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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: 2-223991938-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=223991938&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 223991938,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_001136530.1",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.550G>A",
          "hgvs_p": "p.Val184Ile",
          "transcript": "NM_001136528.2",
          "protein_id": "NP_001130000.1",
          "transcript_support_level": null,
          "aa_start": 184,
          "aa_end": null,
          "aa_length": 397,
          "cds_start": 550,
          "cds_end": null,
          "cds_length": 1194,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000409304.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001136528.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.550G>A",
          "hgvs_p": "p.Val184Ile",
          "transcript": "ENST00000409304.6",
          "protein_id": "ENSP00000386412.1",
          "transcript_support_level": 1,
          "aa_start": 184,
          "aa_end": null,
          "aa_length": 397,
          "cds_start": 550,
          "cds_end": null,
          "cds_length": 1194,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001136528.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409304.6"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.550G>A",
          "hgvs_p": "p.Val184Ile",
          "transcript": "ENST00000258405.9",
          "protein_id": "ENSP00000258405.4",
          "transcript_support_level": 1,
          "aa_start": 184,
          "aa_end": null,
          "aa_length": 398,
          "cds_start": 550,
          "cds_end": null,
          "cds_length": 1197,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000258405.9"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.550G>A",
          "hgvs_p": "p.Val184Ile",
          "transcript": "ENST00000409840.7",
          "protein_id": "ENSP00000386969.3",
          "transcript_support_level": 1,
          "aa_start": 184,
          "aa_end": null,
          "aa_length": 397,
          "cds_start": 550,
          "cds_end": null,
          "cds_length": 1194,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409840.7"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.550G>A",
          "hgvs_p": "p.Val184Ile",
          "transcript": "ENST00000873015.1",
          "protein_id": "ENSP00000543074.1",
          "transcript_support_level": null,
          "aa_start": 184,
          "aa_end": null,
          "aa_length": 435,
          "cds_start": 550,
          "cds_end": null,
          "cds_length": 1308,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000873015.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.550G>A",
          "hgvs_p": "p.Val184Ile",
          "transcript": "ENST00000957707.1",
          "protein_id": "ENSP00000627766.1",
          "transcript_support_level": null,
          "aa_start": 184,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": 550,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000957707.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.586G>A",
          "hgvs_p": "p.Val196Ile",
          "transcript": "NM_001136530.1",
          "protein_id": "NP_001130002.1",
          "transcript_support_level": null,
          "aa_start": 196,
          "aa_end": null,
          "aa_length": 409,
          "cds_start": 586,
          "cds_end": null,
          "cds_length": 1230,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001136530.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.586G>A",
          "hgvs_p": "p.Val196Ile",
          "transcript": "ENST00000447280.6",
          "protein_id": "ENSP00000415786.2",
          "transcript_support_level": 2,
          "aa_start": 196,
          "aa_end": null,
          "aa_length": 409,
          "cds_start": 586,
          "cds_end": null,
          "cds_length": 1230,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000447280.6"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.550G>A",
          "hgvs_p": "p.Val184Ile",
          "transcript": "NM_006216.4",
          "protein_id": "NP_006207.1",
          "transcript_support_level": null,
          "aa_start": 184,
          "aa_end": null,
          "aa_length": 398,
          "cds_start": 550,
          "cds_end": null,
          "cds_length": 1197,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006216.4"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.550G>A",
          "hgvs_p": "p.Val184Ile",
          "transcript": "ENST00000873018.1",
          "protein_id": "ENSP00000543077.1",
          "transcript_support_level": null,
          "aa_start": 184,
          "aa_end": null,
          "aa_length": 398,
          "cds_start": 550,
          "cds_end": null,
          "cds_length": 1197,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000873018.1"
        },
        {
          "aa_ref": "V",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.550G>A",
          "hgvs_p": "p.Val184Ile",
          "transcript": "ENST00000957695.1",
          "protein_id": "ENSP00000627754.1",
          "transcript_support_level": null,
          "aa_start": 184,
          "aa_end": null,
          "aa_length": 398,
          "cds_start": 550,
          "cds_end": null,
          "cds_length": 1197,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000957695.1"
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        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 5,
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          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SERPINE2",
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          "hgvs_c": "c.550G>A",
          "hgvs_p": "p.Val184Ile",
          "transcript": "ENST00000957697.1",
          "protein_id": "ENSP00000627756.1",
          "transcript_support_level": null,
          "aa_start": 184,
          "aa_end": null,
          "aa_length": 398,
          "cds_start": 550,
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          "cds_length": 1197,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 4,
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          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.550G>A",
          "hgvs_p": "p.Val184Ile",
          "transcript": "ENST00000957702.1",
          "protein_id": "ENSP00000627761.1",
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          "cds_start": 550,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
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          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 4,
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          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.550G>A",
          "hgvs_p": "p.Val184Ile",
          "transcript": "ENST00000957704.1",
          "protein_id": "ENSP00000627763.1",
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          "aa_end": null,
          "aa_length": 398,
          "cds_start": 550,
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          "cdna_start": null,
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          "cdna_length": null,
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        {
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          "aa_alt": "I",
          "canonical": false,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.550G>A",
          "hgvs_p": "p.Val184Ile",
          "transcript": "ENST00000957706.1",
          "protein_id": "ENSP00000627765.1",
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          "aa_end": null,
          "aa_length": 398,
          "cds_start": 550,
          "cds_end": 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": "ENST00000957706.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
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          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.550G>A",
          "hgvs_p": "p.Val184Ile",
          "transcript": "ENST00000873014.1",
          "protein_id": "ENSP00000543073.1",
          "transcript_support_level": null,
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          "aa_end": null,
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          "cds_start": 550,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
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          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.550G>A",
          "hgvs_p": "p.Val184Ile",
          "transcript": "ENST00000873016.1",
          "protein_id": "ENSP00000543075.1",
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "V",
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          "intron_rank": null,
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          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.550G>A",
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          "transcript": "ENST00000873017.1",
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          "cds_start": 550,
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          "biotype": "protein_coding",
          "feature": "ENST00000873017.1"
        },
        {
          "aa_ref": "V",
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          "consequences": [
            "missense_variant"
          ],
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          "intron_rank": null,
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          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.550G>A",
          "hgvs_p": "p.Val184Ile",
          "transcript": "ENST00000873019.1",
          "protein_id": "ENSP00000543078.1",
          "transcript_support_level": null,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000873019.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SERPINE2",
          "gene_hgnc_id": 8951,
          "hgvs_c": "c.550G>A",
          "hgvs_p": "p.Val184Ile",
          "transcript": "ENST00000931209.1",
          "protein_id": "ENSP00000601268.1",
          "transcript_support_level": null,
          "aa_start": 184,
          "aa_end": null,
          "aa_length": 397,
          "cds_start": 550,
          "cds_end": null,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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      "splice_source_selected": "max_spliceai",
      "revel_score": 0.41,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.1293,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.2,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 3.757,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.01,
      "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": -4,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BS2",
      "acmg_by_gene": [
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BS2"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001136530.1",
          "gene_symbol": "SERPINE2",
          "hgnc_id": 8951,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.586G>A",
          "hgvs_p": "p.Val196Ile"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}