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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: 2-47800945-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47800945&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 47800945,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_000179.3",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2962C>A",
          "hgvs_p": "p.Arg988Ser",
          "transcript": "NM_000179.3",
          "protein_id": "NP_000170.1",
          "transcript_support_level": null,
          "aa_start": 988,
          "aa_end": null,
          "aa_length": 1360,
          "cds_start": 2962,
          "cds_end": null,
          "cds_length": 4083,
          "cdna_start": 3051,
          "cdna_end": null,
          "cdna_length": 4265,
          "mane_select": "ENST00000234420.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2962C>A",
          "hgvs_p": "p.Arg988Ser",
          "transcript": "ENST00000234420.11",
          "protein_id": "ENSP00000234420.5",
          "transcript_support_level": 1,
          "aa_start": 988,
          "aa_end": null,
          "aa_length": 1360,
          "cds_start": 2962,
          "cds_end": null,
          "cds_length": 4083,
          "cdna_start": 3051,
          "cdna_end": null,
          "cdna_length": 4265,
          "mane_select": "NM_000179.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.*2309C>A",
          "hgvs_p": null,
          "transcript": "ENST00000445503.5",
          "protein_id": "ENSP00000405294.1",
          "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": 4158,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "n.*2309C>A",
          "hgvs_p": null,
          "transcript": "ENST00000445503.5",
          "protein_id": "ENSP00000405294.1",
          "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": 4158,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.3058C>A",
          "hgvs_p": "p.Arg1020Ser",
          "transcript": "NM_001406795.1",
          "protein_id": "NP_001393724.1",
          "transcript_support_level": null,
          "aa_start": 1020,
          "aa_end": null,
          "aa_length": 1392,
          "cds_start": 3058,
          "cds_end": null,
          "cds_length": 4179,
          "cdna_start": 3147,
          "cdna_end": null,
          "cdna_length": 4361,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2968C>A",
          "hgvs_p": "p.Arg990Ser",
          "transcript": "NM_001406813.1",
          "protein_id": "NP_001393742.1",
          "transcript_support_level": null,
          "aa_start": 990,
          "aa_end": null,
          "aa_length": 1362,
          "cds_start": 2968,
          "cds_end": null,
          "cds_length": 4089,
          "cdna_start": 3057,
          "cdna_end": null,
          "cdna_length": 4271,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2968C>A",
          "hgvs_p": "p.Arg990Ser",
          "transcript": "ENST00000700002.1",
          "protein_id": "ENSP00000514750.1",
          "transcript_support_level": null,
          "aa_start": 990,
          "aa_end": null,
          "aa_length": 1362,
          "cds_start": 2968,
          "cds_end": null,
          "cds_length": 4089,
          "cdna_start": 3040,
          "cdna_end": null,
          "cdna_length": 4233,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2962C>A",
          "hgvs_p": "p.Arg988Ser",
          "transcript": "NM_001406796.1",
          "protein_id": "NP_001393725.1",
          "transcript_support_level": null,
          "aa_start": 988,
          "aa_end": null,
          "aa_length": 1360,
          "cds_start": 2962,
          "cds_end": null,
          "cds_length": 4083,
          "cdna_start": 3051,
          "cdna_end": null,
          "cdna_length": 4315,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2962C>A",
          "hgvs_p": "p.Arg988Ser",
          "transcript": "NM_001406809.1",
          "protein_id": "NP_001393738.1",
          "transcript_support_level": null,
          "aa_start": 988,
          "aa_end": null,
          "aa_length": 1360,
          "cds_start": 2962,
          "cds_end": null,
          "cds_length": 4083,
          "cdna_start": 3051,
          "cdna_end": null,
          "cdna_length": 4318,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2962C>A",
          "hgvs_p": "p.Arg988Ser",
          "transcript": "NM_001406808.1",
          "protein_id": "NP_001393737.1",
          "transcript_support_level": null,
          "aa_start": 988,
          "aa_end": null,
          "aa_length": 1337,
          "cds_start": 2962,
          "cds_end": null,
          "cds_length": 4014,
          "cdna_start": 3051,
          "cdna_end": null,
          "cdna_length": 4260,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2884C>A",
          "hgvs_p": "p.Arg962Ser",
          "transcript": "NM_001406804.1",
