,
          "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": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DGLUCY",
          "gene_hgnc_id": 20498,
          "hgvs_c": "c.-82+11736A>T",
          "hgvs_p": null,
          "transcript": "ENST00000523771.5",
          "protein_id": "ENSP00000429655.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 616,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1851,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2976,
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DGLUCY",
          "gene_hgnc_id": 20498,
          "hgvs_c": "c.-253+12429A>T",
          "hgvs_p": null,
          "transcript": "ENST00000523816.5",
          "protein_id": "ENSP00000428974.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 616,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1851,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2764,
          "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": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DGLUCY",
          "gene_hgnc_id": 20498,
          "hgvs_c": "c.-253+12674A>T",
          "hgvs_p": null,
          "transcript": "ENST00000521077.6",
          "protein_id": "ENSP00000430137.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 581,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1746,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2719,
          "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": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DGLUCY",
          "gene_hgnc_id": 20498,
          "hgvs_c": "c.-175+12429A>T",
          "hgvs_p": null,
          "transcript": "ENST00000517518.5",
          "protein_id": "ENSP00000428652.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 430,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1295,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1597,
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DGLUCY",
          "gene_hgnc_id": 20498,
          "hgvs_c": "c.-253+12674A>T",
          "hgvs_p": null,
          "transcript": "ENST00000518665.6",
          "protein_id": "ENSP00000429098.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 159,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 480,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 959,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "DGLUCY",
          "gene_hgnc_id": 20498,
          "hgvs_c": "c.-82+11963A>T",
          "hgvs_p": null,
          "transcript": "ENST00000523894.5",
          "protein_id": "ENSP00000429459.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 151,
          "cds_start": -4,
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          "cds_length": 456,
          "cdna_start": null,
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          "cdna_length": 862,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DGLUCY",
          "gene_hgnc_id": 20498,
          "hgvs_c": "n.-30+12674A>T",
          "hgvs_p": null,
          "transcript": "ENST00000519994.5",
          "protein_id": "ENSP00000429967.1",
          "transcript_support_level": 1,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1148,
          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "exon_count": 17,
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          "gene_symbol": "DGLUCY",
          "gene_hgnc_id": 20498,
          "hgvs_c": "c.-532+12429A>T",
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          "transcript": "NM_001286470.2",
          "protein_id": "NP_001273399.1",
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          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3652,
          "mane_select": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          "intron_rank": 1,
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          "gene_symbol": "DGLUCY",
          "gene_hgnc_id": 20498,
          "hgvs_c": "c.-81-30682A>T",
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          "transcript": "NM_001358310.2",
          "protein_id": "NP_001345239.1",
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          "gene_symbol": "DGLUCY",
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          "hgvs_c": "c.-81-30682A>T",
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          "gene_symbol": "DGLUCY",
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          "transcript": "ENST00000518868.5",
          "protein_id": "ENSP00000428263.1",
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        {
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          "transcript": "NM_001102367.2",
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          "gene_symbol": "DGLUCY",
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        {
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        {
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          "intron_rank": 1,
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          "gene_symbol": "DGLUCY",
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