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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: 3-10081409-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=10081409&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 10081409,
      "ref": "A",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_033084.6",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.3169A>G",
          "hgvs_p": "p.Ile1057Val",
          "transcript": "NM_001018115.3",
          "protein_id": "NP_001018125.1",
          "transcript_support_level": null,
          "aa_start": 1057,
          "aa_end": null,
          "aa_length": 1451,
          "cds_start": 3169,
          "cds_end": null,
          "cds_length": 4356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000675286.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001018115.3"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.3169A>G",
          "hgvs_p": "p.Ile1057Val",
          "transcript": "ENST00000675286.1",
          "protein_id": "ENSP00000502379.1",
          "transcript_support_level": null,
          "aa_start": 1057,
          "aa_end": null,
          "aa_length": 1451,
          "cds_start": 3169,
          "cds_end": null,
          "cds_length": 4356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001018115.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000675286.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.3169A>G",
          "hgvs_p": "p.Ile1057Val",
          "transcript": "ENST00000287647.7",
          "protein_id": "ENSP00000287647.3",
          "transcript_support_level": 1,
          "aa_start": 1057,
          "aa_end": null,
          "aa_length": 1471,
          "cds_start": 3169,
          "cds_end": null,
          "cds_length": 4416,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000287647.7"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.3169A>G",
          "hgvs_p": "p.Ile1057Val",
          "transcript": "ENST00000419585.5",
          "protein_id": "ENSP00000398754.1",
          "transcript_support_level": 1,
          "aa_start": 1057,
          "aa_end": null,
          "aa_length": 1451,
          "cds_start": 3169,
          "cds_end": null,
          "cds_length": 4356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000419585.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2OS",
          "gene_hgnc_id": 28623,
          "hgvs_c": "c.*166T>C",
          "hgvs_p": null,
          "transcript": "ENST00000524279.1",
          "protein_id": "ENSP00000429663.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 177,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 534,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000524279.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "n.1666A>G",
          "hgvs_p": null,
          "transcript": "ENST00000421731.5",
          "protein_id": "ENSP00000389936.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000421731.5"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.3241A>G",
          "hgvs_p": "p.Ile1081Val",
          "transcript": "ENST00000915105.1",
          "protein_id": "ENSP00000585164.1",
          "transcript_support_level": null,
          "aa_start": 1081,
          "aa_end": null,
          "aa_length": 1475,
          "cds_start": 3241,
          "cds_end": null,
          "cds_length": 4428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915105.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.3169A>G",
          "hgvs_p": "p.Ile1057Val",
          "transcript": "NM_033084.6",
          "protein_id": "NP_149075.2",
          "transcript_support_level": null,
          "aa_start": 1057,
          "aa_end": null,
          "aa_length": 1471,
          "cds_start": 3169,
          "cds_end": null,
          "cds_length": 4416,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_033084.6"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.3169A>G",
          "hgvs_p": "p.Ile1057Val",
          "transcript": "NM_001374254.1",
          "protein_id": "NP_001361183.1",
          "transcript_support_level": null,
          "aa_start": 1057,
          "aa_end": null,
          "aa_length": 1458,
          "cds_start": 3169,
          "cds_end": null,
          "cds_length": 4377,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001374254.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.3169A>G",
          "hgvs_p": "p.Ile1057Val",
          "transcript": "NM_001319984.2",
          "protein_id": "NP_001306913.1",
          "transcript_support_level": null,
          "aa_start": 1057,
          "aa_end": null,
          "aa_length": 1451,
          "cds_start": 3169,
          "cds_end": null,
          "cds_length": 4356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001319984.2"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.3169A>G",
          "hgvs_p": "p.Ile1057Val",
          "transcript": "ENST00000915101.1",
          "protein_id": "ENSP00000585160.1",
          "transcript_support_level": null,
          "aa_start": 1057,
          "aa_end": null,
          "aa_length": 1451,
          "cds_start": 3169,
          "cds_end": null,
          "cds_length": 4356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915101.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.3166A>G",
          "hgvs_p": "p.Ile1056Val",
