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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: 15-72206852-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72206852&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 72206852,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_001206796.3",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1016G>C",
          "hgvs_p": "p.Arg339Pro",
          "transcript": "NM_002654.6",
          "protein_id": "NP_002645.3",
          "transcript_support_level": null,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 531,
          "cds_start": 1016,
          "cds_end": null,
          "cds_length": 1596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000335181.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002654.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1016G>C",
          "hgvs_p": "p.Arg339Pro",
          "transcript": "ENST00000335181.10",
          "protein_id": "ENSP00000334983.5",
          "transcript_support_level": 1,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 531,
          "cds_start": 1016,
          "cds_end": null,
          "cds_length": 1596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_002654.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000335181.10"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1121G>C",
          "hgvs_p": "p.Arg374Pro",
          "transcript": "ENST00000565184.6",
          "protein_id": "ENSP00000455736.2",
          "transcript_support_level": 1,
          "aa_start": 374,
          "aa_end": null,
          "aa_length": 566,
          "cds_start": 1121,
          "cds_end": null,
          "cds_length": 1701,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000565184.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1016G>C",
          "hgvs_p": "p.Arg339Pro",
          "transcript": "ENST00000568459.5",
          "protein_id": "ENSP00000456970.1",
          "transcript_support_level": 1,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 531,
          "cds_start": 1016,
          "cds_end": null,
          "cds_length": 1596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000568459.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1016G>C",
          "hgvs_p": "p.Arg339Pro",
          "transcript": "ENST00000561609.5",
          "protein_id": "ENSP00000457253.1",
          "transcript_support_level": 1,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 484,
          "cds_start": 1016,
          "cds_end": null,
          "cds_length": 1455,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000561609.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "n.522G>C",
          "hgvs_p": null,
          "transcript": "ENST00000563275.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000563275.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1238G>C",
          "hgvs_p": "p.Arg413Pro",
          "transcript": "NM_001206796.3",
          "protein_id": "NP_001193725.1",
          "transcript_support_level": null,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": 1238,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001206796.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1238G>C",
          "hgvs_p": "p.Arg413Pro",
          "transcript": "NM_001411081.1",
          "protein_id": "NP_001398010.1",
          "transcript_support_level": null,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": 1238,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001411081.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1238G>C",
          "hgvs_p": "p.Arg413Pro",
          "transcript": "ENST00000565154.6",
          "protein_id": "ENSP00000455901.2",
          "transcript_support_level": 2,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": 1238,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000565154.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1238G>C",
          "hgvs_p": "p.Arg413Pro",
          "transcript": "ENST00000698741.1",
          "protein_id": "ENSP00000513903.1",
          "transcript_support_level": null,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": 1238,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000698741.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1016G>C",
          "hgvs_p": "p.Arg339Pro",
          "transcript": "ENST00000969850.1",
          "protein_id": "ENSP00000639909.1",
          "transcript_support_level": null,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 593,
          "cds_start": 1016,
          "cds_end": null,
          "cds_length": 1782,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969850.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1016G>C",
          "hgvs_p": "p.Arg339Pro",
          "transcript": "ENST00000933441.1",
          "protein_id": "ENSP00000603500.1",
          "transcript_support_level": null,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 582,
          "cds_start": 1016,
          "cds_end": null,
          "cds_length": 1749,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000933441.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1121G>C",
          "hgvs_p": "p.Arg374Pro",
          "transcript": "NM_001316318.2",
          "protein_id": "NP_001303247.1",
          "transcript_support_level": null,
          "aa_start": 374,
          "aa_end": null,
          "aa_length": 566,
          "cds_start": 1121,
          "cds_end": null,
          "cds_length": 1701,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001316318.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1031G>C",
          "hgvs_p": "p.Arg344Pro",
          "transcript": "NM_001206799.2",
          "protein_id": "NP_001193728.1",
          "transcript_support_level": null,
          "aa_start": 344,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": 1031,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001206799.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1016G>C",
          "hgvs_p": "p.Arg339Pro",
          "transcript": "NM_182470.4",
          "protein_id": "NP_872270.1",
          "transcript_support_level": null,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 531,
          "cds_start": 1016,
          "cds_end": null,
          "cds_length": 1596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_182470.4"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1016G>C",
          "hgvs_p": "p.Arg339Pro",
          "transcript": "NM_182471.4",
          "protein_id": "NP_872271.1",
          "transcript_support_level": null,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 531,
          "cds_start": 1016,
          "cds_end": null,
          "cds_length": 1596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_182471.4"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1016G>C",
          "hgvs_p": "p.Arg339Pro",
          "transcript": "ENST00000319622.10",
          "protein_id": "ENSP00000320171.6",
          "transcript_support_level": 2,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 531,
          "cds_start": 1016,
          "cds_end": null,
          "cds_length": 1596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000319622.10"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1016G>C",
          "hgvs_p": "p.Arg339Pro",
          "transcript": "ENST00000891959.1",
          "protein_id": "ENSP00000562018.1",
          "transcript_support_level": null,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 531,
          "cds_start": 1016,
          "cds_end": null,
          "cds_length": 1596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891959.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
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          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1016G>C",
          "hgvs_p": "p.Arg339Pro",
          "transcript": "ENST00000891960.1",
          "protein_id": "ENSP00000562019.1",
          "transcript_support_level": null,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 531,
          "cds_start": 1016,
          "cds_end": null,
          "cds_length": 1596,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891960.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PKM",
          "gene_hgnc_id": 9021,
          "hgvs_c": "c.1016G>C",
          "hgvs_p": "p.Arg339Pro",
          "transcript": "ENST00000891961.1",
          "protein_id": "ENSP00000562020.1",
          "transcript_support_level": null,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 531,
          "cds_start": 1016,
          "cds_end": null,
          "cds_length": 1596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891961.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
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      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 6,
      "acmg_classification": "Likely_pathogenic",
      "acmg_criteria": "PM2,PP3_Strong",
      "acmg_by_gene": [
        {
          "score": 6,
          "benign_score": 0,
          "pathogenic_score": 6,
          "criteria": [
            "PM2",
            "PP3_Strong"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "NM_001206796.3",
          "gene_symbol": "PKM",
          "hgnc_id": 9021,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1238G>C",
          "hgvs_p": "p.Arg413Pro"
        },
        {
          "score": 6,
          "benign_score": 0,
          "pathogenic_score": 6,
          "criteria": [
            "PM2",
            "PP3_Strong"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "ENST00000793552.1",
          "gene_symbol": "ENSG00000303314",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.165-1834C>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
}