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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: 7-44241784-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44241784&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 44241784,
      "ref": "C",
      "alt": "T",
      "effect": "splice_acceptor_variant,intron_variant",
      "transcript": "NM_001220.5",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2B",
          "gene_hgnc_id": 1461,
          "hgvs_c": "c.820-1G>A",
          "hgvs_p": null,
          "transcript": "NM_001220.5",
          "protein_id": "NP_001211.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 666,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2001,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000395749.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001220.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2B",
          "gene_hgnc_id": 1461,
          "hgvs_c": "c.820-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000395749.7",
          "protein_id": "ENSP00000379098.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 666,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2001,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001220.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000395749.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2B",
          "gene_hgnc_id": 1461,
          "hgvs_c": "c.820-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000440254.6",
          "protein_id": "ENSP00000397937.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 542,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1629,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000440254.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2B",
          "gene_hgnc_id": 1461,
          "hgvs_c": "c.820-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000395747.6",
          "protein_id": "ENSP00000379096.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000395747.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2B",
          "gene_hgnc_id": 1461,
          "hgvs_c": "c.820-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000258682.10",
          "protein_id": "ENSP00000258682.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 517,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1554,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000258682.10"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2B",
          "gene_hgnc_id": 1461,
          "hgvs_c": "c.820-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000358707.7",
          "protein_id": "ENSP00000351542.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 503,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1512,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000358707.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2B",
          "gene_hgnc_id": 1461,
          "hgvs_c": "c.820-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000347193.8",
          "protein_id": "ENSP00000326544.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 492,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1479,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000347193.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2B",
          "gene_hgnc_id": 1461,
          "hgvs_c": "c.820-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000353625.8",
          "protein_id": "ENSP00000326427.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 479,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1440,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000353625.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2B",
          "gene_hgnc_id": 1461,
          "hgvs_c": "c.820-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000346990.8",
          "protein_id": "ENSP00000326518.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 449,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1350,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000346990.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2B",
          "gene_hgnc_id": 1461,
          "hgvs_c": "c.820-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000943346.1",
          "protein_id": "ENSP00000613405.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 713,
          "cds_start": null,
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          "cdna_start": null,
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        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 10,
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          "gene_symbol": "CAMK2B",
          "gene_hgnc_id": 1461,
          "hgvs_c": "c.820-1G>A",
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          "transcript": "ENST00000943324.1",
          "protein_id": "ENSP00000613383.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 709,
          "cds_start": null,
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          "cdna_start": null,
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          "intron_rank": 10,
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          "gene_symbol": "CAMK2B",
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        {
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          ],
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        {
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          ],
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        {
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          "gene_symbol": "CAMK2B",
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        {
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        {
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          "biotype": "protein_coding",
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          "canonical": false,
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          "consequences": [
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            "intron_variant"
          ],
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          "exon_count": 24,
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          "gene_symbol": "CAMK2B",
          "gene_hgnc_id": 1461,
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          "transcript": "ENST00000943333.1",
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        {
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      ],
      "gene_symbol": "CAMK2B",
      "gene_hgnc_id": 1461,
      "dbsnp": "rs1554385305",
      "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": 0.10999999940395355,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.949999988079071,
      "splice_prediction_selected": "Pathogenic",
      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.11,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 7.741,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0.99,
      "spliceai_max_prediction": "Pathogenic",
      "dbscsnv_ada_score": 0.999973440375664,
      "dbscsnv_ada_prediction": "Pathogenic",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 5,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PVS1_Moderate,PM2,PP5",
      "acmg_by_gene": [
        {
          "score": 5,
          "benign_score": 0,
          "pathogenic_score": 5,
          "criteria": [
            "PVS1_Moderate",
            "PM2",
            "PP5"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001220.5",
          "gene_symbol": "CAMK2B",
          "hgnc_id": 1461,
          "effects": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.820-1G>A",
          "hgvs_p": null
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      ],
      "clinvar_disease": "Intellectual disability",
      "clinvar_classification": "Pathogenic",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "Intellectual disability",
      "pathogenicity_classification_combined": "Pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}