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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: 14-78703485-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=78703485&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 78703485,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000335750.7",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NRXN3",
          "gene_hgnc_id": 8010,
          "hgvs_c": "c.1222-5732A>G",
          "hgvs_p": null,
          "transcript": "NM_001330195.2",
          "protein_id": "NP_001317124.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1571,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4716,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 12048,
          "mane_select": "ENST00000335750.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NRXN3",
          "gene_hgnc_id": 8010,
          "hgvs_c": "c.1222-5732A>G",
          "hgvs_p": null,
          "transcript": "ENST00000335750.7",
          "protein_id": "ENSP00000338349.7",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1571,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4716,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 12048,
          "mane_select": "NM_001330195.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NRXN3",
          "gene_hgnc_id": 8010,
          "hgvs_c": "c.103-5732A>G",
          "hgvs_p": null,
          "transcript": "ENST00000554719.5",
          "protein_id": "ENSP00000451648.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1061,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3186,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4156,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NRXN3",
          "gene_hgnc_id": 8010,
          "hgvs_c": "n.566-5732A>G",
          "hgvs_p": null,
          "transcript": "ENST00000556496.2",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2737,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NRXN3",
          "gene_hgnc_id": 8010,
          "hgvs_c": "c.1222-5732A>G",
          "hgvs_p": null,
          "transcript": "NM_001366425.1",
          "protein_id": "NP_001353354.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1541,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4626,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 11958,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "NRXN3",
          "gene_hgnc_id": 8010,
          "hgvs_c": "c.1234-5732A>G",
          "hgvs_p": null,
          "transcript": "NM_001366426.1",
          "protein_id": "NP_001353355.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1468,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4407,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 11739,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "NRXN3",
          "gene_hgnc_id": 8010,
          "hgvs_c": "c.1234-5732A>G",
          "hgvs_p": null,
          "transcript": "ENST00000634499.2",
          "protein_id": "ENSP00000488920.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1468,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4407,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5412,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NRXN3",
          "gene_hgnc_id": 8010,
          "hgvs_c": "c.1216-5732A>G",
          "hgvs_p": null,
          "transcript": "ENST00000554738.5",
          "protein_id": "ENSP00000450683.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1392,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4179,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6446,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NRXN3",
          "gene_hgnc_id": 8010,
          "hgvs_c": "c.463-5732A>G",
          "hgvs_p": null,
          "transcript": "ENST00000635466.2",
          "protein_id": "ENSP00000489551.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1327,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3984,
          "cdna_start": null,
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          "cdna_length": 3986,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NRXN3",
          "gene_hgnc_id": 8010,
          "hgvs_c": "c.103-5732A>G",
          "hgvs_p": null,
          "transcript": "NM_004796.6",
          "protein_id": "NP_004787.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1061,
          "cds_start": -4,
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          "cds_length": 3186,
          "cdna_start": null,
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          "cdna_length": 10035,
          "mane_select": null,
          "mane_plus": null,
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        },
        {
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          "canonical": false,
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          ],
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          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NRXN3",
          "gene_hgnc_id": 8010,
          "hgvs_c": "c.-122-5012A>G",
          "hgvs_p": null,
          "transcript": "ENST00000557081.1",
          "protein_id": "ENSP00000450462.1",
          "transcript_support_level": 4,
          "aa_start": null,
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          "aa_length": 118,
          "cds_start": -4,
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          "cds_length": 359,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          "exon_count": 3,
          "intron_rank": 2,
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          "gene_symbol": "NRXN3",
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          "hgvs_c": "c.-66-5732A>G",
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          "transcript": "ENST00000553631.1",
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          "intron_rank": 6,
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          "gene_symbol": "NRXN3",
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          "gene_symbol": "NRXN3",
          "gene_hgnc_id": 8010,
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        {
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          "gene_symbol": "NRXN3",
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          "gene_symbol": "NRXN3",
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        {
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          ],
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          "intron_rank_end": null,
          "gene_symbol": "NRXN3",
          "gene_hgnc_id": 8010,
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          "transcript": "XM_047431939.1",
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            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRXN3-AS2",
          "gene_hgnc_id": 58461,
          "hgvs_c": "n.*130T>C",
          "hgvs_p": null,
          "transcript": "NR_188166.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 380,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "NRXN3",
      "gene_hgnc_id": 8010,
      "dbsnp": "rs12880418",
      "frequency_reference_population": 0.5318103,
      "hom_count_reference_population": 25231,
      "allele_count_reference_population": 80916,
      "gnomad_exomes_af": 0,
      "gnomad_genomes_af": 0.53181,
      "gnomad_exomes_ac": 0,
      "gnomad_genomes_ac": 80916,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 25231,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8100000023841858,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.81,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.651,
      "phylop100way_prediction": "Benign",
      "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": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000335750.7",
          "gene_symbol": "NRXN3",
          "hgnc_id": 8010,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1222-5732A>G",
          "hgvs_p": null
        },
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NR_188165.1",
          "gene_symbol": "NRXN3-AS2",
          "hgnc_id": 58461,
          "effects": [
            "downstream_gene_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.*130T>C",
          "hgvs_p": null
        },
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000838196.1",
          "gene_symbol": "ENSG00000258874",
          "hgnc_id": 58461,
          "effects": [
            "downstream_gene_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.*123T>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}