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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: 7-129702564-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=129702564&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 129702564,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_001293163.2",
      "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NRF1",
          "gene_hgnc_id": 7996,
          "hgvs_c": "c.607-6511G>A",
          "hgvs_p": null,
          "transcript": "NM_005011.5",
          "protein_id": "NP_005002.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 503,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1512,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000393232.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005011.5"
        },
        {
          "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NRF1",
          "gene_hgnc_id": 7996,
          "hgvs_c": "c.607-6511G>A",
          "hgvs_p": null,
          "transcript": "ENST00000393232.6",
          "protein_id": "ENSP00000376924.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 503,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1512,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_005011.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393232.6"
        },
        {
          "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": 12,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NRF1",
          "gene_hgnc_id": 7996,
          "hgvs_c": "c.607-6511G>A",
          "hgvs_p": null,
          "transcript": "ENST00000311967.6",
          "protein_id": "ENSP00000309826.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000311967.6"
        },
        {
          "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NRF1",
          "gene_hgnc_id": 7996,
          "hgvs_c": "c.607-6511G>A",
          "hgvs_p": null,
          "transcript": "ENST00000393230.6",
          "protein_id": "ENSP00000376922.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 503,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1512,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393230.6"
        },
        {
          "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": 12,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NRF1",
          "gene_hgnc_id": 7996,
          "hgvs_c": "c.607-6511G>A",
          "hgvs_p": null,
          "transcript": "NM_001293163.2",
          "protein_id": "NP_001280092.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001293163.2"
        },
        {
          "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": 12,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NRF1",
          "gene_hgnc_id": 7996,
          "hgvs_c": "c.607-6511G>A",
          "hgvs_p": null,
          "transcript": "ENST00000353868.5",
          "protein_id": "ENSP00000342351.5",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000353868.5"
        },
        {
          "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": 12,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NRF1",
          "gene_hgnc_id": 7996,
          "hgvs_c": "c.607-6511G>A",
          "hgvs_p": null,
          "transcript": "ENST00000928009.1",
          "protein_id": "ENSP00000598068.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000928009.1"
        },
        {
          "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NRF1",
          "gene_hgnc_id": 7996,
          "hgvs_c": "c.607-6511G>A",
          "hgvs_p": null,
          "transcript": "ENST00000928018.1",
          "protein_id": "ENSP00000598077.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 511,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1536,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000928018.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NRF1",
          "gene_hgnc_id": 7996,
          "hgvs_c": "c.607-6511G>A",
          "hgvs_p": null,
          "transcript": "ENST00000928011.1",
          "protein_id": "ENSP00000598070.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 504,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1515,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000928011.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NRF1",
          "gene_hgnc_id": 7996,
          "hgvs_c": "c.607-6511G>A",
          "hgvs_p": null,
          "transcript": "ENST00000928013.1",
          "protein_id": "ENSP00000598072.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 504,
          "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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          "strand": true,
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          "intron_rank_end": null,
          "gene_symbol": "NRF1",
          "gene_hgnc_id": 7996,
          "hgvs_c": "c.607-6511G>A",
          "hgvs_p": null,
          "transcript": "ENST00000962505.1",
          "protein_id": "ENSP00000632564.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 504,
          "cds_start": null,
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          "cds_length": 1515,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "aa_alt": null,
          "canonical": false,
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          "gene_symbol": "NRF1",
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          "hgvs_c": "c.607-6511G>A",
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          "cds_start": null,
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        {
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          "gene_symbol": "NRF1",
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          "hgvs_c": "c.607-6511G>A",
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        {
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          "intron_rank": 6,
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          "gene_symbol": "NRF1",
          "gene_hgnc_id": 7996,
          "hgvs_c": "c.607-6511G>A",
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          "transcript": "ENST00000928007.1",
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        {
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        {
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          "intron_rank": 6,
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          "gene_symbol": "NRF1",
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          "hgvs_c": "c.607-6511G>A",
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          "transcript": "ENST00000928012.1",
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        {
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          "intron_rank_end": null,
          "gene_symbol": "NRF1",
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          "hgvs_c": "c.607-6511G>A",
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          "transcript": "ENST00000962504.1",
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        {
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        {
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          "intron_rank": 7,
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          "gene_symbol": "NRF1",
          "gene_hgnc_id": 7996,
          "hgvs_c": "c.607-6511G>A",
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          "transcript": "ENST00000962511.1",
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          "feature": "ENST00000962511.1"
        },
        {
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          "consequences": [
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