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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: 22-31906305-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31906305&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 31906305,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "ENST00000651528.2",
      "consequences": [
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4620C>T",
          "hgvs_p": "p.Cys1540Cys",
          "transcript": "NM_001242896.3",
          "protein_id": "NP_001229825.1",
          "transcript_support_level": null,
          "aa_start": 1540,
          "aa_end": null,
          "aa_length": 1603,
          "cds_start": 4620,
          "cds_end": null,
          "cds_length": 4812,
          "cdna_start": 4826,
          "cdna_end": null,
          "cdna_length": 6554,
          "mane_select": "ENST00000651528.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4620C>T",
          "hgvs_p": "p.Cys1540Cys",
          "transcript": "ENST00000651528.2",
          "protein_id": "ENSP00000498382.1",
          "transcript_support_level": null,
          "aa_start": 1540,
          "aa_end": null,
          "aa_length": 1603,
          "cds_start": 4620,
          "cds_end": null,
          "cds_length": 4812,
          "cdna_start": 4826,
          "cdna_end": null,
          "cdna_length": 6554,
          "mane_select": "NM_001242896.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4620C>T",
          "hgvs_p": "p.Cys1540Cys",
          "transcript": "ENST00000382112.8",
          "protein_id": "ENSP00000371546.4",
          "transcript_support_level": 1,
          "aa_start": 1540,
          "aa_end": null,
          "aa_length": 1603,
          "cds_start": 4620,
          "cds_end": null,
          "cds_length": 4812,
          "cdna_start": 4706,
          "cdna_end": null,
          "cdna_length": 5390,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4536C>T",
          "hgvs_p": "p.Cys1512Cys",
          "transcript": "ENST00000433147.2",
          "protein_id": "ENSP00000410544.2",
          "transcript_support_level": 1,
          "aa_start": 1512,
          "aa_end": null,
          "aa_length": 1575,
          "cds_start": 4536,
          "cds_end": null,
          "cds_length": 4728,
          "cdna_start": 4638,
          "cdna_end": null,
          "cdna_length": 5331,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4527C>T",
          "hgvs_p": "p.Cys1509Cys",
          "transcript": "ENST00000400248.7",
          "protein_id": "ENSP00000383107.1",
          "transcript_support_level": 1,
          "aa_start": 1509,
          "aa_end": null,
          "aa_length": 1572,
          "cds_start": 4527,
          "cds_end": null,
          "cds_length": 4719,
          "cdna_start": 4610,
          "cdna_end": null,
          "cdna_length": 5319,
          "mane_select": null,
          "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": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "n.*884C>T",
          "hgvs_p": null,
          "transcript": "ENST00000400246.7",
          "protein_id": "ENSP00000383105.3",
          "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": 5725,
          "mane_select": null,
          "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": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "n.*587C>T",
          "hgvs_p": null,
          "transcript": "ENST00000448753.6",
          "protein_id": "ENSP00000402173.1",
          "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": 3256,
          "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": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "n.*884C>T",
          "hgvs_p": null,
          "transcript": "ENST00000400246.7",
          "protein_id": "ENSP00000383105.3",
          "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": 5725,
          "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": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "n.*587C>T",
          "hgvs_p": null,
          "transcript": "ENST00000448753.6",
          "protein_id": "ENSP00000402173.1",
          "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": 3256,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000285404",
          "gene_hgnc_id": null,
          "hgvs_c": "c.1787-49834C>T",
          "hgvs_p": null,
          "transcript": "ENST00000646701.1",
          "protein_id": "ENSP00000496158.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 600,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1803,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1914,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4414C>T",
          "hgvs_p": "p.Arg1472*",
          "transcript": "ENST00000646465.1",
          "protein_id": "ENSP00000495655.1",
          "transcript_support_level": null,
          "aa_start": 1472,
          "aa_end": null,
          "aa_length": 1496,
          "cds_start": 4414,
          "cds_end": null,
          "cds_length": 4491,
          "cdna_start": 4571,
          "cdna_end": null,
          "cdna_length": 5258,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4559C>T",
          "hgvs_p": "p.Ala1520Val",
          "transcript": "ENST00000382111.6",
          "protein_id": "ENSP00000371545.2",
          "transcript_support_level": 5,
          "aa_start": 1520,
          "aa_end": null,
          "aa_length": 1552,
