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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: 15-99665630-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=99665630&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 99665630,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_001400028.1",
      "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": 12,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.259-5693C>T",
          "hgvs_p": null,
          "transcript": "NM_001319206.4",
          "protein_id": "NP_001306135.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000557942.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001319206.4"
        },
        {
          "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": 12,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.259-5693C>T",
          "hgvs_p": null,
          "transcript": "ENST00000557942.6",
          "protein_id": "ENSP00000453095.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001319206.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000557942.6"
        },
        {
          "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": 11,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.259-5890C>T",
          "hgvs_p": null,
          "transcript": "ENST00000354410.9",
          "protein_id": "ENSP00000346389.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 499,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1500,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000354410.9"
        },
        {
          "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": 12,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.259-5693C>T",
          "hgvs_p": null,
          "transcript": "ENST00000947006.1",
          "protein_id": "ENSP00000617065.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 551,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1656,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947006.1"
        },
        {
          "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": 13,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.259-5693C>T",
          "hgvs_p": null,
          "transcript": "ENST00000947007.1",
          "protein_id": "ENSP00000617066.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 551,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1656,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947007.1"
        },
        {
          "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": 13,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.259-5693C>T",
          "hgvs_p": null,
          "transcript": "ENST00000947010.1",
          "protein_id": "ENSP00000617069.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 547,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1644,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947010.1"
        },
        {
          "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": 12,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.259-5693C>T",
          "hgvs_p": null,
          "transcript": "NM_001400028.1",
          "protein_id": "NP_001386957.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001400028.1"
        },
        {
          "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": 13,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.259-5890C>T",
          "hgvs_p": null,
          "transcript": "ENST00000946992.1",
          "protein_id": "ENSP00000617051.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000946992.1"
        },
        {
          "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": 12,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.295-5890C>T",
          "hgvs_p": null,
          "transcript": "ENST00000947011.1",
          "protein_id": "ENSP00000617070.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947011.1"
        },
        {
          "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": 14,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.295-5890C>T",
          "hgvs_p": null,
          "transcript": "ENST00000947023.1",
          "protein_id": "ENSP00000617082.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": null,
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          "cdna_start": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          "exon_count": 12,
          "intron_rank": 4,
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          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.259-5890C>T",
          "hgvs_p": null,
          "transcript": "NM_001365201.3",
          "protein_id": "NP_001352130.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 511,
          "cds_start": null,
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          "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,
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          "consequences": [
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          ],
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          "gene_symbol": "MEF2A",
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          "aa_length": 511,
          "cds_start": null,
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        {
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          "gene_symbol": "MEF2A",
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          "hgvs_c": "c.259-5890C>T",
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          "transcript": "ENST00000338042.11",
          "protein_id": "ENSP00000337202.8",
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        {
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          "intron_rank": 3,
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          "gene_symbol": "MEF2A",
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          "transcript": "ENST00000690055.1",
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        {
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        {
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          "intron_rank": 5,
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          "gene_symbol": "MEF2A",
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          "transcript": "ENST00000889144.1",
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          "intron_rank": 3,
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          "gene_symbol": "MEF2A",
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          "hgvs_c": "c.259-5890C>T",
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          "transcript": "ENST00000946979.1",
          "protein_id": "ENSP00000617038.1",
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        {
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        {
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          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.259-5890C>T",
          "hgvs_p": null,
          "transcript": "NM_001400029.1",
          "protein_id": "NP_001386958.1",
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          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "NM_001400029.1"
        },
        {
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          "consequences": [
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          "cds_length": 1320,
          "cdna_start": null,
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          "mane_select": null,
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          "feature": "XM_047432532.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
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          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "n.608-5693C>T",
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          "transcript": "ENST00000558983.5",
          "protein_id": null,
          "transcript_support_level": 3,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000558983.5"
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      ],
      "gene_symbol": "MEF2A",
      "gene_hgnc_id": 6993,
      "dbsnp": "rs11247120",
      "frequency_reference_population": 0.42128697,
      "hom_count_reference_population": 14781,
      "allele_count_reference_population": 62733,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.421287,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 62733,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 14781,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8899999856948853,
      "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": -0.89,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.145,
      "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": "NM_001400028.1",
          "gene_symbol": "MEF2A",
          "hgnc_id": 6993,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.259-5693C>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
}