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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: 3-55529316-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=55529316&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 55529316,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_015576.3",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.*40-18040A>G",
          "hgvs_p": null,
          "transcript": "NM_015576.3",
          "protein_id": "NP_056391.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 957,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2874,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6239,
          "mane_select": "ENST00000288221.11",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015576.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.*40-18040A>G",
          "hgvs_p": null,
          "transcript": "ENST00000288221.11",
          "protein_id": "ENSP00000288221.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 957,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2874,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6239,
          "mane_select": "NM_015576.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000288221.11"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "n.*227-18040A>G",
          "hgvs_p": null,
          "transcript": "ENST00000460849.5",
          "protein_id": "ENSP00000417445.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3831,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000460849.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "n.552-18040A>G",
          "hgvs_p": null,
          "transcript": "ENST00000484530.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2594,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000484530.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "n.523-18040A>G",
          "hgvs_p": null,
          "transcript": "ENST00000486496.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3488,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000486496.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.*40-18040A>G",
          "hgvs_p": null,
          "transcript": "ENST00000940588.1",
          "protein_id": "ENSP00000610647.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 967,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2904,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6130,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940588.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.*40-18040A>G",
          "hgvs_p": null,
          "transcript": "ENST00000492584.3",
          "protein_id": "ENSP00000417280.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 965,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2898,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6210,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000492584.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.*40-18040A>G",
          "hgvs_p": null,
          "transcript": "ENST00000941628.1",
          "protein_id": "ENSP00000611687.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 965,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2898,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6151,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000941628.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.*160-18040A>G",
          "hgvs_p": null,
          "transcript": "XM_047447941.1",
          "protein_id": "XP_047303897.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1001,
          "cds_start": null,
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          "cds_length": 3006,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6372,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047447941.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
          "hgvs_c": "c.*131-18040A>G",
          "hgvs_p": null,
          "transcript": "XM_017006141.2",
          "protein_id": "XP_016861630.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 986,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": 6417,
          "mane_select": null,
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        {
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          "canonical": false,
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          "consequences": [
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          "gene_symbol": "ERC2",
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          "hgvs_c": "c.*131-18040A>G",
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          "transcript": "XM_047447942.1",
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          "aa_length": 984,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
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        {
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          "hgvs_c": "c.*131-18040A>G",
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          "gene_symbol": "ERC2",
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          "gene_symbol": "ERC2",
          "gene_hgnc_id": 31922,
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          "transcript": "XM_047447948.1",
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        {
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}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.