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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: 6-43037697-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43037697&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 43037697,
      "ref": "G",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "NM_014780.5",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CUL7",
          "gene_hgnc_id": 21024,
          "hgvs_c": "c.5088C>G",
          "hgvs_p": "p.Thr1696Thr",
          "transcript": "NM_014780.5",
          "protein_id": "NP_055595.2",
          "transcript_support_level": null,
          "aa_start": 1696,
          "aa_end": null,
          "aa_length": 1698,
          "cds_start": 5088,
          "cds_end": null,
          "cds_length": 5097,
          "cdna_start": 5326,
          "cdna_end": null,
          "cdna_length": 5406,
          "mane_select": "ENST00000265348.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CUL7",
          "gene_hgnc_id": 21024,
          "hgvs_c": "c.5088C>G",
          "hgvs_p": "p.Thr1696Thr",
          "transcript": "ENST00000265348.9",
          "protein_id": "ENSP00000265348.4",
          "transcript_support_level": 1,
          "aa_start": 1696,
          "aa_end": null,
          "aa_length": 1698,
          "cds_start": 5088,
          "cds_end": null,
          "cds_length": 5097,
          "cdna_start": 5326,
          "cdna_end": null,
          "cdna_length": 5406,
          "mane_select": "NM_014780.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CUL7",
          "gene_hgnc_id": 21024,
          "hgvs_c": "c.5184C>G",
          "hgvs_p": "p.Thr1728Thr",
          "transcript": "NM_001168370.2",
          "protein_id": "NP_001161842.2",
          "transcript_support_level": null,
          "aa_start": 1728,
          "aa_end": null,
          "aa_length": 1730,
          "cds_start": 5184,
          "cds_end": null,
          "cds_length": 5193,
          "cdna_start": 5333,
          "cdna_end": null,
          "cdna_length": 5413,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CUL7",
          "gene_hgnc_id": 21024,
          "hgvs_c": "c.5184C>G",
          "hgvs_p": "p.Thr1728Thr",
          "transcript": "NM_001374872.1",
          "protein_id": "NP_001361801.1",
          "transcript_support_level": null,
          "aa_start": 1728,
          "aa_end": null,
          "aa_length": 1730,
          "cds_start": 5184,
          "cds_end": null,
          "cds_length": 5193,
          "cdna_start": 5422,
          "cdna_end": null,
          "cdna_length": 5502,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CUL7",
          "gene_hgnc_id": 21024,
          "hgvs_c": "c.5184C>G",
          "hgvs_p": "p.Thr1728Thr",
          "transcript": "ENST00000674100.1",
          "protein_id": "ENSP00000501292.1",
          "transcript_support_level": null,
          "aa_start": 1728,
          "aa_end": null,
          "aa_length": 1730,
          "cds_start": 5184,
          "cds_end": null,
          "cds_length": 5193,
          "cdna_start": 5514,
          "cdna_end": null,
          "cdna_length": 5549,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CUL7",
          "gene_hgnc_id": 21024,
          "hgvs_c": "c.5184C>G",
          "hgvs_p": "p.Thr1728Thr",
          "transcript": "ENST00000674134.1",
          "protein_id": "ENSP00000501068.1",
          "transcript_support_level": null,
          "aa_start": 1728,
          "aa_end": null,
          "aa_length": 1730,
          "cds_start": 5184,
          "cds_end": null,
          "cds_length": 5193,
          "cdna_start": 5372,
          "cdna_end": null,
          "cdna_length": 5427,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CUL7",
          "gene_hgnc_id": 21024,
          "hgvs_c": "c.5100C>G",
          "hgvs_p": "p.Thr1700Thr",
          "transcript": "NM_001374873.1",
          "protein_id": "NP_001361802.1",
          "transcript_support_level": null,
          "aa_start": 1700,
          "aa_end": null,
          "aa_length": 1702,
          "cds_start": 5100,
          "cds_end": null,
          "cds_length": 5109,
          "cdna_start": 5338,
          "cdna_end": null,
          "cdna_length": 5418,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CUL7",
          "gene_hgnc_id": 21024,
          "hgvs_c": "c.5088C>G",
          "hgvs_p": "p.Thr1696Thr",
          "transcript": "ENST00000690231.1",
          "protein_id": "ENSP00000508461.1",
          "transcript_support_level": null,
          "aa_start": 1696,
          "aa_end": null,
          "aa_length": 1698,
          "cds_start": 5088,
          "cds_end": null,
          "cds_length": 5097,
          "cdna_start": 5288,
          "cdna_end": null,
          "cdna_length": 5354,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CUL7",
          "gene_hgnc_id": 21024,
          "hgvs_c": "c.5085C>G",
          "hgvs_p": "p.Thr1695Thr",
          "transcript": "NM_001374874.1",
          "protein_id": "NP_001361803.1",
          "transcript_support_level": null,
          "aa_start": 1695,
          "aa_end": null,
          "aa_length": 1697,
          "cds_start": 5085,
          "cds_end": null,
          "cds_length": 5094,
          "cdna_start": 5323,
          "cdna_end": null,
          "cdna_length": 5403,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CUL7",
          "gene_hgnc_id": 21024,
          "hgvs_c": "c.1113C>G",
          "hgvs_p": "p.Thr371Thr",
          "transcript": "ENST00000692002.1",
          "protein_id": "ENSP00000508567.1",
          "transcript_support_level": null,
          "aa_start": 371,
