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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: 15-33859641-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=33859641&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 33859641,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_001036.6",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 100,
          "exon_rank_end": null,
          "exon_count": 104,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.14209C>G",
          "hgvs_p": "p.Pro4737Ala",
          "transcript": "NM_001036.6",
          "protein_id": "NP_001027.3",
          "transcript_support_level": null,
          "aa_start": 4737,
          "aa_end": null,
          "aa_length": 4870,
          "cds_start": 14209,
          "cds_end": null,
          "cds_length": 14613,
          "cdna_start": 14288,
          "cdna_end": null,
          "cdna_length": 15568,
          "mane_select": "ENST00000634891.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001036.6"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 100,
          "exon_rank_end": null,
          "exon_count": 104,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.14209C>G",
          "hgvs_p": "p.Pro4737Ala",
          "transcript": "ENST00000634891.2",
          "protein_id": "ENSP00000489262.1",
          "transcript_support_level": 1,
          "aa_start": 4737,
          "aa_end": null,
          "aa_length": 4870,
          "cds_start": 14209,
          "cds_end": null,
          "cds_length": 14613,
          "cdna_start": 14288,
          "cdna_end": null,
          "cdna_length": 15568,
          "mane_select": "NM_001036.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000634891.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 100,
          "exon_rank_end": null,
          "exon_count": 104,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.14206C>G",
          "hgvs_p": "p.Pro4736Ala",
          "transcript": "ENST00000389232.9",
          "protein_id": "ENSP00000373884.5",
          "transcript_support_level": 5,
          "aa_start": 4736,
          "aa_end": null,
          "aa_length": 4869,
          "cds_start": 14206,
          "cds_end": null,
          "cds_length": 14610,
          "cdna_start": 14276,
          "cdna_end": null,
          "cdna_length": 15552,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000389232.9"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 99,
          "exon_rank_end": null,
          "exon_count": 103,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.14194C>G",
          "hgvs_p": "p.Pro4732Ala",
          "transcript": "NM_001243996.4",
          "protein_id": "NP_001230925.1",
          "transcript_support_level": null,
          "aa_start": 4732,
          "aa_end": null,
          "aa_length": 4865,
          "cds_start": 14194,
          "cds_end": null,
          "cds_length": 14598,
          "cdna_start": 14273,
          "cdna_end": null,
          "cdna_length": 15553,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001243996.4"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 99,
          "exon_rank_end": null,
          "exon_count": 103,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.14194C>G",
          "hgvs_p": "p.Pro4732Ala",
          "transcript": "ENST00000415757.7",
          "protein_id": "ENSP00000399610.3",
          "transcript_support_level": 2,
          "aa_start": 4732,
          "aa_end": null,
          "aa_length": 4865,
          "cds_start": 14194,
          "cds_end": null,
          "cds_length": 14598,
          "cdna_start": 14278,
          "cdna_end": null,
          "cdna_length": 15557,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000415757.7"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 98,
          "exon_rank_end": null,
          "exon_count": 102,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.14176C>G",
          "hgvs_p": "p.Pro4726Ala",
          "transcript": "ENST00000634418.1",
          "protein_id": "ENSP00000489529.1",
          "transcript_support_level": 5,
          "aa_start": 4726,
          "aa_end": null,
          "aa_length": 4859,
          "cds_start": 14176,
          "cds_end": null,
          "cds_length": 14580,
          "cdna_start": 14176,
          "cdna_end": null,
          "cdna_length": 15078,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000634418.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.1444C>G",
          "hgvs_p": "p.Pro482Ala",
          "transcript": "ENST00000634730.1",
          "protein_id": "ENSP00000489346.1",
          "transcript_support_level": 5,
          "aa_start": 482,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 1444,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": 1444,
          "cdna_end": null,
          "cdna_length": 2743,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000634730.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.1000C>G",
          "hgvs_p": "p.Pro334Ala",
          "transcript": "ENST00000636568.1",
          "protein_id": "ENSP00000490632.1",
          "transcript_support_level": 5,
          "aa_start": 334,
          "aa_end": null,
          "aa_length": 467,
          "cds_start": 1000,
          "cds_end": null,
          "cds_length": 1404,
          "cdna_start": 1002,
          "cdna_end": null,
          "cdna_length": 2257,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000636568.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 99,
          "exon_rank_end": null,
          "exon_count": 103,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.14197C>G",
          "hgvs_p": "p.Pro4733Ala",
          "transcript": "XM_017022468.2",
          "protein_id": "XP_016877957.1",
          "transcript_support_level": null,
          "aa_start": 4733,
          "aa_end": null,
          "aa_length": 4866,
          "cds_start": 14197,
          "cds_end": null,
          "cds_length": 14601,
          "cdna_start": 14276,
          "cdna_end": null,
          "cdna_length": 15556,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017022468.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 99,
          "exon_rank_end": null,
          "exon_count": 103,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.14194C>G",
          "hgvs_p": "p.Pro4732Ala",
          "transcript": "XM_017022469.2",
          "protein_id": "XP_016877958.1",
          "transcript_support_level": null,
          "aa_start": 4732,
          "aa_end": null,
          "aa_length": 4865,
          "cds_start": 14194,
          "cds_end": null,
          "cds_length": 14598,
          "cdna_start": 14273,
          "cdna_end": null,
          "cdna_length": 15553,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017022469.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 99,
          "exon_rank_end": null,
          "exon_count": 103,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.14194C>G",
          "hgvs_p": "p.Pro4732Ala",
          "transcript": "XM_017022470.3",
