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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: X-85244123-A-AGGCGGCGGCGGCGGCGGCGGC (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=85244123&ref=A&alt=AGGCGGCGGCGGCGGCGGCGGC&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 85244123,
      "ref": "A",
      "alt": "AGGCGGCGGCGGCGGCGGCGGC",
      "effect": "5_prime_UTR_variant",
      "transcript": "NM_001330574.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF711",
          "gene_hgnc_id": 13128,
          "hgvs_c": "c.-470_-450dupGGCGGCGGCGGCGGCGGCGGC",
          "hgvs_p": null,
          "transcript": "NM_001330574.2",
          "protein_id": "NP_001317503.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 807,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2424,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000674551.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001330574.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF711",
          "gene_hgnc_id": 13128,
          "hgvs_c": "c.-470_-450dupGGCGGCGGCGGCGGCGGCGGC",
          "hgvs_p": null,
          "transcript": "ENST00000674551.1",
          "protein_id": "ENSP00000502839.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 807,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2424,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001330574.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674551.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF711",
          "gene_hgnc_id": 13128,
          "hgvs_c": "c.-465_-445dupGGCGGCGGCGGCGGCGGCGGC",
          "hgvs_p": null,
          "transcript": "ENST00000276123.7",
          "protein_id": "ENSP00000276123.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 761,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2286,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000276123.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF711",
          "gene_hgnc_id": 13128,
          "hgvs_c": "c.-211_-191dupGGCGGCGGCGGCGGCGGCGGC",
          "hgvs_p": null,
          "transcript": "ENST00000373165.7",
          "protein_id": "ENSP00000362260.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 761,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2286,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000373165.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF711",
          "gene_hgnc_id": 13128,
          "hgvs_c": "c.-91_-71dupGGCGGCGGCGGCGGCGGCGGC",
          "hgvs_p": null,
          "transcript": "NM_001375431.1",
          "protein_id": "NP_001362360.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 807,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2424,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375431.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF711",
          "gene_hgnc_id": 13128,
          "hgvs_c": "c.-465_-445dupGGCGGCGGCGGCGGCGGCGGC",
          "hgvs_p": null,
          "transcript": "NM_001375432.1",
          "protein_id": "NP_001362361.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 807,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2424,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375432.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF711",
          "gene_hgnc_id": 13128,
          "hgvs_c": "c.-828_-808dupGGCGGCGGCGGCGGCGGCGGC",
          "hgvs_p": null,
          "transcript": "NM_001375433.1",
          "protein_id": "NP_001362362.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 807,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2424,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375433.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF711",
          "gene_hgnc_id": 13128,
          "hgvs_c": "c.-1735_-1715dupGGCGGCGGCGGCGGCGGCGGC",
          "hgvs_p": null,
          "transcript": "ENST00000881748.1",
          "protein_id": "ENSP00000551807.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 807,
          "cds_start": null,
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          "cds_length": 2424,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000881748.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF711",
          "gene_hgnc_id": 13128,
          "hgvs_c": "c.-211_-191dupGGCGGCGGCGGCGGCGGCGGC",
          "hgvs_p": null,
          "transcript": "ENST00000881753.1",
          "protein_id": "ENSP00000551812.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 807,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000881753.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
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          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF711",
          "gene_hgnc_id": 13128,
          "hgvs_c": "c.-485_-465dupGGCGGCGGCGGCGGCGGCGGC",
          "hgvs_p": null,
          "transcript": "ENST00000881755.1",
          "protein_id": "ENSP00000551814.1",
          "transcript_support_level": null,
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          "cds_start": null,
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF711",
          "gene_hgnc_id": 13128,
          "hgvs_c": "c.-465_-445dupGGCGGCGGCGGCGGCGGCGGC",
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          "transcript": "ENST00000881756.1",
          "protein_id": "ENSP00000551815.1",
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          "intron_rank": null,
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          "gene_symbol": "ZNF711",
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          "transcript": "ENST00000881760.1",
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        {
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          "transcript": "ENST00000939582.1",
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