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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: 12-101651385-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=101651385&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 101651385,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000361466.7",
      "consequences": [
        {
          "aa_ref": "H",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYBPC1",
          "gene_hgnc_id": 7549,
          "hgvs_c": "c.1518C>G",
          "hgvs_p": "p.His506Gln",
          "transcript": "NM_002465.4",
          "protein_id": "NP_002456.2",
          "transcript_support_level": null,
          "aa_start": 506,
          "aa_end": null,
          "aa_length": 1171,
          "cds_start": 1518,
          "cds_end": null,
          "cds_length": 3516,
          "cdna_start": 1618,
          "cdna_end": null,
          "cdna_length": 4082,
          "mane_select": "ENST00000361466.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "Q",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYBPC1",
          "gene_hgnc_id": 7549,
          "hgvs_c": "c.1518C>G",
          "hgvs_p": "p.His506Gln",
          "transcript": "ENST00000361466.7",
          "protein_id": "ENSP00000354849.2",
          "transcript_support_level": 1,
          "aa_start": 506,
          "aa_end": null,
          "aa_length": 1171,
          "cds_start": 1518,
          "cds_end": null,
          "cds_length": 3516,
          "cdna_start": 1618,
          "cdna_end": null,
          "cdna_length": 4082,
          "mane_select": "NM_002465.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYBPC1",
          "gene_hgnc_id": 7549,
          "hgvs_c": "c.1518C>G",
          "hgvs_p": "p.His506Gln",
          "transcript": "ENST00000361685.6",
          "protein_id": "ENSP00000354845.2",
          "transcript_support_level": 1,
          "aa_start": 506,
          "aa_end": null,
          "aa_length": 1148,
          "cds_start": 1518,
          "cds_end": null,
          "cds_length": 3447,
          "cdna_start": 1618,
          "cdna_end": null,
          "cdna_length": 3871,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYBPC1",
          "gene_hgnc_id": 7549,
          "hgvs_c": "c.1443C>G",
          "hgvs_p": "p.His481Gln",
          "transcript": "ENST00000545503.6",
          "protein_id": "ENSP00000440034.2",
          "transcript_support_level": 1,
          "aa_start": 481,
          "aa_end": null,
          "aa_length": 1146,
          "cds_start": 1443,
          "cds_end": null,
          "cds_length": 3441,
          "cdna_start": 1518,
          "cdna_end": null,
          "cdna_length": 3569,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYBPC1",
          "gene_hgnc_id": 7549,
          "hgvs_c": "c.1407C>G",
          "hgvs_p": "p.His469Gln",
          "transcript": "ENST00000541119.5",
          "protein_id": "ENSP00000442847.1",
          "transcript_support_level": 1,
          "aa_start": 469,
          "aa_end": null,
          "aa_length": 1134,
          "cds_start": 1407,
          "cds_end": null,
          "cds_length": 3405,
          "cdna_start": 1482,
          "cdna_end": null,
          "cdna_length": 3533,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYBPC1",
          "gene_hgnc_id": 7549,
          "hgvs_c": "c.1386C>G",
          "hgvs_p": "p.His462Gln",
          "transcript": "ENST00000536007.5",
          "protein_id": "ENSP00000446128.1",
          "transcript_support_level": 1,
          "aa_start": 462,
          "aa_end": null,
          "aa_length": 1127,
          "cds_start": 1386,
          "cds_end": null,
          "cds_length": 3384,
          "cdna_start": 1461,
          "cdna_end": null,
          "cdna_length": 3512,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYBPC1",
          "gene_hgnc_id": 7549,
          "hgvs_c": "c.1443C>G",
          "hgvs_p": "p.His481Gln",
          "transcript": "ENST00000553190.5",
          "protein_id": "ENSP00000447900.1",
          "transcript_support_level": 1,
          "aa_start": 481,
          "aa_end": null,
          "aa_length": 1123,
          "cds_start": 1443,
          "cds_end": null,
          "cds_length": 3372,
          "cdna_start": 1530,
          "cdna_end": null,
          "cdna_length": 3777,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYBPC1",
          "gene_hgnc_id": 7549,
          "hgvs_c": "c.1365C>G",
          "hgvs_p": "p.His455Gln",
          "transcript": "ENST00000547405.5",
          "protein_id": "ENSP00000448175.1",
          "transcript_support_level": 1,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 1120,
          "cds_start": 1365,
          "cds_end": null,
          "cds_length": 3363,
          "cdna_start": 1587,
          "cdna_end": null,
          "cdna_length": 3834,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "Q",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYBPC1",
          "gene_hgnc_id": 7549,
          "hgvs_c": "c.1146C>G",
          "hgvs_p": "p.His382Gln",
          "transcript": "ENST00000551300.5",
          "protein_id": "ENSP00000447116.1",
          "transcript_support_level": 1,
          "aa_start": 382,
          "aa_end": null,
          "aa_length": 1024,
          "cds_start": 1146,
          "cds_end": null,
          "cds_length": 3075,
          "cdna_start": 1688,
          "cdna_end": null,
          "cdna_length": 3934,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYBPC1",
          "gene_hgnc_id": 7549,
          "hgvs_c": "c.1518C>G",
          "hgvs_p": "p.His506Gln",
          "transcript": "NM_001404675.1",
          "protein_id": "NP_001391604.1",
          "transcript_support_level": null,
          "aa_start": 506,
          "aa_end": null,
          "aa_length": 1177,
          "cds_start": 1518,
          "cds_end": null,
          "cds_length": 3534,
          "cdna_start": 1618,
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          "mane_select": null,
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        },
        {
          "aa_ref": "H",
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          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
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          "exon_count": 30,
          "intron_rank": null,
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          "gene_symbol": "MYBPC1",
          "gene_hgnc_id": 7549,
          "hgvs_c": "c.1443C>G",
          "hgvs_p": "p.His481Gln",
          "transcript": "NM_001254718.3",
          "protein_id": "NP_001241647.1",
          "transcript_support_level": null,
          "aa_start": 481,
