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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: 2-240725384-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240725384&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 240725384,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "ENST00000498729.9",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF1A",
          "gene_hgnc_id": 888,
          "hgvs_c": "c.4143G>A",
          "hgvs_p": "p.Pro1381Pro",
          "transcript": "NM_001244008.2",
          "protein_id": "NP_001230937.1",
          "transcript_support_level": null,
          "aa_start": 1381,
          "aa_end": null,
          "aa_length": 1791,
          "cds_start": 4143,
          "cds_end": null,
          "cds_length": 5376,
          "cdna_start": 4301,
          "cdna_end": null,
          "cdna_length": 9131,
          "mane_select": "ENST00000498729.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF1A",
          "gene_hgnc_id": 888,
          "hgvs_c": "c.4143G>A",
          "hgvs_p": "p.Pro1381Pro",
          "transcript": "ENST00000498729.9",
          "protein_id": "ENSP00000438388.1",
          "transcript_support_level": 5,
          "aa_start": 1381,
          "aa_end": null,
          "aa_length": 1791,
          "cds_start": 4143,
          "cds_end": null,
          "cds_length": 5376,
          "cdna_start": 4301,
          "cdna_end": null,
          "cdna_length": 9131,
          "mane_select": "NM_001244008.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF1A",
          "gene_hgnc_id": 888,
          "hgvs_c": "n.2726G>A",
          "hgvs_p": null,
          "transcript": "ENST00000492812.6",
          "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,
          "cdna_end": null,
          "cdna_length": 7507,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF1A",
          "gene_hgnc_id": 888,
          "hgvs_c": "c.4143G>A",
          "hgvs_p": "p.Pro1381Pro",
          "transcript": "ENST00000675932.2",
          "protein_id": "ENSP00000502786.2",
          "transcript_support_level": null,
          "aa_start": 1381,
          "aa_end": null,
          "aa_length": 1894,
          "cds_start": 4143,
          "cds_end": null,
          "cds_length": 5685,
          "cdna_start": 4301,
          "cdna_end": null,
          "cdna_length": 9151,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 50,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF1A",
          "gene_hgnc_id": 888,
          "hgvs_c": "c.4272G>A",
          "hgvs_p": "p.Pro1424Pro",
          "transcript": "ENST00000675314.2",
          "protein_id": "ENSP00000502584.2",
          "transcript_support_level": null,
          "aa_start": 1424,
          "aa_end": null,
          "aa_length": 1834,
          "cds_start": 4272,
          "cds_end": null,
          "cds_length": 5505,
          "cdna_start": 4430,
          "cdna_end": null,
          "cdna_length": 9260,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 50,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF1A",
          "gene_hgnc_id": 888,
          "hgvs_c": "c.4269G>A",
          "hgvs_p": "p.Pro1423Pro",
          "transcript": "ENST00000674607.2",
          "protein_id": "ENSP00000501825.2",
          "transcript_support_level": null,
          "aa_start": 1423,
          "aa_end": null,
          "aa_length": 1833,
          "cds_start": 4269,
          "cds_end": null,
          "cds_length": 5502,
          "cdna_start": 4427,
          "cdna_end": null,
          "cdna_length": 9257,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 51,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF1A",
          "gene_hgnc_id": 888,
          "hgvs_c": "c.4245G>A",
          "hgvs_p": "p.Pro1415Pro",
          "transcript": "ENST00000448728.2",
          "protein_id": "ENSP00000398686.2",
          "transcript_support_level": 5,
          "aa_start": 1415,
          "aa_end": null,
          "aa_length": 1825,
          "cds_start": 4245,
          "cds_end": null,
          "cds_length": 5478,
          "cdna_start": 4715,
          "cdna_end": null,
          "cdna_length": 9545,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF1A",
          "gene_hgnc_id": 888,
          "hgvs_c": "c.4218G>A",
          "hgvs_p": "p.Pro1406Pro",
          "transcript": "NM_001379631.1",
          "protein_id": "NP_001366560.1",
          "transcript_support_level": null,
          "aa_start": 1406,
          "aa_end": null,
          "aa_length": 1816,
          "cds_start": 4218,
          "cds_end": null,
          "cds_length": 5451,
          "cdna_start": 4376,
          "cdna_end": null,
          "cdna_length": 9206,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF1A",
          "gene_hgnc_id": 888,
          "hgvs_c": "c.4194G>A",
          "hgvs_p": "p.Pro1398Pro",
          "transcript": "ENST00000675126.2",
          "protein_id": "ENSP00000501874.2",
          "transcript_support_level": null,
          "aa_start": 1398,
          "aa_end": null,
          "aa_length": 1808,
          "cds_start": 4194,
          "cds_end": null,
          "cds_length": 5427,
          "cdna_start": 4348,
          "cdna_end": null,
          "cdna_length": 9177,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF1A",
          "gene_hgnc_id": 888,
          "hgvs_c": "c.4179G>A",
          "hgvs_p": "p.Pro1393Pro",
          "transcript": "ENST00000674975.2",
          "protein_id": "ENSP00000502241.2",
          "transcript_support_level": null,
          "aa_start": 1393,
          "aa_end": null,
          "aa_length": 1803,
          "cds_start": 4179,
          "cds_end": null,
          "cds_length": 5412,
          "cdna_start": 4337,
          "cdna_end": null,
          "cdna_length": 9167,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 50,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF1A",
          "gene_hgnc_id": 888,
          "hgvs_c": "c.4167G>A",
          "hgvs_p": "p.Pro1389Pro",
          "transcript": "ENST00000404283.9",
          "protein_id": "ENSP00000384231.5",
          "transcript_support_level": 5,
          "aa_start": 1389,
          "aa_end": null,
          "aa_length": 1799,
          "cds_start": 4167,
          "cds_end": null,
          "cds_length": 5400,
          "cdna_start": 4414,
          "cdna_end": null,
          "cdna_length": 5647,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF1A",
          "gene_hgnc_id": 888,
