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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: 9-76619356-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=76619356&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 76619356,
      "ref": "A",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000376718.8",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.9220T>C",
          "hgvs_p": "p.Ser3074Pro",
          "transcript": "NM_015225.3",
          "protein_id": "NP_056040.2",
          "transcript_support_level": null,
          "aa_start": 3074,
          "aa_end": null,
          "aa_length": 3088,
          "cds_start": 9220,
          "cds_end": null,
          "cds_length": 9267,
          "cdna_start": 9371,
          "cdna_end": null,
          "cdna_length": 12612,
          "mane_select": "ENST00000376718.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.9220T>C",
          "hgvs_p": "p.Ser3074Pro",
          "transcript": "ENST00000376718.8",
          "protein_id": "ENSP00000365908.3",
          "transcript_support_level": 5,
          "aa_start": 3074,
          "aa_end": null,
          "aa_length": 3088,
          "cds_start": 9220,
          "cds_end": null,
          "cds_length": 9267,
          "cdna_start": 9371,
          "cdna_end": null,
          "cdna_length": 12612,
          "mane_select": "NM_015225.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.8146T>C",
          "hgvs_p": "p.Ser2716Pro",
          "transcript": "ENST00000428286.5",
          "protein_id": "ENSP00000397425.1",
          "transcript_support_level": 5,
          "aa_start": 2716,
          "aa_end": null,
          "aa_length": 2730,
          "cds_start": 8146,
          "cds_end": null,
          "cds_length": 8193,
          "cdna_start": 9301,
          "cdna_end": null,
          "cdna_length": 12437,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.1015T>C",
          "hgvs_p": "p.Ser339Pro",
          "transcript": "NM_001330680.2",
          "protein_id": "NP_001317609.1",
          "transcript_support_level": null,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 353,
          "cds_start": 1015,
          "cds_end": null,
          "cds_length": 1062,
          "cdna_start": 1071,
          "cdna_end": null,
          "cdna_length": 4312,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.1015T>C",
          "hgvs_p": "p.Ser339Pro",
          "transcript": "ENST00000376717.6",
          "protein_id": "ENSP00000365907.2",
          "transcript_support_level": 5,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 353,
          "cds_start": 1015,
          "cds_end": null,
          "cds_length": 1062,
          "cdna_start": 1067,
          "cdna_end": null,
          "cdna_length": 4308,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.1012T>C",
          "hgvs_p": "p.Ser338Pro",
          "transcript": "NM_001308050.2",
          "protein_id": "NP_001294979.1",
          "transcript_support_level": null,
          "aa_start": 338,
          "aa_end": null,
          "aa_length": 352,
          "cds_start": 1012,
          "cds_end": null,
          "cds_length": 1059,
          "cdna_start": 1068,
          "cdna_end": null,
          "cdna_length": 4309,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.967T>C",
          "hgvs_p": "p.Ser323Pro",
          "transcript": "NM_001308049.2",
          "protein_id": "NP_001294978.1",
          "transcript_support_level": null,
          "aa_start": 323,
          "aa_end": null,
          "aa_length": 337,
          "cds_start": 967,
          "cds_end": null,
          "cds_length": 1014,
          "cdna_start": 1213,
          "cdna_end": null,
          "cdna_length": 4454,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.736T>C",
          "hgvs_p": "p.Ser246Pro",
          "transcript": "ENST00000424866.1",
          "protein_id": "ENSP00000393657.1",
          "transcript_support_level": 5,
          "aa_start": 246,
          "aa_end": null,
          "aa_length": 260,
          "cds_start": 736,
          "cds_end": null,
          "cds_length": 783,
          "cdna_start": 736,
          "cdna_end": null,
          "cdna_length": 903,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.9268T>C",
          "hgvs_p": "p.Ser3090Pro",
          "transcript": "XM_006716982.2",
          "protein_id": "XP_006717045.1",
          "transcript_support_level": null,
          "aa_start": 3090,
          "aa_end": null,
          "aa_length": 3104,
          "cds_start": 9268,
          "cds_end": null,
          "cds_length": 9315,
          "cdna_start": 9419,
          "cdna_end": null,
          "cdna_length": 12660,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.9265T>C",
          "hgvs_p": "p.Ser3089Pro",
          "transcript": "XM_006716983.2",
          "protein_id": "XP_006717046.1",
          "transcript_support_level": null,
          "aa_start": 3089,
          "aa_end": null,
          "aa_length": 3103,
          "cds_start": 9265,
          "cds_end": null,
          "cds_length": 9312,
          "cdna_start": 9416,
          "cdna_end": null,
          "cdna_length": 12657,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "P",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
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          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.9268T>C",
          "hgvs_p": "p.Ser3090Pro",
          "transcript": "XM_006716984.3",
          "protein_id": "XP_006717047.1",
          "transcript_support_level": null,
          "aa_start": 3090,
          "aa_end": null,
          "aa_length": 3101,
          "cds_start": 9268,
          "cds_end": null,
          "cds_length": 9306,
          "cdna_start": 9419,
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          "cdna_length": 12707,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 19,
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          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "PRUNE2",
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          "hgvs_c": "c.9259T>C",
          "hgvs_p": "p.Ser3087Pro",
          "transcript": "XM_006716985.2",
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          "cds_start": 9259,
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          "cdna_start": 9410,
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          "mane_select": null,
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        },
        {
          "aa_ref": "S",
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          "protein_coding": true,
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          "consequences": [
            "missense_variant"
          ],
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          "intron_rank": null,
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          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.9268T>C",
          "hgvs_p": "p.Ser3090Pro",
          "transcript": "XM_047422876.1",
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          "transcript_support_level": null,
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        },
        {
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          "protein_coding": true,
          "strand": false,
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          ],
          "exon_rank": 19,
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          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.9256T>C",
          "hgvs_p": "p.Ser3086Pro",
          "transcript": "XM_006716986.2",
          "protein_id": "XP_006717049.1",
          "transcript_support_level": null,
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          "cds_start": 9256,
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        },
        {
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          ],
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          "gene_symbol": "PRUNE2",
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          "hgvs_c": "c.9232T>C",
          "hgvs_p": "p.Ser3078Pro",
          "transcript": "XM_005251745.2",
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        },
        {
          "aa_ref": "S",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.9229T>C",
          "hgvs_p": "p.Ser3077Pro",
          "transcript": "XM_005251746.2",
          "protein_id": "XP_005251803.1",
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        },
        {
          "aa_ref": "S",
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          "strand": false,
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          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.9226T>C",
          "hgvs_p": "p.Ser3076Pro",
          "transcript": "XM_005251748.2",
          "protein_id": "XP_005251805.1",
          "transcript_support_level": null,
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        {
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          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.9223T>C",
          "hgvs_p": "p.Ser3075Pro",
          "transcript": "XM_011518323.3",
          "protein_id": "XP_011516625.1",
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "PRUNE2",
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          "hgvs_c": "c.9220T>C",
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        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.9229T>C",
          "hgvs_p": "p.Ser3077Pro",
          "transcript": "XM_047422878.1",
          "protein_id": "XP_047278834.1",
          "transcript_support_level": null,
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          "aa_length": 3088,
          "cds_start": 9229,
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          "cdna_start": 9380,
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          "cdna_length": 9537,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
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            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "XR_002956900.2",
          "gene_symbol": "LOC105376095",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.439+10014A>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}