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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: 15-80076521-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=80076521&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 80076521,
      "ref": "T",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_019006.4",
      "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND6",
          "gene_hgnc_id": 30164,
          "hgvs_c": "c.-181+16712T>A",
          "hgvs_p": null,
          "transcript": "NM_019006.4",
          "protein_id": "NP_061879.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 208,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 627,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000261749.11",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_019006.4"
        },
        {
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND6",
          "gene_hgnc_id": 30164,
          "hgvs_c": "c.-181+16712T>A",
          "hgvs_p": null,
          "transcript": "ENST00000261749.11",
          "protein_id": "ENSP00000261749.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 208,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 627,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_019006.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000261749.11"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND6",
          "gene_hgnc_id": 30164,
          "hgvs_c": "c.-18+16712T>A",
          "hgvs_p": null,
          "transcript": "ENST00000558494.5",
          "protein_id": "ENSP00000454137.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 208,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 627,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000558494.5"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND6",
          "gene_hgnc_id": 30164,
          "hgvs_c": "c.-18+3874T>A",
          "hgvs_p": null,
          "transcript": "ENST00000559835.5",
          "protein_id": "ENSP00000453291.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 208,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 627,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000559835.5"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND6",
          "gene_hgnc_id": 30164,
          "hgvs_c": "c.-18+16712T>A",
          "hgvs_p": null,
          "transcript": "ENST00000561060.5",
          "protein_id": "ENSP00000452735.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 208,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 627,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000561060.5"
        },
        {
          "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": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND6",
          "gene_hgnc_id": 30164,
          "hgvs_c": "c.-1227T>A",
          "hgvs_p": null,
          "transcript": "ENST00000891437.1",
          "protein_id": "ENSP00000561496.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 208,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 627,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891437.1"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND6",
          "gene_hgnc_id": 30164,
          "hgvs_c": "c.-18+16712T>A",
          "hgvs_p": null,
          "transcript": "ENST00000891391.1",
          "protein_id": "ENSP00000561450.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891391.1"
        },
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND6",
          "gene_hgnc_id": 30164,
          "hgvs_c": "c.-18+16712T>A",
          "hgvs_p": null,
          "transcript": "NM_001242911.2",
          "protein_id": "NP_001229840.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 208,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 627,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001242911.2"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND6",
          "gene_hgnc_id": 30164,
          "hgvs_c": "c.-18+1279T>A",
          "hgvs_p": null,
          "transcript": "NM_001242912.2",
          "protein_id": "NP_001229841.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 208,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 627,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001242912.2"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND6",
          "gene_hgnc_id": 30164,
          "hgvs_c": "c.-181+1279T>A",
          "hgvs_p": null,
          "transcript": "NM_001242913.2",
          "protein_id": "NP_001229842.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 208,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 627,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001242913.2"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND6",
          "gene_hgnc_id": 30164,
          "hgvs_c": "c.-181+16274T>A",
          "hgvs_p": null,
          "transcript": "NM_001242914.2",
          "protein_id": "NP_001229843.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 208,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 627,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001242914.2"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND6",
          "gene_hgnc_id": 30164,
          "hgvs_c": "c.-18+3874T>A",
          "hgvs_p": null,
          "transcript": "NM_001242915.2",
          "protein_id": "NP_001229844.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 208,
          "cds_start": null,
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          "cds_length": 627,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001242915.2"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 1,
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          "gene_symbol": "ZFAND6",
          "gene_hgnc_id": 30164,
          "hgvs_c": "c.-181+3874T>A",
          "hgvs_p": null,
          "transcript": "NM_001242916.2",
          "protein_id": "NP_001229845.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001242916.2"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND6",
          "gene_hgnc_id": 30164,
          "hgvs_c": "c.-18+1279T>A",
          "hgvs_p": null,
          "transcript": "ENST00000558087.5",
          "protein_id": "ENSP00000453888.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 208,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "gene_symbol": "ZFAND6",
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          "hgvs_c": "c.-181+3874T>A",
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          "transcript": "ENST00000559775.5",
          "protein_id": "ENSP00000453709.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000559775.5"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
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            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND6",
          "gene_hgnc_id": 30164,
          "hgvs_c": "c.-18+1279T>A",
          "hgvs_p": null,
          "transcript": "ENST00000613266.4",
          "protein_id": "ENSP00000479071.1",
          "transcript_support_level": 3,
          "aa_start": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000613266.4"
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        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND6",
          "gene_hgnc_id": 30164,
          "hgvs_c": "c.-181+1279T>A",
          "hgvs_p": null,
          "transcript": "ENST00000616533.4",
          "protein_id": "ENSP00000478129.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "cds_start": null,
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        {
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          ],
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          "intron_rank": 1,
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          "gene_symbol": "ZFAND6",
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          "hgvs_c": "c.-181+16274T>A",
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          "transcript": "ENST00000618205.4",
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        {
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          ],
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          "intron_rank": 1,
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          "gene_symbol": "ZFAND6",
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          "hgvs_c": "c.-18+16558T>A",
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          "transcript": "ENST00000891383.1",
          "protein_id": "ENSP00000561442.1",
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        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND6",
          "gene_hgnc_id": 30164,
          "hgvs_c": "c.-181+16558T>A",
          "hgvs_p": null,
          "transcript": "ENST00000891384.1",
          "protein_id": "ENSP00000561443.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 208,
          "cds_start": null,
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          "cds_length": 627,
          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000891384.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.86,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.906,
      "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_019006.4",
          "gene_symbol": "ZFAND6",
          "hgnc_id": 30164,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.-181+16712T>A",
          "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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