          "protein_id": "XP_016877959.1",
          "transcript_support_level": null,
          "aa_start": 4732,
          "aa_end": null,
          "aa_length": 4865,
          "cds_start": 14194,
          "cds_end": null,
          "cds_length": 14598,
          "cdna_start": 17696,
          "cdna_end": null,
          "cdna_length": 18976,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017022470.3"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 99,
          "exon_rank_end": null,
          "exon_count": 103,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.14194C>G",
          "hgvs_p": "p.Pro4732Ala",
          "transcript": "XM_017022471.2",
          "protein_id": "XP_016877960.1",
          "transcript_support_level": null,
          "aa_start": 4732,
          "aa_end": null,
          "aa_length": 4865,
          "cds_start": 14194,
          "cds_end": null,
          "cds_length": 14598,
          "cdna_start": 14273,
          "cdna_end": null,
          "cdna_length": 15553,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017022471.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 99,
          "exon_rank_end": null,
          "exon_count": 103,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.14191C>G",
          "hgvs_p": "p.Pro4731Ala",
          "transcript": "XM_017022472.2",
          "protein_id": "XP_016877961.1",
          "transcript_support_level": null,
          "aa_start": 4731,
          "aa_end": null,
          "aa_length": 4864,
          "cds_start": 14191,
          "cds_end": null,
          "cds_length": 14595,
          "cdna_start": 14270,
          "cdna_end": null,
          "cdna_length": 15550,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017022472.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 99,
          "exon_rank_end": null,
          "exon_count": 103,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.14191C>G",
          "hgvs_p": "p.Pro4731Ala",
          "transcript": "XM_024450015.2",
          "protein_id": "XP_024305783.1",
          "transcript_support_level": null,
          "aa_start": 4731,
          "aa_end": null,
          "aa_length": 4864,
          "cds_start": 14191,
          "cds_end": null,
          "cds_length": 14595,
          "cdna_start": 14270,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_024450015.2"
        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 99,
          "exon_rank_end": null,
          "exon_count": 103,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.14188C>G",
          "hgvs_p": "p.Pro4730Ala",
          "transcript": "XM_024450016.2",
          "protein_id": "XP_024305784.1",
          "transcript_support_level": null,
          "aa_start": 4730,
          "aa_end": null,
          "aa_length": 4863,
          "cds_start": 14188,
          "cds_end": null,
          "cds_length": 14592,
          "cdna_start": 14267,
          "cdna_end": null,
          "cdna_length": 15547,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024450016.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 98,
          "exon_rank_end": null,
          "exon_count": 102,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.14179C>G",
          "hgvs_p": "p.Pro4727Ala",
          "transcript": "XM_017022473.2",
          "protein_id": "XP_016877962.1",
          "transcript_support_level": null,
          "aa_start": 4727,
          "aa_end": null,
          "aa_length": 4860,
          "cds_start": 14179,
          "cds_end": null,
          "cds_length": 14583,
          "cdna_start": 14258,
          "cdna_end": null,
          "cdna_length": 15538,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017022473.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 98,
          "exon_rank_end": null,
          "exon_count": 102,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.14176C>G",
          "hgvs_p": "p.Pro4726Ala",
          "transcript": "XM_011521880.3",
          "protein_id": "XP_011520182.1",
          "transcript_support_level": null,
          "aa_start": 4726,
          "aa_end": null,
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          "cdna_start": 14255,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 99,
          "exon_rank_end": null,
          "exon_count": 103,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.14176C>G",
          "hgvs_p": "p.Pro4726Ala",
          "transcript": "XM_017022474.2",
          "protein_id": "XP_016877963.1",
          "transcript_support_level": null,
          "aa_start": 4726,
          "aa_end": null,
          "aa_length": 4859,
          "cds_start": 14176,
          "cds_end": null,
          "cds_length": 14580,
          "cdna_start": 14433,
          "cdna_end": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_017022474.2"
        },
        {
          "aa_ref": "P",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 102,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.14197C>G",
          "hgvs_p": "p.Pro4733Ala",
          "transcript": "XM_047432931.1",
          "protein_id": "XP_047288887.1",
          "transcript_support_level": null,
          "aa_start": 4733,
          "aa_end": null,
          "aa_length": 4838,
          "cds_start": 14197,
          "cds_end": null,
          "cds_length": 14517,
          "cdna_start": 14276,
          "cdna_end": null,
          "cdna_length": 16497,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047432931.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 98,
          "exon_rank_end": null,
          "exon_count": 102,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RYR3",
          "gene_hgnc_id": 10485,
          "hgvs_c": "c.14110C>G",
          "hgvs_p": "p.Pro4704Ala",
          "transcript": "XM_017022475.2",
          "protein_id": "XP_016877964.1",
          "transcript_support_level": null,
          "aa_start": 4704,
          "aa_end": null,
          "aa_length": 4837,
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          "hgvs_p": "p.Pro4737Ala"
        },
        {
          "score": 4,
          "benign_score": 0,
          "pathogenic_score": 4,
          "criteria": [
            "PM2",
            "PP3_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "XR_007064476.1",
          "gene_symbol": "AVEN",
          "hgnc_id": 13509,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "n.6633G>C",
          "hgvs_p": null
        },
        {
          "score": 4,
          "benign_score": 0,
          "pathogenic_score": 4,
          "criteria": [
            "PM2",
            "PP3_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000560268.2",
          "gene_symbol": "ENSG00000259287",
          "hgnc_id": 58469,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.70-547G>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Epileptic encephalopathy",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Epileptic encephalopathy",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}
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