          "transcript": "ENST00000915096.1",
          "protein_id": "ENSP00000585155.1",
          "transcript_support_level": null,
          "aa_start": 1056,
          "aa_end": null,
          "aa_length": 1450,
          "cds_start": 3166,
          "cds_end": null,
          "cds_length": 4353,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915096.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.3160A>G",
          "hgvs_p": "p.Ile1054Val",
          "transcript": "ENST00000915113.1",
          "protein_id": "ENSP00000585172.1",
          "transcript_support_level": null,
          "aa_start": 1054,
          "aa_end": null,
          "aa_length": 1448,
          "cds_start": 3160,
          "cds_end": null,
          "cds_length": 4347,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915113.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.3133A>G",
          "hgvs_p": "p.Ile1045Val",
          "transcript": "ENST00000915095.1",
          "protein_id": "ENSP00000585154.1",
          "transcript_support_level": null,
          "aa_start": 1045,
          "aa_end": null,
          "aa_length": 1439,
          "cds_start": 3133,
          "cds_end": null,
          "cds_length": 4320,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000915095.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.3169A>G",
          "hgvs_p": "p.Ile1057Val",
          "transcript": "ENST00000915104.1",
          "protein_id": "ENSP00000585163.1",
          "transcript_support_level": null,
          "aa_start": 1057,
          "aa_end": null,
          "aa_length": 1438,
          "cds_start": 3169,
          "cds_end": null,
          "cds_length": 4317,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915104.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.3169A>G",
          "hgvs_p": "p.Ile1057Val",
          "transcript": "ENST00000915106.1",
          "protein_id": "ENSP00000585165.1",
          "transcript_support_level": null,
          "aa_start": 1057,
          "aa_end": null,
          "aa_length": 1438,
          "cds_start": 3169,
          "cds_end": null,
          "cds_length": 4317,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915106.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.3169A>G",
          "hgvs_p": "p.Ile1057Val",
          "transcript": "ENST00000915108.1",
          "protein_id": "ENSP00000585167.1",
          "transcript_support_level": null,
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          "aa_length": 1431,
          "cds_start": 3169,
          "cds_end": 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": "ENST00000915108.1"
        },
        {
          "aa_ref": "I",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.3085A>G",
          "hgvs_p": "p.Ile1029Val",
          "transcript": "ENST00000915110.1",
          "protein_id": "ENSP00000585169.1",
          "transcript_support_level": null,
          "aa_start": 1029,
          "aa_end": null,
          "aa_length": 1423,
          "cds_start": 3085,
          "cds_end": null,
          "cds_length": 4272,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915110.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.3058A>G",
          "hgvs_p": "p.Ile1020Val",
          "transcript": "NM_001374253.1",
          "protein_id": "NP_001361182.1",
          "transcript_support_level": null,
          "aa_start": 1020,
          "aa_end": null,
          "aa_length": 1414,
          "cds_start": 3058,
          "cds_end": null,
          "cds_length": 4245,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001374253.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.3058A>G",
          "hgvs_p": "p.Ile1020Val",
          "transcript": "ENST00000915109.1",
          "protein_id": "ENSP00000585168.1",
          "transcript_support_level": null,
          "aa_start": 1020,
          "aa_end": null,
          "aa_length": 1414,
          "cds_start": 3058,
          "cds_end": null,
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      "computational_score_selected": 0.08039963245391846,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.034,
      "revel_prediction": "Benign",
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      "bayesdelnoaf_score": -0.66,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.215,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
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          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_033084.6",
          "gene_symbol": "FANCD2",
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          "effects": [
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        {
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            "BP4_Moderate"
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          "verdict": "Uncertain_significance",
          "transcript": "NM_173472.2",
          "gene_symbol": "FANCD2OS",
          "hgnc_id": 28623,
          "effects": [
            "3_prime_UTR_variant"
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          "hgvs_c": "c.*166T>C",
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      "clinvar_disease": "Fanconi anemia",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Fanconi anemia",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.