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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: 16-58504632-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=58504632&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 58504632,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000570248.6",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.355G>A",
          "hgvs_p": "p.Val119Met",
          "transcript": "NM_001242835.2",
          "protein_id": "NP_001229764.1",
          "transcript_support_level": null,
          "aa_start": 119,
          "aa_end": null,
          "aa_length": 352,
          "cds_start": 355,
          "cds_end": null,
          "cds_length": 1059,
          "cdna_start": 461,
          "cdna_end": null,
          "cdna_length": 3208,
          "mane_select": "ENST00000570248.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.355G>A",
          "hgvs_p": "p.Val119Met",
          "transcript": "ENST00000570248.6",
          "protein_id": "ENSP00000457659.1",
          "transcript_support_level": 1,
          "aa_start": 119,
          "aa_end": null,
          "aa_length": 352,
          "cds_start": 355,
          "cds_end": null,
          "cds_length": 1059,
          "cdna_start": 461,
          "cdna_end": null,
          "cdna_length": 3208,
          "mane_select": "NM_001242835.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.511G>A",
          "hgvs_p": "p.Val171Met",
          "transcript": "ENST00000394282.8",
          "protein_id": "ENSP00000377823.4",
          "transcript_support_level": 1,
          "aa_start": 171,
          "aa_end": null,
          "aa_length": 391,
          "cds_start": 511,
          "cds_end": null,
          "cds_length": 1176,
          "cdna_start": 918,
          "cdna_end": null,
          "cdna_length": 3626,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.451G>A",
          "hgvs_p": "p.Val151Met",
          "transcript": "ENST00000258187.9",
          "protein_id": "ENSP00000258187.5",
          "transcript_support_level": 1,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 371,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 1116,
          "cdna_start": 607,
          "cdna_end": null,
          "cdna_length": 3324,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.355G>A",
          "hgvs_p": "p.Val119Met",
          "transcript": "ENST00000566192.5",
          "protein_id": "ENSP00000454410.1",
          "transcript_support_level": 1,
          "aa_start": 119,
          "aa_end": null,
          "aa_length": 339,
          "cds_start": 355,
          "cds_end": null,
          "cds_length": 1020,
          "cdna_start": 557,
          "cdna_end": null,
          "cdna_length": 3265,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.601G>A",
          "hgvs_p": "p.Val201Met",
          "transcript": "NM_001378332.1",
          "protein_id": "NP_001365261.1",
          "transcript_support_level": null,
          "aa_start": 201,
          "aa_end": null,
          "aa_length": 434,
          "cds_start": 601,
          "cds_end": null,
          "cds_length": 1305,
          "cdna_start": 750,
          "cdna_end": null,
          "cdna_length": 3497,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.565G>A",
          "hgvs_p": "p.Val189Met",
          "transcript": "NM_001378333.1",
          "protein_id": "NP_001365262.1",
          "transcript_support_level": null,
          "aa_start": 189,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": 565,
          "cds_end": null,
          "cds_length": 1269,
          "cdna_start": 714,
          "cdna_end": null,
          "cdna_length": 3461,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.601G>A",
          "hgvs_p": "p.Val201Met",
          "transcript": "NM_001378334.1",
          "protein_id": "NP_001365263.1",
          "transcript_support_level": null,
          "aa_start": 201,
          "aa_end": null,
          "aa_length": 421,
          "cds_start": 601,
          "cds_end": null,
          "cds_length": 1266,
          "cdna_start": 750,
          "cdna_end": null,
          "cdna_length": 3458,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.565G>A",
          "hgvs_p": "p.Val189Met",
          "transcript": "NM_001378335.1",
          "protein_id": "NP_001365264.1",
          "transcript_support_level": null,
          "aa_start": 189,
          "aa_end": null,
          "aa_length": 409,
          "cds_start": 565,
          "cds_end": null,
          "cds_length": 1230,
          "cdna_start": 714,
          "cdna_end": null,
          "cdna_length": 3422,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.511G>A",
          "hgvs_p": "p.Val171Met",
          "transcript": "NM_001378336.1",
          "protein_id": "NP_001365265.1",
          "transcript_support_level": null,
          "aa_start": 171,
          "aa_end": null,
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          "cds_start": 511,
          "cds_end": null,
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          "cdna_start": 660,
          "cdna_end": null,
          "cdna_length": 3407,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "strand": true,
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          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "NDRG4",
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          "hgvs_c": "c.544G>A",
          "hgvs_p": "p.Val182Met",
          "transcript": "NM_001378337.1",
          "protein_id": "NP_001365266.1",
          "transcript_support_level": null,
          "aa_start": 182,
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          "aa_length": 402,
          "cds_start": 544,
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          "cdna_start": 654,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "consequences": [
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          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "NDRG4",
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          "hgvs_c": "c.505G>A",
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          "transcript": "NM_001378338.1",
          "protein_id": "NP_001365267.1",
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          "intron_rank": null,
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          "hgvs_p": "p.Val181Met",
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        {
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          "intron_rank": null,
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          "hgvs_c": "c.541G>A",
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          "transcript": "NM_001378340.1",
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        {
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        {
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          "intron_rank": null,
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          "gene_symbol": "NDRG4",
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          "hgvs_p": "p.Val171Met",
          "transcript": "NM_001130487.2",
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        {
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          "intron_rank": null,
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          "gene_symbol": "NDRG4",
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        {
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          "strand": true,
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          ],
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          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.445G>A",
          "hgvs_p": "p.Val149Met",
          "transcript": "NM_001378344.1",
          "protein_id": "NP_001365273.1",
          "transcript_support_level": null,
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          "aa_length": 382,
          "cds_start": 445,
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          "cds_length": 1149,
          "cdna_start": 551,
          "cdna_end": null,
          "cdna_length": 3298,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.451G>A",
          "hgvs_p": "p.Val151Met",
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          "cdna_length": 590,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.*25G>A",
          "hgvs_p": null,
          "transcript": "ENST00000565434.5",
          "protein_id": "ENSP00000456400.1",
          "transcript_support_level": 4,
          "aa_start": null,
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          "aa_length": 141,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 426,
          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "n.*587G>A",
          "hgvs_p": null,
          "transcript": "ENST00000562930.5",
          "protein_id": "ENSP00000455518.1",
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          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 563,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "NDRG4",
      "gene_hgnc_id": 14466,
      "dbsnp": "rs606231463",
      "frequency_reference_population": 0.0000061955107,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 10,
      "gnomad_exomes_af": 0.00000615641,
      "gnomad_genomes_af": 0.00000657117,
      "gnomad_exomes_ac": 9,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.645717442035675,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.352,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.5859,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.01,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 5.14,
      "phylop100way_prediction": "Uncertain_significance",
      "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": 2,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2",
      "acmg_by_gene": [
        {
          "score": 2,
          "benign_score": 0,
          "pathogenic_score": 2,
          "criteria": [
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000570248.6",
          "gene_symbol": "NDRG4",
          "hgnc_id": 14466,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.355G>A",
          "hgvs_p": "p.Val119Met"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}