          "aa_end": null,
          "aa_length": 1173,
          "cds_start": 1443,
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          "cds_length": 3522,
          "cdna_start": 1543,
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          "cdna_length": 3860,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
          "aa_ref": "H",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
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          "gene_symbol": "MYBPC1",
          "gene_hgnc_id": 7549,
          "hgvs_c": "c.1443C>G",
          "hgvs_p": "p.His481Gln",
          "transcript": "ENST00000452455.6",
          "protein_id": "ENSP00000400908.2",
          "transcript_support_level": 2,
          "aa_start": 481,
          "aa_end": null,
          "aa_length": 1173,
          "cds_start": 1443,
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          "cdna_start": 1545,
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          "mane_select": null,
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        },
        {
          "aa_ref": "H",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYBPC1",
          "gene_hgnc_id": 7549,
          "hgvs_c": "c.1482C>G",
          "hgvs_p": "p.His494Gln",
          "transcript": "ENST00000549145.5",
          "protein_id": "ENSP00000447660.1",
          "transcript_support_level": 5,
          "aa_start": 494,
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        {
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          "strand": true,
          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MYBPC1",
          "gene_hgnc_id": 7549,
          "hgvs_c": "c.1518C>G",
          "hgvs_p": "p.His506Gln",
          "transcript": "NM_206819.4",
          "protein_id": "NP_996555.1",
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          "cds_start": 1518,
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        },
        {
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          ],
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          "gene_symbol": "MYBPC1",
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          "hgvs_c": "c.1443C>G",
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          "transcript": "NM_001254719.3",
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        {
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          "strand": true,
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          "exon_count": 30,
          "intron_rank": null,
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          "gene_symbol": "MYBPC1",
          "gene_hgnc_id": 7549,
          "hgvs_c": "c.1443C>G",
          "hgvs_p": "p.His481Gln",
          "transcript": "NM_206820.4",
          "protein_id": "NP_996556.1",
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        },
        {
          "aa_ref": "H",
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          ],
          "exon_rank": 14,
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          "intron_rank": null,
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          "gene_symbol": "MYBPC1",
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          "hgvs_c": "c.1443C>G",
          "hgvs_p": "p.His481Gln",
          "transcript": "ENST00000550270.1",
          "protein_id": "ENSP00000449702.1",
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          "aa_start": 481,
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        {
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          "intron_rank": null,
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          "gene_symbol": "MYBPC1",
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          "transcript": "NM_001254723.3",
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        },
        {
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          "gene_symbol": "MYBPC1",
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        {
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          "exon_count": 29,
          "intron_rank": null,
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          "gene_symbol": "MYBPC1",
          "gene_hgnc_id": 7549,
          "hgvs_c": "c.1407C>G",
          "hgvs_p": "p.His469Gln",
          "transcript": "NM_001254720.3",
          "protein_id": "NP_001241649.1",
          "transcript_support_level": null,
          "aa_start": 469,
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          "cds_start": 1407,
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          "cdna_length": 3813,
          "mane_select": null,
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        },
        {
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          ],
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      ],
      "gene_symbol": "MYBPC1",
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      "frequency_reference_population": 0.15702711,
      "hom_count_reference_population": 20958,
      "allele_count_reference_population": 253389,
      "gnomad_exomes_af": 0.157931,
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      "gnomad_genomes_homalt": 1815,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.0017406046390533447,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.274,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1871,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.34,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 2.452,
      "phylop100way_prediction": "Benign",
      "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": -20,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -20,
          "benign_score": 20,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000361466.7",
          "gene_symbol": "MYBPC1",
          "hgnc_id": 7549,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.1518C>G",
          "hgvs_p": "p.His506Gln"
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        {
          "score": -20,
          "benign_score": 20,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000547027.1",
          "gene_symbol": "ENSG00000257514",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.258-4357G>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": " congenital, distal, type 1B, with tremor,Arthrogryposis,Lethal congenital contracture syndrome 4,Myopathy,not provided,not specified",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:8",
      "phenotype_combined": "not specified|Arthrogryposis, distal, type 1B|Lethal congenital contracture syndrome 4|Myopathy, congenital, with tremor|not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}