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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: 17-80208183-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=80208183&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 80208183,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000648509.2",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.2853G>A",
          "hgvs_p": "p.Glu951Glu",
          "transcript": "NM_001366385.1",
          "protein_id": "NP_001353314.1",
          "transcript_support_level": null,
          "aa_start": 951,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 2853,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 3569,
          "cdna_end": null,
          "cdna_length": 4717,
          "mane_select": "ENST00000648509.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.2853G>A",
          "hgvs_p": "p.Glu951Glu",
          "transcript": "ENST00000648509.2",
          "protein_id": "ENSP00000498071.1",
          "transcript_support_level": null,
          "aa_start": 951,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 2853,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 3569,
          "cdna_end": null,
          "cdna_length": 4717,
          "mane_select": "NM_001366385.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.2853G>A",
          "hgvs_p": "p.Glu951Glu",
          "transcript": "ENST00000344227.6",
          "protein_id": "ENSP00000344549.2",
          "transcript_support_level": 1,
          "aa_start": 951,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 2853,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 3021,
          "cdna_end": null,
          "cdna_length": 4147,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.2880G>A",
          "hgvs_p": "p.Glu960Glu",
          "transcript": "ENST00000651672.1",
          "protein_id": "ENSP00000499145.1",
          "transcript_support_level": null,
          "aa_start": 960,
          "aa_end": null,
          "aa_length": 1013,
          "cds_start": 2880,
          "cds_end": null,
          "cds_length": 3042,
          "cdna_start": 3328,
          "cdna_end": null,
          "cdna_length": 4475,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.2853G>A",
          "hgvs_p": "p.Glu951Glu",
          "transcript": "NM_024110.4",
          "protein_id": "NP_077015.2",
          "transcript_support_level": null,
          "aa_start": 951,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 2853,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 3021,
          "cdna_end": null,
          "cdna_length": 4169,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.2853G>A",
          "hgvs_p": "p.Glu951Glu",
          "transcript": "ENST00000571427.2",
          "protein_id": "ENSP00000516501.1",
          "transcript_support_level": 5,
          "aa_start": 951,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 2853,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 3584,
          "cdna_end": null,
          "cdna_length": 4732,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.2853G>A",
          "hgvs_p": "p.Glu951Glu",
          "transcript": "ENST00000573882.5",
          "protein_id": "ENSP00000458715.1",
          "transcript_support_level": 5,
          "aa_start": 951,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 2853,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 3389,
          "cdna_end": null,
          "cdna_length": 4537,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.2853G>A",
          "hgvs_p": "p.Glu951Glu",
          "transcript": "XM_011525213.2",
          "protein_id": "XP_011523515.1",
          "transcript_support_level": null,
          "aa_start": 951,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 2853,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 3246,
          "cdna_end": null,
          "cdna_length": 4394,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.2853G>A",
          "hgvs_p": "p.Glu951Glu",
          "transcript": "XM_011525216.2",
          "protein_id": "XP_011523518.1",
          "transcript_support_level": null,
          "aa_start": 951,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 2853,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 3048,
          "cdna_end": null,
          "cdna_length": 4196,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.2853G>A",
          "hgvs_p": "p.Glu951Glu",
          "transcript": "XM_011525218.2",
          "protein_id": "XP_011523520.1",
          "transcript_support_level": null,
          "aa_start": 951,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 2853,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 3083,
          "cdna_end": null,
          "cdna_length": 4231,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
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          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.2853G>A",
          "hgvs_p": "p.Glu951Glu",
          "transcript": "XM_047436713.1",
          "protein_id": "XP_047292669.1",
          "transcript_support_level": null,
          "aa_start": 951,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 2853,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 3326,
          "cdna_end": null,
          "cdna_length": 4474,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
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          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.2853G>A",
          "hgvs_p": "p.Glu951Glu",
          "transcript": "XM_047436714.1",
          "protein_id": "XP_047292670.1",
          "transcript_support_level": null,
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          "cds_start": 2853,
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          "cdna_start": 3308,
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          "mane_select": null,
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        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.2853G>A",
          "hgvs_p": "p.Glu951Glu",
          "transcript": "XM_047436715.1",
          "protein_id": "XP_047292671.1",
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          "cds_start": 2853,
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          "cdna_start": 3344,
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        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.2853G>A",
          "hgvs_p": "p.Glu951Glu",
          "transcript": "XM_047436716.1",
          "protein_id": "XP_047292672.1",
          "transcript_support_level": null,
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          "cds_start": 2853,
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          "cdna_start": 3228,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          ],
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          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.2853G>A",
          "hgvs_p": "p.Glu951Glu",
          "transcript": "XM_047436717.1",
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          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.2850G>A",
          "hgvs_p": "p.Glu950Glu",
          "transcript": "XM_047436718.1",
          "protein_id": "XP_047292674.1",
          "transcript_support_level": null,
          "aa_start": 950,
          "aa_end": null,
          "aa_length": 1003,
          "cds_start": 2850,
          "cds_end": null,
          "cds_length": 3012,
          "cdna_start": 3018,
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          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "n.*1313G>A",
          "hgvs_p": null,
          "transcript": "ENST00000575500.5",
          "protein_id": "ENSP00000460883.1",
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
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          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "n.1610G>A",
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "n.*298G>A",
          "hgvs_p": null,
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          "protein_id": "ENSP00000498570.1",
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          "cdna_length": 4082,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "n.*1212G>A",
          "hgvs_p": null,
          "transcript": "ENST00000651068.1",
          "protein_id": "ENSP00000498274.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
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          "cdna_length": 3838,
          "mane_select": null,
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          "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": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
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          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000648509.2",
          "gene_symbol": "CARD14",
          "hgnc_id": 16446,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.2853G>A",
          "hgvs_p": "p.Glu951Glu"
        },
        {
          "score": -20,
          "benign_score": 20,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000575484.1",
          "gene_symbol": "SGSH",
          "hgnc_id": 10818,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "n.138-498C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Autoinflammatory syndrome,CARD14-related disorder,Pityriasis rubra pilaris,Psoriasis 2,not provided",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:4",
      "phenotype_combined": "Pityriasis rubra pilaris;Psoriasis 2|not provided|Autoinflammatory syndrome|CARD14-related disorder",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}