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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: 10-80425873-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=80425873&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 80425873,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_032333.5",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "NM_032333.5",
          "protein_id": "NP_115709.3",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 278,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000606162.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_032333.5"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "ENST00000606162.6",
          "protein_id": "ENSP00000482445.1",
          "transcript_support_level": 1,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 278,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_032333.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000606162.6"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "ENST00000372187.9",
          "protein_id": "ENSP00000361261.5",
          "transcript_support_level": 1,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 278,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000372187.9"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "NM_001243778.2",
          "protein_id": "NP_001230707.1",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 278,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001243778.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "NM_001243779.2",
          "protein_id": "NP_001230708.1",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 278,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001243779.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "NM_001243780.2",
          "protein_id": "NP_001230709.1",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 278,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001243780.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "ENST00000372181.1",
          "protein_id": "ENSP00000361254.1",
          "transcript_support_level": 2,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 278,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000372181.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "ENST00000372188.5",
          "protein_id": "ENSP00000361262.1",
          "transcript_support_level": 2,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 278,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000372188.5"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "ENST00000615554.4",
          "protein_id": "ENSP00000478152.1",
          "transcript_support_level": 5,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 278,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000615554.4"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "ENST00000870438.1",
          "protein_id": "ENSP00000540497.1",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 278,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870438.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "ENST00000870439.1",
          "protein_id": "ENSP00000540498.1",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 278,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870439.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "ENST00000870440.1",
          "protein_id": "ENSP00000540499.1",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 278,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870440.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "ENST00000870441.1",
          "protein_id": "ENSP00000540500.1",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 278,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870441.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "ENST00000870442.1",
          "protein_id": "ENSP00000540501.1",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 278,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870442.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
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          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "ENST00000870443.1",
          "protein_id": "ENSP00000540502.1",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
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          "cds_start": 278,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870443.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "ENST00000870444.1",
          "protein_id": "ENSP00000540503.1",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 278,
          "cds_end": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000870444.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "ENST00000870446.1",
          "protein_id": "ENSP00000540505.1",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 278,
          "cds_end": 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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        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
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            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "ENST00000870447.1",
          "protein_id": "ENSP00000540506.1",
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          "aa_length": 229,
          "cds_start": 278,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000870447.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
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          "protein_coding": true,
          "strand": true,
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          ],
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "ENST00000870448.1",
          "protein_id": "ENSP00000540507.1",
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          "cds_start": 278,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870448.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRXL2A",
          "gene_hgnc_id": 28651,
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val",
          "transcript": "ENST00000870449.1",
          "protein_id": "ENSP00000540508.1",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 278,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870449.1"
        },
        {
          "aa_ref": "A",
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      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 4.629,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.12,
      "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": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 2,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_032333.5",
          "gene_symbol": "PRXL2A",
          "hgnc_id": 28651,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.278C>T",
          "hgvs_p": "p.Ala93Val"
        }
      ],
      "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
}