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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: 10-27862558-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27862558&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 27862558,
      "ref": "G",
      "alt": "T",
      "effect": "stop_gained",
      "transcript": "NM_018076.5",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2675C>A",
          "hgvs_p": "p.Ser892*",
          "transcript": "NM_018076.5",
          "protein_id": "NP_060546.2",
          "transcript_support_level": null,
          "aa_start": 892,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2675,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000305242.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_018076.5"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2675C>A",
          "hgvs_p": "p.Ser892*",
          "transcript": "ENST00000305242.10",
          "protein_id": "ENSP00000306410.5",
          "transcript_support_level": 1,
          "aa_start": 892,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2675,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_018076.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000305242.10"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2675C>A",
          "hgvs_p": "p.Ser892*",
          "transcript": "NM_001290020.2",
          "protein_id": "NP_001276949.1",
          "transcript_support_level": null,
          "aa_start": 892,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2675,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001290020.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2675C>A",
          "hgvs_p": "p.Ser892*",
          "transcript": "ENST00000673439.1",
          "protein_id": "ENSP00000500782.1",
          "transcript_support_level": null,
          "aa_start": 892,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2675,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000673439.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2675C>A",
          "hgvs_p": "p.Ser892*",
          "transcript": "ENST00000852623.1",
          "protein_id": "ENSP00000522682.1",
          "transcript_support_level": null,
          "aa_start": 892,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2675,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852623.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2675C>A",
          "hgvs_p": "p.Ser892*",
          "transcript": "ENST00000923084.1",
          "protein_id": "ENSP00000593143.1",
          "transcript_support_level": null,
          "aa_start": 892,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2675,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923084.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2558C>A",
          "hgvs_p": "p.Ser853*",
          "transcript": "ENST00000852625.1",
          "protein_id": "ENSP00000522684.1",
          "transcript_support_level": null,
          "aa_start": 853,
          "aa_end": null,
          "aa_length": 1005,
          "cds_start": 2558,
          "cds_end": null,
          "cds_length": 3018,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852625.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2465C>A",
          "hgvs_p": "p.Ser822*",
          "transcript": "ENST00000923083.1",
          "protein_id": "ENSP00000593142.1",
          "transcript_support_level": null,
          "aa_start": 822,
          "aa_end": null,
          "aa_length": 974,
          "cds_start": 2465,
          "cds_end": null,
          "cds_length": 2925,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923083.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2465C>A",
          "hgvs_p": "p.Ser822*",
          "transcript": "ENST00000923088.1",
          "protein_id": "ENSP00000593147.1",
          "transcript_support_level": null,
          "aa_start": 822,
          "aa_end": null,
          "aa_length": 974,
          "cds_start": 2465,
          "cds_end": null,
          "cds_length": 2925,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923088.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2318C>A",
          "hgvs_p": "p.Ser773*",
          "transcript": "ENST00000923087.1",
          "protein_id": "ENSP00000593146.1",
          "transcript_support_level": null,
          "aa_start": 773,
          "aa_end": null,
          "aa_length": 925,
          "cds_start": 2318,
          "cds_end": null,
          "cds_length": 2778,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923087.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2012C>A",
          "hgvs_p": "p.Ser671*",
          "transcript": "ENST00000923086.1",
          "protein_id": "ENSP00000593145.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 823,
          "cds_start": 2012,
          "cds_end": null,
          "cds_length": 2472,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923086.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.1751C>A",
          "hgvs_p": "p.Ser584*",
          "transcript": "NM_001312689.2",
          "protein_id": "NP_001299618.1",
          "transcript_support_level": null,
          "aa_start": 584,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": 1751,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001312689.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.1751C>A",
          "hgvs_p": "p.Ser584*",
          "transcript": "ENST00000672841.1",
          "protein_id": "ENSP00000499983.1",
          "transcript_support_level": null,
          "aa_start": 584,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": 1751,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000672841.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.1451C>A",
          "hgvs_p": "p.Ser484*",
          "transcript": "ENST00000923085.1",
          "protein_id": "ENSP00000593144.1",
          "transcript_support_level": null,
          "aa_start": 484,
          "aa_end": null,
          "aa_length": 636,
          "cds_start": 1451,
          "cds_end": null,
          "cds_length": 1911,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923085.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.1250C>A",
          "hgvs_p": "p.Ser417*",
          "transcript": "NM_001290021.2",
          "protein_id": "NP_001276950.1",
          "transcript_support_level": null,
          "aa_start": 417,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": 1250,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001290021.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.1250C>A",
          "hgvs_p": "p.Ser417*",
          "transcript": "ENST00000672877.1",
          "protein_id": "ENSP00000500120.1",
          "transcript_support_level": null,
          "aa_start": 417,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": 1250,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000672877.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2804C>A",
          "hgvs_p": "p.Ser935*",
          "transcript": "XM_024448049.2",
          "protein_id": "XP_024303817.1",
          "transcript_support_level": null,
          "aa_start": 935,
          "aa_end": null,
          "aa_length": 1107,
          "cds_start": 2804,
          "cds_end": null,
          "cds_length": 3324,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024448049.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2804C>A",
          "hgvs_p": "p.Ser935*",
          "transcript": "XM_024448050.2",
          "protein_id": "XP_024303818.1",
          "transcript_support_level": null,
          "aa_start": 935,
          "aa_end": null,
          "aa_length": 1107,
          "cds_start": 2804,
          "cds_end": null,
          "cds_length": 3324,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024448050.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2804C>A",
          "hgvs_p": "p.Ser935*",
          "transcript": "XM_024448051.2",
          "protein_id": "XP_024303819.1",
          "transcript_support_level": null,
          "aa_start": 935,
          "aa_end": null,
          "aa_length": 1107,
          "cds_start": 2804,
          "cds_end": null,
          "cds_length": 3324,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024448051.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2804C>A",
          "hgvs_p": "p.Ser935*",
          "transcript": "XM_024448052.2",
          "protein_id": "XP_024303820.1",
          "transcript_support_level": null,
          "aa_start": 935,
          "aa_end": null,
          "aa_length": 1107,
          "cds_start": 2804,
          "cds_end": null,
          "cds_length": 3324,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
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          "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": "ENST00000673384.1"
        }
      ],
      "gene_symbol": "ODAD2",
      "gene_hgnc_id": 25583,
      "dbsnp": "rs587777049",
      "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": 0.6600000262260437,
      "computational_prediction_selected": "Pathogenic",
      "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": 0.66,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 7.95,
      "phylop100way_prediction": "Pathogenic",
      "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": 18,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
      "acmg_by_gene": [
        {
          "score": 18,
          "benign_score": 0,
          "pathogenic_score": 18,
          "criteria": [
            "PVS1",
            "PM2",
            "PP5_Very_Strong"
          ],
          "verdict": "Pathogenic",
          "transcript": "NM_018076.5",
          "gene_symbol": "ODAD2",
          "hgnc_id": 25583,
          "effects": [
            "stop_gained"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.2675C>A",
          "hgvs_p": "p.Ser892*"
        }
      ],
      "clinvar_disease": "Primary ciliary dyskinesia 23",
      "clinvar_classification": "Pathogenic",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "P:2",
      "phenotype_combined": "Primary ciliary dyskinesia 23",
      "pathogenicity_classification_combined": "Pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}
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