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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: 6-87546374-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=87546374&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 87546374,
      "ref": "T",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000369536.10",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.452-675A>T",
          "hgvs_p": null,
          "transcript": "NM_020320.5",
          "protein_id": "NP_064716.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 578,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1737,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2242,
          "mane_select": "ENST00000369536.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.452-675A>T",
          "hgvs_p": null,
          "transcript": "ENST00000369536.10",
          "protein_id": "ENSP00000358549.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 578,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1737,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2242,
          "mane_select": "NM_020320.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.452-675A>T",
          "hgvs_p": null,
          "transcript": "ENST00000687437.1",
          "protein_id": "ENSP00000508968.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1885,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.452-675A>T",
          "hgvs_p": null,
          "transcript": "NM_001350505.2",
          "protein_id": "NP_001337434.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 588,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1767,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2123,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.452-675A>T",
          "hgvs_p": null,
          "transcript": "ENST00000691725.1",
          "protein_id": "ENSP00000509453.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 588,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1767,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2339,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.-74-675A>T",
          "hgvs_p": null,
          "transcript": "ENST00000451155.2",
          "protein_id": "ENSP00000389656.2",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2148,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.-74-675A>T",
          "hgvs_p": null,
          "transcript": "NM_001350506.2",
          "protein_id": "NP_001337435.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 413,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1242,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2344,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.-74-675A>T",
          "hgvs_p": null,
          "transcript": "ENST00000693431.1",
          "protein_id": "ENSP00000509147.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 413,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1242,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2361,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.-74-675A>T",
          "hgvs_p": null,
          "transcript": "NM_001318785.2",
          "protein_id": "NP_001305714.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 403,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2407,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.-74-675A>T",
          "hgvs_p": null,
          "transcript": "NM_001350507.2",
          "protein_id": "NP_001337436.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 403,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
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          "exon_count": 21,
          "intron_rank": 7,
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          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.-74-675A>T",
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          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "intron_rank": 4,
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          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.-74-675A>T",
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          "transcript": "NM_001350509.2",
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          "intron_rank": 6,
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          "gene_symbol": "RARS2",
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          "hgvs_c": "c.-74-675A>T",
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        {
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          "gene_symbol": "RARS2",
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          "hgvs_c": "c.-74-675A>T",
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        {
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          "gene_symbol": "RARS2",
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          "exon_count": 21,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.-535-675A>T",
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            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "RARS2",
          "gene_hgnc_id": 21406,
          "hgvs_c": "c.452-675A>T",
          "hgvs_p": null,
          "transcript": "XM_047419095.1",
          "protein_id": "XP_047275051.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1317,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "RARS2",
      "gene_hgnc_id": 21406,
      "dbsnp": "rs7757636",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8700000047683716,
      "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": -0.87,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.436,
      "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": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000369536.10",
          "gene_symbol": "RARS2",
          "hgnc_id": 21406,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.452-675A>T",
          "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
}