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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: 12-63626530-T-TAAA (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=63626530&ref=T&alt=TAAA&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 63626530,
      "ref": "T",
      "alt": "TAAA",
      "effect": "splice_region_variant,intron_variant",
      "transcript": "NM_173812.5",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DPY19L2",
          "gene_hgnc_id": 19414,
          "hgvs_c": "c.804-7_804-5dupTTT",
          "hgvs_p": null,
          "transcript": "NM_173812.5",
          "protein_id": "NP_776173.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 758,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2277,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000324472.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_173812.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DPY19L2",
          "gene_hgnc_id": 19414,
          "hgvs_c": "c.804-5_804-4insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000324472.9",
          "protein_id": "ENSP00000315988.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 758,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2277,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_173812.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000324472.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "DPY19L2",
          "gene_hgnc_id": 19414,
          "hgvs_c": "n.*287-5_*287-4insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000306389.7",
          "protein_id": "ENSP00000445878.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000306389.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DPY19L2",
          "gene_hgnc_id": 19414,
          "hgvs_c": "c.804-5_804-4insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000882292.1",
          "protein_id": "ENSP00000552351.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 738,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2217,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882292.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DPY19L2",
          "gene_hgnc_id": 19414,
          "hgvs_c": "c.804-5_804-4insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000961037.1",
          "protein_id": "ENSP00000631096.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 734,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2205,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961037.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DPY19L2",
          "gene_hgnc_id": 19414,
          "hgvs_c": "c.804-5_804-4insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000882290.1",
          "protein_id": "ENSP00000552349.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 716,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2151,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882290.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DPY19L2",
          "gene_hgnc_id": 19414,
          "hgvs_c": "c.804-5_804-4insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000961030.1",
          "protein_id": "ENSP00000631089.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 714,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2145,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961030.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DPY19L2",
          "gene_hgnc_id": 19414,
          "hgvs_c": "c.804-5_804-4insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000882291.1",
          "protein_id": "ENSP00000552350.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 696,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2091,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882291.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DPY19L2",
          "gene_hgnc_id": 19414,
          "hgvs_c": "c.804-5_804-4insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000961035.1",
          "protein_id": "ENSP00000631094.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 692,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2079,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961035.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DPY19L2",
          "gene_hgnc_id": 19414,
          "hgvs_c": "c.804-5_804-4insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000882293.1",
          "protein_id": "ENSP00000552352.1",
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          "aa_start": null,
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          "aa_length": 690,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "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": 18,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DPY19L2",
          "gene_hgnc_id": 19414,
          "hgvs_c": "c.804-5194_804-5193insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000961032.1",
          "protein_id": "ENSP00000631091.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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            "intron_variant"
          ],
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          "exon_count": 18,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DPY19L2",
          "gene_hgnc_id": 19414,
          "hgvs_c": "c.804-5_804-4insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000961031.1",
          "protein_id": "ENSP00000631090.1",
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "strand": false,
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          ],
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          "intron_rank": 6,
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          "gene_symbol": "DPY19L2",
          "gene_hgnc_id": 19414,
          "hgvs_c": "c.804-5194_804-5193insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000961033.1",
          "protein_id": "ENSP00000631092.1",
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          "aa_length": 664,
          "cds_start": null,
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          "cds_length": 1995,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000961033.1"
        },
        {
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          "canonical": false,
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          "strand": false,
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          ],
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          "exon_count": 9,
          "intron_rank": 4,
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          "gene_symbol": "DPY19L2",
          "gene_hgnc_id": 19414,
          "hgvs_c": "c.588+34813_588+34814insTTT",
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        {
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          "intron_rank_end": null,
          "gene_symbol": "DPY19L2",
          "gene_hgnc_id": 19414,
          "hgvs_c": "c.588+34813_588+34814insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000961034.1",
          "protein_id": "ENSP00000631093.1",
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          "cds_start": null,
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          "cds_length": 1134,
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        {
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          ],
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          "exon_count": 21,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DPY19L2",
          "gene_hgnc_id": 19414,
          "hgvs_c": "c.804-7_804-5dupTTT",
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          "transcript": "XM_024448944.2",
          "protein_id": "XP_024304712.1",
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "intron_rank": 6,
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          "gene_symbol": "DPY19L2",
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        {
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          "exon_count": 21,
          "intron_rank": 6,
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          "hgvs_c": "c.804-7_804-5dupTTT",
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        {
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          "consequences": [
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          ],
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          "intron_rank_end": null,
          "gene_symbol": "DPY19L2",
          "gene_hgnc_id": 19414,
          "hgvs_c": "c.804-5196_804-5194dupTTT",
          "hgvs_p": null,
          "transcript": "XM_017019192.3",
          "protein_id": "XP_016874681.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 708,
          "cds_start": null,
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          "cds_length": 2127,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_017019192.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "DPY19L2",
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000509615.2"
        }
      ],
      "gene_symbol": "DPY19L2",
      "gene_hgnc_id": 19414,
      "dbsnp": "rs371578418",
      "frequency_reference_population": null,
      "hom_count_reference_population": null,
      "allele_count_reference_population": null,
      "gnomad_exomes_af": 0.0262837,
      "gnomad_genomes_af": 0.0239584,
      "gnomad_exomes_ac": 30985,
      "gnomad_genomes_ac": 3043,
      "gnomad_exomes_homalt": 242,
      "gnomad_genomes_homalt": 80,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": null,
      "computational_prediction_selected": null,
      "computational_source_selected": null,
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": null,
      "bayesdelnoaf_prediction": null,
      "phylop100way_score": 0.702,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 0,
          "pathogenic_score": 0,
          "criteria": [],
          "verdict": "Uncertain_significance",
          "transcript": "NM_173812.5",
          "gene_symbol": "DPY19L2",
          "hgnc_id": 19414,
          "effects": [
            "splice_region_variant",
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.804-7_804-5dupTTT",
          "hgvs_p": null
        },
        {
          "score": 0,
          "benign_score": 0,
          "pathogenic_score": 0,
          "criteria": [],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000509615.2",
          "gene_symbol": "ENSG00000249753",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.239-2707_239-2706insTTT",
          "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
}