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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: 9-136668356-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136668356&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 136668356,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_016215.5",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EGFL7",
          "gene_hgnc_id": 20594,
          "hgvs_c": "c.74G>T",
          "hgvs_p": "p.Arg25Leu",
          "transcript": "NM_016215.5",
          "protein_id": "NP_057299.1",
          "transcript_support_level": null,
          "aa_start": 25,
          "aa_end": null,
          "aa_length": 273,
          "cds_start": 74,
          "cds_end": null,
          "cds_length": 822,
          "cdna_start": 619,
          "cdna_end": null,
          "cdna_length": 1759,
          "mane_select": "ENST00000308874.12",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_016215.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EGFL7",
          "gene_hgnc_id": 20594,
          "hgvs_c": "c.74G>T",
          "hgvs_p": "p.Arg25Leu",
          "transcript": "ENST00000308874.12",
          "protein_id": "ENSP00000307843.7",
          "transcript_support_level": 1,
          "aa_start": 25,
          "aa_end": null,
          "aa_length": 273,
          "cds_start": 74,
          "cds_end": null,
          "cds_length": 822,
          "cdna_start": 619,
          "cdna_end": null,
          "cdna_length": 1759,
          "mane_select": "NM_016215.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000308874.12"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EGFL7",
          "gene_hgnc_id": 20594,
          "hgvs_c": "c.74G>T",
          "hgvs_p": "p.Arg25Leu",
          "transcript": "ENST00000371698.3",
          "protein_id": "ENSP00000360763.3",
          "transcript_support_level": 1,
          "aa_start": 25,
          "aa_end": null,
          "aa_length": 273,
          "cds_start": 74,
          "cds_end": null,
          "cds_length": 822,
          "cdna_start": 142,
          "cdna_end": null,
          "cdna_length": 1282,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371698.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EGFL7",
          "gene_hgnc_id": 20594,
          "hgvs_c": "c.74G>T",
          "hgvs_p": "p.Arg25Leu",
          "transcript": "ENST00000406555.7",
          "protein_id": "ENSP00000385639.3",
          "transcript_support_level": 1,
          "aa_start": 25,
          "aa_end": null,
          "aa_length": 273,
          "cds_start": 74,
          "cds_end": null,
          "cds_length": 822,
          "cdna_start": 389,
          "cdna_end": null,
          "cdna_length": 1529,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000406555.7"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EGFL7",
          "gene_hgnc_id": 20594,
          "hgvs_c": "c.74G>T",
          "hgvs_p": "p.Arg25Leu",
          "transcript": "ENST00000917153.1",
          "protein_id": "ENSP00000587212.1",
          "transcript_support_level": null,
          "aa_start": 25,
          "aa_end": null,
          "aa_length": 369,
          "cds_start": 74,
          "cds_end": null,
          "cds_length": 1110,
          "cdna_start": 146,
          "cdna_end": null,
          "cdna_length": 1574,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000917153.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EGFL7",
          "gene_hgnc_id": 20594,
          "hgvs_c": "c.74G>T",
          "hgvs_p": "p.Arg25Leu",
          "transcript": "NM_201446.3",
          "protein_id": "NP_958854.1",
          "transcript_support_level": null,
          "aa_start": 25,
          "aa_end": null,
          "aa_length": 273,
          "cds_start": 74,
          "cds_end": null,
          "cds_length": 822,
          "cdna_start": 166,
          "cdna_end": null,
          "cdna_length": 1306,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_201446.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EGFL7",
          "gene_hgnc_id": 20594,
          "hgvs_c": "c.74G>T",
          "hgvs_p": "p.Arg25Leu",
          "transcript": "ENST00000371699.5",
          "protein_id": "ENSP00000360764.1",
          "transcript_support_level": 2,
          "aa_start": 25,
          "aa_end": null,
          "aa_length": 273,
          "cds_start": 74,
          "cds_end": null,
          "cds_length": 822,
          "cdna_start": 985,
          "cdna_end": null,
          "cdna_length": 2125,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371699.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EGFL7",
          "gene_hgnc_id": 20594,
          "hgvs_c": "c.74G>T",
          "hgvs_p": "p.Arg25Leu",
          "transcript": "ENST00000893633.1",
          "protein_id": "ENSP00000563692.1",
          "transcript_support_level": null,
          "aa_start": 25,
          "aa_end": null,
          "aa_length": 273,
          "cds_start": 74,
          "cds_end": null,
          "cds_length": 822,
          "cdna_start": 1304,
          "cdna_end": null,
          "cdna_length": 2444,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893633.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EGFL7",
          "gene_hgnc_id": 20594,
          "hgvs_c": "c.74G>T",
          "hgvs_p": "p.Arg25Leu",
          "transcript": "ENST00000893634.1",
          "protein_id": "ENSP00000563693.1",
          "transcript_support_level": null,
          "aa_start": 25,
          "aa_end": null,
          "aa_length": 273,
          "cds_start": 74,
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          "cds_length": 822,
          "cdna_start": 561,
          "cdna_end": null,
          "cdna_length": 1701,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893634.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "EGFL7",
          "gene_hgnc_id": 20594,
          "hgvs_c": "c.74G>T",
          "hgvs_p": "p.Arg25Leu",
          "transcript": "ENST00000893635.1",
          "protein_id": "ENSP00000563694.1",
          "transcript_support_level": null,
          "aa_start": 25,
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          "cds_start": 74,
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          "cdna_start": 1110,
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        {
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          "strand": true,
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          ],
          "exon_rank": 3,
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "EGFL7",
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          "hgvs_c": "c.74G>T",
          "hgvs_p": "p.Arg25Leu",
          "transcript": "ENST00000893636.1",
          "protein_id": "ENSP00000563695.1",
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          "cds_start": 74,
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          "cdna_start": 527,
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          "mane_select": null,
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        {
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          "intron_rank": null,
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          "hgvs_c": "c.74G>T",
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        {
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          ],
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          "gene_symbol": "EGFL7",
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        {
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          "gene_symbol": "EGFL7",
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          "hgvs_c": "c.74G>T",
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        {
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        {
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          "gene_symbol": "EGFL7",
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        {
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          "gene_symbol": "EGFL7",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "EGFL7",
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          "hgvs_c": "c.74G>T",
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          "transcript": "ENST00000893645.1",
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        {
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          "biotype": "pseudogene",
          "feature": "ENST00000492002.1"
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      "gene_symbol": "EGFL7",
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      "allele_count_reference_population": 1,
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      "gnomad_genomes_af": null,
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      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.4411031901836395,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.43,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.1152,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.16,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.235,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "mitotip_score": null,
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      "acmg_score": 2,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2",
      "acmg_by_gene": [
        {
          "score": 2,
          "benign_score": 0,
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          "criteria": [
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_016215.5",
          "gene_symbol": "EGFL7",
          "hgnc_id": 20594,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.74G>T",
          "hgvs_p": "p.Arg25Leu"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "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.