          "aa_end": null,
          "aa_length": 373,
          "cds_start": 1113,
          "cds_end": null,
          "cds_length": 1122,
          "cdna_start": 1113,
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          "cdna_length": 1192,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CUL7",
          "gene_hgnc_id": 21024,
          "hgvs_c": "c.5223C>G",
          "hgvs_p": "p.Thr1741Thr",
          "transcript": "XM_017011533.2",
          "protein_id": "XP_016867022.2",
          "transcript_support_level": null,
          "aa_start": 1741,
          "aa_end": null,
          "aa_length": 1743,
          "cds_start": 5223,
          "cds_end": null,
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          "cdna_start": 5372,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
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          "gene_symbol": "CUL7",
          "gene_hgnc_id": 21024,
          "hgvs_c": "c.5211C>G",
          "hgvs_p": "p.Thr1737Thr",
          "transcript": "XM_017011534.2",
          "protein_id": "XP_016867023.2",
          "transcript_support_level": null,
          "aa_start": 1737,
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          "aa_length": 1739,
          "cds_start": 5211,
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          "cdna_start": 5360,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 26,
          "intron_rank": null,
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          "gene_symbol": "CUL7",
          "gene_hgnc_id": 21024,
          "hgvs_c": "c.5196C>G",
          "hgvs_p": "p.Thr1732Thr",
          "transcript": "XM_011515019.3",
          "protein_id": "XP_011513321.2",
          "transcript_support_level": null,
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          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CUL7",
          "gene_hgnc_id": 21024,
          "hgvs_c": "c.5127C>G",
          "hgvs_p": "p.Thr1709Thr",
          "transcript": "XM_017011535.2",
          "protein_id": "XP_016867024.2",
          "transcript_support_level": null,
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          "cds_start": 5127,
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          "feature": null
        },
        {
          "aa_ref": "T",
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          "gene_symbol": "CUL7",
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          "hgvs_c": "c.5115C>G",
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CUL7",
          "gene_hgnc_id": 21024,
          "hgvs_c": "c.5100C>G",
          "hgvs_p": "p.Thr1700Thr",
          "transcript": "XM_011515020.3",
          "protein_id": "XP_011513322.2",
          "transcript_support_level": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
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          "gene_symbol": "CUL7",
          "gene_hgnc_id": 21024,
          "hgvs_c": "c.5088C>G",
          "hgvs_p": "p.Thr1696Thr",
          "transcript": "XM_005249503.4",
          "protein_id": "XP_005249560.2",
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        },
        {
          "aa_ref": "T",
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "CUL7",
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          "hgvs_c": "c.2961C>G",
          "hgvs_p": "p.Thr987Thr",
          "transcript": "XM_011515021.2",
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          "biotype": null,
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        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
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          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "CUL7",
          "gene_hgnc_id": 21024,
          "hgvs_c": "c.2949C>G",
          "hgvs_p": "p.Thr983Thr",
          "transcript": "XM_047419601.1",
          "protein_id": "XP_047275557.1",
          "transcript_support_level": null,
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        },
        {
          "aa_ref": null,
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          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CUL7",
          "gene_hgnc_id": 21024,
          "hgvs_c": "n.3308C>G",
          "hgvs_p": null,
          "transcript": "ENST00000478630.2",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 3361,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
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      ],
      "gene_symbol": "CUL7",
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      "dbsnp": "rs73733789",
      "frequency_reference_population": 7.127411e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 7.12741e-7,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.6499999761581421,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.65,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.159,
      "phylop100way_prediction": "Benign",
      "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": -3,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP7",
      "acmg_by_gene": [
        {
          "score": -3,
          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP7"
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          "verdict": "Likely_benign",
          "transcript": "NM_014780.5",
          "gene_symbol": "CUL7",
          "hgnc_id": 21024,
          "effects": [
            "synonymous_variant"
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          "inheritance_mode": "AR",
          "hgvs_c": "c.5088C>G",
          "hgvs_p": "p.Thr1696Thr"
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}