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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: 3-141396377-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=141396377&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 141396377,
      "ref": "T",
      "alt": "C",
      "effect": "5_prime_UTR_variant",
      "transcript": "NM_001080412.3",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-232T>C",
          "hgvs_p": null,
          "transcript": "ENST00000509842.5",
          "protein_id": "ENSP00000426931.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 149,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 452,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000509842.5"
        },
        {
          "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": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-105-7550T>C",
          "hgvs_p": null,
          "transcript": "NM_001376113.1",
          "protein_id": "NP_001363042.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1195,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3588,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000321464.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001376113.1"
        },
        {
          "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": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-105-7550T>C",
          "hgvs_p": null,
          "transcript": "ENST00000321464.7",
          "protein_id": "ENSP00000372635.5",
          "transcript_support_level": 6,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1195,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3588,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001376113.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000321464.7"
        },
        {
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-105-7550T>C",
          "hgvs_p": null,
          "transcript": "ENST00000509883.5",
          "protein_id": "ENSP00000424254.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 770,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2313,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000509883.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-232T>C",
          "hgvs_p": null,
          "transcript": "NM_001080412.3",
          "protein_id": "NP_001073881.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1195,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3588,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001080412.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-232T>C",
          "hgvs_p": null,
          "transcript": "NM_001376114.1",
          "protein_id": "NP_001363043.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1195,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3588,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001376114.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-388T>C",
          "hgvs_p": null,
          "transcript": "NM_001376121.1",
          "protein_id": "NP_001363050.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1195,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3588,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001376121.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-355T>C",
          "hgvs_p": null,
          "transcript": "NM_001376123.1",
          "protein_id": "NP_001363052.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1195,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3588,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001376123.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-330T>C",
          "hgvs_p": null,
          "transcript": "NM_001376124.1",
          "protein_id": "NP_001363053.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1195,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3588,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001376124.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-383T>C",
          "hgvs_p": null,
          "transcript": "NM_001376125.1",
          "protein_id": "NP_001363054.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1195,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3588,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001376125.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-232T>C",
          "hgvs_p": null,
          "transcript": "NM_001376126.1",
          "protein_id": "NP_001363055.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1195,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3588,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001376126.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-355T>C",
          "hgvs_p": null,
          "transcript": "NM_001376143.1",
          "protein_id": "NP_001363072.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1195,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3588,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001376143.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-355T>C",
          "hgvs_p": null,
          "transcript": "NM_001376160.1",
          "protein_id": "NP_001363089.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1195,
          "cds_start": null,
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          "cds_length": 3588,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001376160.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-330T>C",
          "hgvs_p": null,
          "transcript": "NM_001376161.1",
          "protein_id": "NP_001363090.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1195,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3588,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001376161.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-355T>C",
          "hgvs_p": null,
          "transcript": "NM_001376170.1",
          "protein_id": "NP_001363099.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1195,
          "cds_start": null,
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          "cds_length": 3588,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001376170.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-330T>C",
          "hgvs_p": null,
          "transcript": "NM_001376171.1",
          "protein_id": "NP_001363100.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1195,
          "cds_start": null,
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          "cds_length": 3588,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001376171.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-232T>C",
          "hgvs_p": null,
          "transcript": "NM_001376175.1",
          "protein_id": "NP_001363104.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1195,
          "cds_start": null,
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          "cds_length": 3588,
          "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,
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          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-355T>C",
          "hgvs_p": null,
          "transcript": "NM_001376177.1",
          "protein_id": "NP_001363106.1",
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001376177.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-330T>C",
          "hgvs_p": null,
          "transcript": "NM_001376178.1",
          "protein_id": "NP_001363107.1",
          "transcript_support_level": null,
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          "aa_length": 1195,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001376178.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB38",
          "gene_hgnc_id": 26636,
          "hgvs_c": "c.-355T>C",
          "hgvs_p": null,
          "transcript": "NM_001387947.1",
          "protein_id": "NP_001374876.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1195,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3588,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001387947.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
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      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -1.07,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.699,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_001080412.3",
          "gene_symbol": "ZBTB38",
          "hgnc_id": 26636,
          "effects": [
            "5_prime_UTR_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.-232T>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
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