          "protein_id": "NP_001393733.1",
          "transcript_support_level": null,
          "aa_start": 962,
          "aa_end": null,
          "aa_length": 1334,
          "cds_start": 2884,
          "cds_end": null,
          "cds_length": 4005,
          "cdna_start": 3028,
          "cdna_end": null,
          "cdna_length": 4242,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2962C>A",
          "hgvs_p": "p.Arg988Ser",
          "transcript": "NM_001406800.1",
          "protein_id": "NP_001393729.1",
          "transcript_support_level": null,
          "aa_start": 988,
          "aa_end": null,
          "aa_length": 1321,
          "cds_start": 2962,
          "cds_end": null,
          "cds_length": 3966,
          "cdna_start": 3051,
          "cdna_end": null,
          "cdna_length": 4252,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.3058C>A",
          "hgvs_p": "p.Arg1020Ser",
          "transcript": "NM_001406802.1",
          "protein_id": "NP_001393731.1",
          "transcript_support_level": null,
          "aa_start": 1020,
          "aa_end": null,
          "aa_length": 1304,
          "cds_start": 3058,
          "cds_end": null,
          "cds_length": 3915,
          "cdna_start": 3147,
          "cdna_end": null,
          "cdna_length": 4161,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2794C>A",
          "hgvs_p": "p.Arg932Ser",
          "transcript": "NM_001406826.1",
          "protein_id": "NP_001393755.1",
          "transcript_support_level": null,
          "aa_start": 932,
          "aa_end": null,
          "aa_length": 1304,
          "cds_start": 2794,
          "cds_end": null,
          "cds_length": 3915,
          "cdna_start": 3174,
          "cdna_end": null,
          "cdna_length": 4388,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2962C>A",
          "hgvs_p": "p.Arg988Ser",
          "transcript": "NM_001406798.1",
          "protein_id": "NP_001393727.1",
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          "aa_start": 988,
          "aa_end": null,
          "aa_length": 1302,
          "cds_start": 2962,
          "cds_end": null,
          "cds_length": 3909,
          "cdna_start": 3051,
          "cdna_end": null,
          "cdna_length": 4091,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2665C>A",
          "hgvs_p": "p.Arg889Ser",
          "transcript": "NM_001406797.1",
          "protein_id": "NP_001393726.1",
          "transcript_support_level": null,
          "aa_start": 889,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2665,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 2789,
          "cdna_end": null,
          "cdna_length": 4003,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2665C>A",
          "hgvs_p": "p.Arg889Ser",
          "transcript": "NM_001406805.1",
          "protein_id": "NP_001393734.1",
          "transcript_support_level": null,
          "aa_start": 889,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2665,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 2789,
          "cdna_end": null,
          "cdna_length": 4053,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
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          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2665C>A",
          "hgvs_p": "p.Arg889Ser",
          "transcript": "NM_001406818.1",
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          "aa_start": 889,
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          "cdna_start": 2879,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2665C>A",
          "hgvs_p": "p.Arg889Ser",
          "transcript": "NM_001406819.1",
          "protein_id": "NP_001393748.1",
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          "cds_start": 2665,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MSH6",
          "gene_hgnc_id": 7329,
          "hgvs_c": "c.2665C>A",
          "hgvs_p": "p.Arg889Ser",
          "transcript": "NM_001406820.1",
          "protein_id": "NP_001393749.1",
          "transcript_support_level": null,
          "aa_start": 889,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2665,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 2756,
          "cdna_end": null,
          "cdna_length": 3970,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
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          "verdict": "Uncertain_significance",
          "transcript": "ENST00000434234.5",
          "gene_symbol": "FBXO11",
          "hgnc_id": 13590,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "n.*124+7049G>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Hereditary cancer-predisposing syndrome,Hereditary nonpolyposis colorectal neoplasms",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "US:2",
      "phenotype_combined": "Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}