          "cds_start": 4559,
          "cds_end": null,
          "cds_length": 4659,
          "cdna_start": 4619,
          "cdna_end": null,
          "cdna_length": 5212,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4448C>T",
          "hgvs_p": "p.Ala1483Val",
          "transcript": "XM_011530562.3",
          "protein_id": "XP_011528864.1",
          "transcript_support_level": null,
          "aa_start": 1483,
          "aa_end": null,
          "aa_length": 1515,
          "cds_start": 4448,
          "cds_end": null,
          "cds_length": 4548,
          "cdna_start": 4654,
          "cdna_end": null,
          "cdna_length": 6382,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4355C>T",
          "hgvs_p": "p.Ala1452Val",
          "transcript": "XM_047441628.1",
          "protein_id": "XP_047297584.1",
          "transcript_support_level": null,
          "aa_start": 1452,
          "aa_end": null,
          "aa_length": 1484,
          "cds_start": 4355,
          "cds_end": null,
          "cds_length": 4455,
          "cdna_start": 4561,
          "cdna_end": null,
          "cdna_length": 6289,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4214C>T",
          "hgvs_p": "p.Ala1405Val",
          "transcript": "XM_047441629.1",
          "protein_id": "XP_047297585.1",
          "transcript_support_level": null,
          "aa_start": 1405,
          "aa_end": null,
          "aa_length": 1437,
          "cds_start": 4214,
          "cds_end": null,
          "cds_length": 4314,
          "cdna_start": 4420,
          "cdna_end": null,
          "cdna_length": 6148,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 39,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4121C>T",
          "hgvs_p": "p.Ala1374Val",
          "transcript": "XM_047441630.1",
          "protein_id": "XP_047297586.1",
          "transcript_support_level": null,
          "aa_start": 1374,
          "aa_end": null,
          "aa_length": 1406,
          "cds_start": 4121,
          "cds_end": null,
          "cds_length": 4221,
          "cdna_start": 4327,
          "cdna_end": null,
          "cdna_length": 6055,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4620C>T",
          "hgvs_p": "p.Cys1540Cys",
          "transcript": "NM_001364318.2",
          "protein_id": "NP_001351247.1",
          "transcript_support_level": null,
          "aa_start": 1540,
          "aa_end": null,
          "aa_length": 1603,
          "cds_start": 4620,
          "cds_end": null,
          "cds_length": 4812,
          "cdna_start": 4709,
          "cdna_end": null,
          "cdna_length": 6437,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4593C>T",
          "hgvs_p": "p.Cys1531Cys",
          "transcript": "NM_001136029.4",
          "protein_id": "NP_001129501.1",
          "transcript_support_level": null,
          "aa_start": 1531,
          "aa_end": null,
          "aa_length": 1594,
          "cds_start": 4593,
          "cds_end": null,
          "cds_length": 4785,
          "cdna_start": 4682,
          "cdna_end": null,
          "cdna_length": 6410,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4593C>T",
          "hgvs_p": "p.Cys1531Cys",
          "transcript": "ENST00000645711.1",
          "protein_id": "ENSP00000493489.1",
          "transcript_support_level": null,
          "aa_start": 1531,
          "aa_end": null,
          "aa_length": 1594,
          "cds_start": 4593,
          "cds_end": null,
          "cds_length": 4785,
          "cdna_start": 4750,
          "cdna_end": null,
          "cdna_length": 5450,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4578C>T",
          "hgvs_p": "p.Cys1526Cys",
          "transcript": "ENST00000645407.1",
          "protein_id": "ENSP00000496252.1",
          "transcript_support_level": null,
          "aa_start": 1526,
          "aa_end": null,
          "aa_length": 1589,
          "cds_start": 4578,
          "cds_end": null,
          "cds_length": 4770,
          "cdna_start": 4585,
          "cdna_end": null,
          "cdna_length": 5010,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
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      "splice_score_selected": 0,
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      "splice_source_selected": "max_spliceai",
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      "bayesdelnoaf_score": -0.51,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -2.145,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
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      "acmg_score": -11,
      "acmg_classification": "Benign",
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      "acmg_by_gene": [
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            "BP7",
            "BS2"
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          "verdict": "Benign",
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          "verdict": "Likely_benign",
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          "inheritance_mode": "",
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      "clinvar_disease": "Familial focal epilepsy with variable foci",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "Familial focal epilepsy with variable foci",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
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  ],
  "message": null
}