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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: 16-58487860-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=58487860&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 58487860,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_001378332.1",
      "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": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.132+10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000394282.8",
          "protein_id": "ENSP00000377823.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 391,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1176,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000394282.8"
        },
        {
          "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": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.72+10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000258187.9",
          "protein_id": "ENSP00000258187.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 371,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1116,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000258187.9"
        },
        {
          "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": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.132+10A>G",
          "hgvs_p": null,
          "transcript": "NM_001378332.1",
          "protein_id": "NP_001365261.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 434,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1305,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001378332.1"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.132+10A>G",
          "hgvs_p": null,
          "transcript": "NM_001378333.1",
          "protein_id": "NP_001365262.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1269,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001378333.1"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.132+10A>G",
          "hgvs_p": null,
          "transcript": "NM_001378334.1",
          "protein_id": "NP_001365263.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 421,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1266,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001378334.1"
        },
        {
          "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": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.132+10A>G",
          "hgvs_p": null,
          "transcript": "NM_001378335.1",
          "protein_id": "NP_001365264.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 409,
          "cds_start": null,
          "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_001378335.1"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.132+10A>G",
          "hgvs_p": null,
          "transcript": "NM_001378336.1",
          "protein_id": "NP_001365265.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 404,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1215,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001378336.1"
        },
        {
          "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": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.111+10A>G",
          "hgvs_p": null,
          "transcript": "NM_001378337.1",
          "protein_id": "NP_001365266.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001378337.1"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.72+10A>G",
          "hgvs_p": null,
          "transcript": "NM_001378338.1",
          "protein_id": "NP_001365267.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001378338.1"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.72+10A>G",
          "hgvs_p": null,
          "transcript": "NM_001378339.1",
          "protein_id": "NP_001365268.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 401,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1206,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001378339.1"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.72+10A>G",
          "hgvs_p": null,
          "transcript": "NM_001378340.1",
          "protein_id": "NP_001365269.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 401,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1206,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001378340.1"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.111+10A>G",
          "hgvs_p": null,
          "transcript": "NM_001378341.1",
          "protein_id": "NP_001365270.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 397,
          "cds_start": null,
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          "cds_length": 1194,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 16,
          "intron_rank": 2,
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          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.132+10A>G",
          "hgvs_p": null,
          "transcript": "NM_001130487.2",
          "protein_id": "NP_001123959.1",
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          "aa_length": 391,
          "cds_start": null,
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          "cdna_start": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.72+10A>G",
          "hgvs_p": null,
          "transcript": "NM_001378342.1",
          "protein_id": "NP_001365271.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
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          "cds_start": null,
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          "cds_length": 1170,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.111+10A>G",
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          "transcript": "NM_001378343.1",
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          "cds_start": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 17,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.72+10A>G",
          "hgvs_p": null,
          "transcript": "NM_001378345.1",
          "protein_id": "NP_001365274.1",
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          "aa_start": null,
          "aa_end": null,
          "aa_length": 384,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          "intron_rank": 3,
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          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.72+10A>G",
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          "transcript": "NM_001378346.1",
          "protein_id": "NP_001365275.1",
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          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "intron_rank": 2,
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          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
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          "transcript": "NM_020465.4",
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        {
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          ],
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          "intron_rank": 2,
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          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.72+10A>G",
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          "protein_id": "NP_075061.1",
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_022910.4"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NDRG4",
          "gene_hgnc_id": 14466,
          "hgvs_c": "c.72+10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000394279.6",
          "protein_id": "ENSP00000377820.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 371,
          "cds_start": null,
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          "cds_length": 1116,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000394279.6"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 18,
          "intron_rank": 2,
          "intron_rank_end": null,
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      "clinvar_disease": "not provided",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:2",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
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  "message": null
}