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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: 4-112904455-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=112904455&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 112904455,
      "ref": "G",
      "alt": "T",
      "effect": "splice_region_variant",
      "transcript": "NM_001386142.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.-39G>T",
          "hgvs_p": null,
          "transcript": "ENST00000506722.5",
          "protein_id": "ENSP00000421067.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1863,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5592,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8051,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.-39G>T",
          "hgvs_p": null,
          "transcript": "ENST00000506722.5",
          "protein_id": "ENSP00000421067.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1863,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5592,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8051,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.-39G>T",
          "hgvs_p": null,
          "transcript": "ENST00000672209.1",
          "protein_id": "ENSP00000499982.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3995,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 11988,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 14932,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.-39G>T",
          "hgvs_p": null,
          "transcript": "ENST00000673298.1",
          "protein_id": "ENSP00000500245.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3964,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 11895,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 14363,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.-39G>T",
          "hgvs_p": null,
          "transcript": "ENST00000503423.6",
          "protein_id": "ENSP00000421011.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3961,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 11886,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 12641,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.-39G>T",
          "hgvs_p": null,
          "transcript": "NM_001386142.1",
          "protein_id": "NP_001373071.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3940,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 11823,
          "cdna_start": null,
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          "cdna_length": 14287,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.-39G>T",
          "hgvs_p": null,
          "transcript": "ENST00000672830.1",
          "protein_id": "ENSP00000500222.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 3936,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 11811,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 14771,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.-39G>T",
          "hgvs_p": null,
          "transcript": "ENST00000672068.1",
          "protein_id": "ENSP00000499902.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3934,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 11805,
          "cdna_start": null,
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          "cdna_length": 14485,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.-39G>T",
          "hgvs_p": null,
          "transcript": "ENST00000671809.1",
          "protein_id": "ENSP00000500872.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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        {
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          "canonical": false,
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          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.-39G>T",
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          "transcript": "ENST00000672090.1",
          "protein_id": "ENSP00000500540.1",
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          "gene_symbol": "ANK2",
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          "hgvs_c": "c.-39G>T",
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