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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: 2-178584392-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178584392&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 178584392,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000589042.5",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 311,
          "exon_rank_end": null,
          "exon_count": 363,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.65159C>T",
          "hgvs_p": "p.Pro21720Leu",
          "transcript": "NM_001267550.2",
          "protein_id": "NP_001254479.2",
          "transcript_support_level": null,
          "aa_start": 21720,
          "aa_end": null,
          "aa_length": 35991,
          "cds_start": 65159,
          "cds_end": null,
          "cds_length": 107976,
          "cdna_start": 65384,
          "cdna_end": null,
          "cdna_length": 109224,
          "mane_select": "ENST00000589042.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 311,
          "exon_rank_end": null,
          "exon_count": 363,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.65159C>T",
          "hgvs_p": "p.Pro21720Leu",
          "transcript": "ENST00000589042.5",
          "protein_id": "ENSP00000467141.1",
          "transcript_support_level": 5,
          "aa_start": 21720,
          "aa_end": null,
          "aa_length": 35991,
          "cds_start": 65159,
          "cds_end": null,
          "cds_length": 107976,
          "cdna_start": 65384,
          "cdna_end": null,
          "cdna_length": 109224,
          "mane_select": "NM_001267550.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 309,
          "exon_rank_end": null,
          "exon_count": 361,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.65003C>T",
          "hgvs_p": "p.Pro21668Leu",
          "transcript": "ENST00000446966.2",
          "protein_id": "ENSP00000408004.2",
          "transcript_support_level": 1,
          "aa_start": 21668,
          "aa_end": null,
          "aa_length": 35939,
          "cds_start": 65003,
          "cds_end": null,
          "cds_length": 107820,
          "cdna_start": 65228,
          "cdna_end": null,
          "cdna_length": 109068,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 309,
          "exon_rank_end": null,
          "exon_count": 361,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.64883C>T",
          "hgvs_p": "p.Pro21628Leu",
          "transcript": "ENST00000436599.2",
          "protein_id": "ENSP00000405517.2",
          "transcript_support_level": 1,
          "aa_start": 21628,
          "aa_end": null,
          "aa_length": 35899,
          "cds_start": 64883,
          "cds_end": null,
          "cds_length": 107700,
          "cdna_start": 65108,
          "cdna_end": null,
          "cdna_length": 108948,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 304,
          "exon_rank_end": null,
          "exon_count": 356,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.64601C>T",
          "hgvs_p": "p.Pro21534Leu",
          "transcript": "ENST00000426232.6",
          "protein_id": "ENSP00000392336.2",
          "transcript_support_level": 1,
          "aa_start": 21534,
          "aa_end": null,
          "aa_length": 35805,
          "cds_start": 64601,
          "cds_end": null,
          "cds_length": 107418,
          "cdna_start": 64826,
          "cdna_end": null,
          "cdna_length": 108666,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "TTN-AS1",
          "gene_hgnc_id": 44124,
          "hgvs_c": "n.2768-181G>A",
          "hgvs_p": null,
          "transcript": "ENST00000419746.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 4592,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 313,
          "exon_rank_end": null,
          "exon_count": 365,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.65159C>T",
          "hgvs_p": "p.Pro21720Leu",
          "transcript": "ENST00000412264.2",
          "protein_id": "ENSP00000394672.2",
          "transcript_support_level": 3,
          "aa_start": 21720,
          "aa_end": null,
          "aa_length": 35991,
          "cds_start": 65159,
          "cds_end": null,
          "cds_length": 107976,
          "cdna_start": 65648,
          "cdna_end": null,
          "cdna_length": 109488,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 310,
          "exon_rank_end": null,
          "exon_count": 362,
          "intron_rank": null,
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          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.65075C>T",
          "hgvs_p": "p.Pro21692Leu",
          "transcript": "ENST00000425332.3",
          "protein_id": "ENSP00000396805.3",
          "transcript_support_level": 5,
          "aa_start": 21692,
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          "aa_length": 35963,
          "cds_start": 65075,
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          "cds_length": 107892,
          "cdna_start": 65300,
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          "cdna_length": 109140,
          "mane_select": null,
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        },
        {
          "aa_ref": "P",
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          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 308,
          "exon_rank_end": null,
          "exon_count": 360,
          "intron_rank": null,
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          "gene_symbol": "TTN",
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          "hgvs_c": "c.64745C>T",
          "hgvs_p": "p.Pro21582Leu",
          "transcript": "ENST00000715174.1",
          "protein_id": "ENSP00000520370.1",
          "transcript_support_level": null,
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        {
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          "hgvs_c": "c.60236C>T",
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          "aa_length": null,
          "cds_start": -4,
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          "cdna_length": 2069,
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        },
        {
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          ],
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          "exon_count": 17,
          "intron_rank": 10,
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          "gene_symbol": "TTN-AS1",
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          "hgvs_c": "n.2768-181G>A",
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          "transcript": "NR_038272.1",
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          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 4592,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 3,
          "intron_rank": null,
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          "gene_symbol": "TTN-AS1",
          "gene_hgnc_id": 44124,
          "hgvs_c": "n.-182G>A",
          "hgvs_p": null,
          "transcript": "ENST00000589907.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 568,
          "mane_select": null,
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        },
        {
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          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 3,
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          "gene_symbol": "TTN-AS1",
          "gene_hgnc_id": 44124,
          "hgvs_c": "n.-181G>A",
          "hgvs_p": null,
          "transcript": "ENST00000590743.1",
          "protein_id": null,
          "transcript_support_level": 5,
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          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 812,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "TTN",
      "gene_hgnc_id": 12403,
      "dbsnp": "rs878854325",
      "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": 0.38148483633995056,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.424,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.2931,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.24,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 9.94,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0.01,
      "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": 1,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4",
      "acmg_by_gene": [
        {
          "score": 1,
          "benign_score": 1,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000589042.5",
          "gene_symbol": "TTN",
          "hgnc_id": 12403,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.65159C>T",
          "hgvs_p": "p.Pro21720Leu"
        },
        {
          "score": 1,
          "benign_score": 1,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000419746.5",
          "gene_symbol": "TTN-AS1",
          "hgnc_id": 44124,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.2768-181G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2J,Dilated cardiomyopathy 1G",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}