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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: 2-27092383-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27092383&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 27092383,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_000221.3",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "NM_006488.3",
          "protein_id": "NP_006479.1",
          "transcript_support_level": null,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 298,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 897,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000260598.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006488.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "ENST00000260598.10",
          "protein_id": "ENSP00000260598.5",
          "transcript_support_level": 2,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 298,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 897,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_006488.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000260598.10"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "ENST00000260599.11",
          "protein_id": "ENSP00000260599.6",
          "transcript_support_level": 1,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 298,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 897,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000260599.11"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "ENST00000908283.1",
          "protein_id": "ENSP00000578342.1",
          "transcript_support_level": null,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 381,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 1146,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000908283.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "ENST00000908272.1",
          "protein_id": "ENSP00000578331.1",
          "transcript_support_level": null,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000908272.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "ENST00000429697.2",
          "protein_id": "ENSP00000404741.2",
          "transcript_support_level": 5,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 343,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 1032,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000429697.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "ENST00000908284.1",
          "protein_id": "ENSP00000578343.1",
          "transcript_support_level": null,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 342,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 1029,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000908284.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "ENST00000908277.1",
          "protein_id": "ENSP00000578336.1",
          "transcript_support_level": null,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 336,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 1011,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000908277.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "ENST00000908281.1",
          "protein_id": "ENSP00000578340.1",
          "transcript_support_level": null,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 336,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 1011,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000908281.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "ENST00000908280.1",
          "protein_id": "ENSP00000578339.1",
          "transcript_support_level": null,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 305,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 918,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000908280.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "ENST00000908274.1",
          "protein_id": "ENSP00000578333.1",
          "transcript_support_level": null,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 299,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 900,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000908274.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "NM_000221.3",
          "protein_id": "NP_000212.1",
          "transcript_support_level": null,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 298,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 897,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000221.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "ENST00000968341.1",
          "protein_id": "ENSP00000638400.1",
          "transcript_support_level": null,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 298,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 897,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000968341.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "ENST00000908279.1",
          "protein_id": "ENSP00000578338.1",
          "transcript_support_level": null,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 297,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 894,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000908279.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "ENST00000908285.1",
          "protein_id": "ENSP00000578344.1",
          "transcript_support_level": null,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 297,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 894,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000908285.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "ENST00000908286.1",
          "protein_id": "ENSP00000578345.1",
          "transcript_support_level": null,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 297,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 894,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000908286.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "ENST00000908287.1",
          "protein_id": "ENSP00000578346.1",
          "transcript_support_level": null,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 297,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 894,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000908287.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "ENST00000908282.1",
          "protein_id": "ENSP00000578341.1",
          "transcript_support_level": null,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 291,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 876,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000908282.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "ENST00000908278.1",
          "protein_id": "ENSP00000578337.1",
          "transcript_support_level": null,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000908278.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KHK",
          "gene_hgnc_id": 6315,
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr",
          "transcript": "ENST00000908273.1",
          "protein_id": "ENSP00000578332.1",
          "transcript_support_level": null,
          "aa_start": 48,
          "aa_end": null,
          "aa_length": 253,
          "cds_start": 144,
          "cds_end": null,
          "cds_length": 762,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000908273.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
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      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -6,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Strong,BP6,BP7",
      "acmg_by_gene": [
        {
          "score": -6,
          "benign_score": 6,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_000221.3",
          "gene_symbol": "KHK",
          "hgnc_id": 6315,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.144C>T",
          "hgvs_p": "p.Thr48Thr"
        }
      ],
      "clinvar_disease": "KHK-related disorder",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "KHK-related disorder",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}