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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: 16-4508614-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4508614&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 4508614,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001286267.2",
      "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": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "HMOX2",
          "gene_hgnc_id": 5014,
          "hgvs_c": "c.696+410G>C",
          "hgvs_p": null,
          "transcript": "NM_002134.4",
          "protein_id": "NP_002125.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 316,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 951,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000570646.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002134.4"
        },
        {
          "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": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "HMOX2",
          "gene_hgnc_id": 5014,
          "hgvs_c": "c.696+410G>C",
          "hgvs_p": null,
          "transcript": "ENST00000570646.6",
          "protein_id": "ENSP00000459214.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 316,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 951,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_002134.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000570646.6"
        },
        {
          "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": 5,
          "intron_rank_end": null,
          "gene_symbol": "HMOX2",
          "gene_hgnc_id": 5014,
          "hgvs_c": "c.858+410G>C",
          "hgvs_p": null,
          "transcript": "NM_001286267.2",
          "protein_id": "NP_001273196.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 370,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286267.2"
        },
        {
          "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": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "HMOX2",
          "gene_hgnc_id": 5014,
          "hgvs_c": "c.858+410G>C",
          "hgvs_p": null,
          "transcript": "ENST00000613539.1",
          "protein_id": "ENSP00000477572.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 370,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000613539.1"
        },
        {
          "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": 5,
          "intron_rank_end": null,
          "gene_symbol": "HMOX2",
          "gene_hgnc_id": 5014,
          "hgvs_c": "c.696+410G>C",
          "hgvs_p": null,
          "transcript": "NM_001127204.2",
          "protein_id": "NP_001120676.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 316,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 951,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001127204.2"
        },
        {
          "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": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "HMOX2",
          "gene_hgnc_id": 5014,
          "hgvs_c": "c.696+410G>C",
          "hgvs_p": null,
          "transcript": "NM_001127205.2",
          "protein_id": "NP_001120677.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 316,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 951,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001127205.2"
        },
        {
          "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": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "HMOX2",
          "gene_hgnc_id": 5014,
          "hgvs_c": "c.696+410G>C",
          "hgvs_p": null,
          "transcript": "NM_001127206.3",
          "protein_id": "NP_001120678.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 316,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 951,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001127206.3"
        },
        {
          "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": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "HMOX2",
          "gene_hgnc_id": 5014,
          "hgvs_c": "c.696+410G>C",
          "hgvs_p": null,
          "transcript": "NM_001286268.2",
          "protein_id": "NP_001273197.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 316,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 951,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286268.2"
        },
        {
          "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": 5,
          "intron_rank_end": null,
          "gene_symbol": "HMOX2",
          "gene_hgnc_id": 5014,
          "hgvs_c": "c.696+410G>C",
          "hgvs_p": null,
          "transcript": "NM_001286269.2",
          "protein_id": "NP_001273198.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 316,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 951,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286269.2"
        },
        {
          "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": 8,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "HMOX2",
          "gene_hgnc_id": 5014,
          "hgvs_c": "c.696+410G>C",
          "hgvs_p": null,
          "transcript": "NM_001286270.2",
          "protein_id": "NP_001273199.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 316,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 951,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "gene_symbol": "HMOX2",
          "gene_hgnc_id": 5014,
          "hgvs_c": "c.696+410G>C",
          "hgvs_p": null,
          "transcript": "ENST00000219700.10",
          "protein_id": "ENSP00000219700.6",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 316,
          "cds_start": null,
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          "cds_length": 951,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "HMOX2",
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          "hgvs_c": "c.696+410G>C",
          "hgvs_p": null,
          "transcript": "ENST00000398595.7",
          "protein_id": "ENSP00000381595.3",
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "gene_symbol": "HMOX2",
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          "transcript": "ENST00000406590.6",
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        {
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          "gene_symbol": "HMOX2",
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          "hgvs_c": "c.696+410G>C",
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          "transcript": "ENST00000414777.5",
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        {
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          "gene_symbol": "HMOX2",
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          "hgvs_c": "c.696+410G>C",
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          "transcript": "ENST00000905896.1",
          "protein_id": "ENSP00000575955.1",
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          "mane_select": null,
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        {
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          ],
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}