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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: 6-18192322-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=18192322&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 18192322,
      "ref": "G",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_001439117.1",
      "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": 22,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "KDM1B",
          "gene_hgnc_id": 21577,
          "hgvs_c": "c.969+941G>T",
          "hgvs_p": null,
          "transcript": "NM_001364614.2",
          "protein_id": "NP_001351543.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 822,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2469,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000650836.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001364614.2"
        },
        {
          "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": 22,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "KDM1B",
          "gene_hgnc_id": 21577,
          "hgvs_c": "c.969+941G>T",
          "hgvs_p": null,
          "transcript": "ENST00000650836.2",
          "protein_id": "ENSP00000499208.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 822,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2469,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001364614.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000650836.2"
        },
        {
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "KDM1B",
          "gene_hgnc_id": 21577,
          "hgvs_c": "c.-18-22685G>T",
          "hgvs_p": null,
          "transcript": "ENST00000546309.6",
          "protein_id": "ENSP00000442670.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 113,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 342,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000546309.6"
        },
        {
          "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": 23,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "KDM1B",
          "gene_hgnc_id": 21577,
          "hgvs_c": "c.996+941G>T",
          "hgvs_p": null,
          "transcript": "NM_001439117.1",
          "protein_id": "NP_001426046.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 832,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2499,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001439117.1"
        },
        {
          "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": 23,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "KDM1B",
          "gene_hgnc_id": 21577,
          "hgvs_c": "c.996+941G>T",
          "hgvs_p": null,
          "transcript": "NM_001439118.1",
          "protein_id": "NP_001426047.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 831,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2496,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001439118.1"
        },
        {
          "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": 22,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "KDM1B",
          "gene_hgnc_id": 21577,
          "hgvs_c": "c.969+941G>T",
          "hgvs_p": null,
          "transcript": "NM_001439119.1",
          "protein_id": "NP_001426048.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 823,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2472,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001439119.1"
        },
        {
          "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": 22,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "KDM1B",
          "gene_hgnc_id": 21577,
          "hgvs_c": "c.969+941G>T",
          "hgvs_p": null,
          "transcript": "ENST00000449850.2",
          "protein_id": "ENSP00000405669.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 823,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2472,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000449850.2"
        },
        {
          "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": 21,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "KDM1B",
          "gene_hgnc_id": 21577,
          "hgvs_c": "c.969+941G>T",
          "hgvs_p": null,
          "transcript": "ENST00000897550.1",
          "protein_id": "ENSP00000567609.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 823,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2472,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897550.1"
        },
        {
          "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": 21,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "KDM1B",
          "gene_hgnc_id": 21577,
          "hgvs_c": "c.969+941G>T",
          "hgvs_p": null,
          "transcript": "NM_001439130.1",
          "protein_id": "NP_001426059.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 822,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2469,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001439130.1"
        },
        {
          "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": 21,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "KDM1B",
          "gene_hgnc_id": 21577,
          "hgvs_c": "c.969+941G>T",
          "hgvs_p": null,
          "transcript": "ENST00000897548.1",
          "protein_id": "ENSP00000567607.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 822,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 11,
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          "gene_symbol": "KDM1B",
          "gene_hgnc_id": 21577,
          "hgvs_c": "c.969+941G>T",
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          "transcript": "ENST00000897549.1",
          "protein_id": "ENSP00000567608.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 822,
          "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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          "consequences": [
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          "intron_rank": 10,
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          "gene_symbol": "KDM1B",
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        {
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          "gene_symbol": "KDM1B",
          "gene_hgnc_id": 21577,
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          "protein_id": "NP_001426049.1",
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        {
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          "intron_rank": 9,
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          "gene_symbol": "KDM1B",
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        {
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          "gene_symbol": "KDM1B",
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          "gene_symbol": "KDM1B",
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          "transcript": "NM_001439124.1",
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        {
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          ],
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          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "KDM1B",
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          "hgvs_c": "c.484-4735G>T",
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          "transcript": "NM_001439127.1",
          "protein_id": "NP_001426056.1",
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