          "hgvs_c": "c.4143G>A",
          "hgvs_p": "p.Pro1381Pro",
          "transcript": "ENST00000676050.2",
          "protein_id": "ENSP00000501938.2",
          "transcript_support_level": null,
          "aa_start": 1381,
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          "aa_length": 1796,
          "cds_start": 4143,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 40,
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          "intron_rank": null,
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          "gene_symbol": "KIF1A",
          "gene_hgnc_id": 888,
          "hgvs_c": "c.4143G>A",
          "hgvs_p": "p.Pro1381Pro",
          "transcript": "NM_001379642.1",
          "protein_id": "NP_001366571.1",
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          "aa_start": 1381,
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          "cds_start": 4143,
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          "cdna_start": 4301,
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        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF1A",
          "gene_hgnc_id": 888,
          "hgvs_c": "c.4143G>A",
          "hgvs_p": "p.Pro1381Pro",
          "transcript": "ENST00000647572.2",
          "protein_id": "ENSP00000497953.2",
          "transcript_support_level": null,
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          "cds_start": 4143,
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          "mane_select": null,
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        },
        {
          "aa_ref": "P",
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          ],
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          "gene_symbol": "KIF1A",
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          "hgvs_c": "c.4143G>A",
          "hgvs_p": "p.Pro1381Pro",
          "transcript": "ENST00000674664.2",
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          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
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          "gene_symbol": "KIF1A",
          "gene_hgnc_id": 888,
          "hgvs_c": "c.4143G>A",
          "hgvs_p": "p.Pro1381Pro",
          "transcript": "ENST00000674907.2",
          "protein_id": "ENSP00000502048.2",
          "transcript_support_level": null,
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          "cds_start": 4143,
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        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
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          "gene_symbol": "KIF1A",
          "gene_hgnc_id": 888,
          "hgvs_c": "c.4143G>A",
          "hgvs_p": "p.Pro1381Pro",
          "transcript": "ENST00000675152.2",
          "protein_id": "ENSP00000501849.2",
          "transcript_support_level": null,
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        },
        {
          "aa_ref": "P",
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          "strand": false,
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          "intron_rank": null,
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          "gene_symbol": "KIF1A",
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          "hgvs_c": "c.4143G>A",
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        },
        {
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          "strand": false,
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          ],
          "exon_rank": 40,
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          "gene_symbol": "KIF1A",
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          "hgvs_c": "c.4119G>A",
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          "transcript": "NM_001379632.1",
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        },
        {
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          "consequences": [
            "synonymous_variant"
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          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF1A",
          "gene_hgnc_id": 888,
          "hgvs_c": "c.4116G>A",
          "hgvs_p": "p.Pro1372Pro",
          "transcript": "NM_001379633.1",
          "protein_id": "NP_001366562.1",
          "transcript_support_level": null,
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          "cdna_start": 4274,
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          "cdna_length": 9104,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 39,
          "exon_rank_end": null,
          "exon_count": 48,
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      "gene_symbol": "KIF1A",
      "gene_hgnc_id": 888,
      "dbsnp": "rs2241683",
      "frequency_reference_population": 0.015793901,
      "hom_count_reference_population": 3093,
      "allele_count_reference_population": 25464,
      "gnomad_exomes_af": 0.0148228,
      "gnomad_genomes_af": 0.0251041,
      "gnomad_exomes_ac": 21641,
      "gnomad_genomes_ac": 3823,
      "gnomad_exomes_homalt": 2717,
      "gnomad_genomes_homalt": 376,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.05299999937415123,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.053,
      "revel_prediction": "Benign",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.68,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -5.136,
      "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": -19,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
      "acmg_by_gene": [
        {
          "score": -19,
          "benign_score": 19,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6_Very_Strong",
            "BP7",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000498729.9",
          "gene_symbol": "KIF1A",
          "hgnc_id": 888,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.4143G>A",
          "hgvs_p": "p.Pro1381Pro"
        }
      ],
      "clinvar_disease": " autosomal dominant 9, hereditary sensory, type 2C,Hereditary spastic paraplegia,Hereditary spastic paraplegia 30,Inborn genetic diseases,Intellectual disability,Neuropathy,not provided,not specified",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:7",
      "phenotype_combined": "not specified|Hereditary spastic paraplegia 30|Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30|Hereditary spastic paraplegia|Inborn genetic diseases|not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}