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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: 14-102039203-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=102039203&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 102039203,
      "ref": "G",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "ENST00000360184.10",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 60,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.11409G>T",
          "hgvs_p": "p.Pro3803Pro",
          "transcript": "NM_001376.5",
          "protein_id": "NP_001367.2",
          "transcript_support_level": null,
          "aa_start": 3803,
          "aa_end": null,
          "aa_length": 4646,
          "cds_start": 11409,
          "cds_end": null,
          "cds_length": 13941,
          "cdna_start": 11528,
          "cdna_end": null,
          "cdna_length": 19940,
          "mane_select": "ENST00000360184.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 60,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.11409G>T",
          "hgvs_p": "p.Pro3803Pro",
          "transcript": "ENST00000360184.10",
          "protein_id": "ENSP00000348965.4",
          "transcript_support_level": 1,
          "aa_start": 3803,
          "aa_end": null,
          "aa_length": 4646,
          "cds_start": 11409,
          "cds_end": null,
          "cds_length": 13941,
          "cdna_start": 11528,
          "cdna_end": null,
          "cdna_length": 19940,
          "mane_select": "NM_001376.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 60,
          "exon_rank_end": null,
          "exon_count": 77,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.11409G>T",
          "hgvs_p": "p.Pro3803Pro",
          "transcript": "ENST00000681574.1",
          "protein_id": "ENSP00000505523.1",
          "transcript_support_level": null,
          "aa_start": 3803,
          "aa_end": null,
          "aa_length": 4672,
          "cds_start": 11409,
          "cds_end": null,
          "cds_length": 14019,
          "cdna_start": 11528,
          "cdna_end": null,
          "cdna_length": 14519,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 60,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.11409G>T",
          "hgvs_p": "p.Pro3803Pro",
          "transcript": "ENST00000679720.1",
          "protein_id": "ENSP00000505938.1",
          "transcript_support_level": null,
          "aa_start": 3803,
          "aa_end": null,
          "aa_length": 4637,
          "cds_start": 11409,
          "cds_end": null,
          "cds_length": 13914,
          "cdna_start": 11528,
          "cdna_end": null,
          "cdna_length": 19903,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 60,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.11409G>T",
          "hgvs_p": "p.Pro3803Pro",
          "transcript": "ENST00000644881.2",
          "protein_id": "ENSP00000495022.2",
          "transcript_support_level": null,
          "aa_start": 3803,
          "aa_end": null,
          "aa_length": 4604,
          "cds_start": 11409,
          "cds_end": null,
          "cds_length": 13815,
          "cdna_start": 11528,
          "cdna_end": null,
          "cdna_length": 14291,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 59,
          "exon_rank_end": null,
          "exon_count": 77,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "c.11262G>T",
          "hgvs_p": "p.Pro3754Pro",
          "transcript": "ENST00000645149.2",
          "protein_id": "ENSP00000495944.2",
          "transcript_support_level": null,
          "aa_start": 3754,
          "aa_end": null,
          "aa_length": 4597,
          "cds_start": 11262,
          "cds_end": null,
          "cds_length": 13794,
          "cdna_start": 11381,
          "cdna_end": null,
          "cdna_length": 14134,
          "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": 9,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.1363G>T",
          "hgvs_p": null,
          "transcript": "ENST00000643437.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 4773,
          "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": 8,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.1238G>T",
          "hgvs_p": null,
          "transcript": "ENST00000643829.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 4050,
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.1528G>T",
          "hgvs_p": null,
          "transcript": "ENST00000644794.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 4842,
          "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": 60,
          "exon_rank_end": null,
          "exon_count": 76,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.11409G>T",
          "hgvs_p": null,
          "transcript": "ENST00000645039.2",
          "protein_id": "ENSP00000495220.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 14031,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.2072G>T",
          "hgvs_p": null,
          "transcript": "ENST00000645697.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 3547,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.650G>T",
          "hgvs_p": null,
          "transcript": "ENST00000647204.2",
          "protein_id": null,
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        },
        {
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          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
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          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.4963G>T",
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          "transcript": "ENST00000647366.1",
          "protein_id": null,
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        {
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          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 60,
          "exon_rank_end": null,
          "exon_count": 71,
          "intron_rank": null,
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          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.11409G>T",
          "hgvs_p": null,
          "transcript": "ENST00000679486.1",
          "protein_id": "ENSP00000506688.1",
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          "mane_select": null,
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        {
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            "non_coding_transcript_exon_variant"
          ],
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        {
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          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 60,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
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          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.*2491G>T",
          "hgvs_p": null,
          "transcript": "ENST00000679910.1",
          "protein_id": "ENSP00000506521.1",
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        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 60,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
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          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.11409G>T",
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          "transcript": "ENST00000680120.1",
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        {
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          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
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          "exon_count": 78,
          "intron_rank": null,
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          "gene_symbol": "DYNC1H1",
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          "hgvs_c": "n.*668G>T",
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
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          "gene_symbol": "DYNC1H1",
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          "hgvs_c": "n.11409G>T",
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          "transcript": "ENST00000680313.1",
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          "mane_select": null,
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 60,
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          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.*3140G>T",
          "hgvs_p": null,
          "transcript": "ENST00000680423.1",
          "protein_id": "ENSP00000505483.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 14201,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 60,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC1H1",
          "gene_hgnc_id": 2961,
          "hgvs_c": "n.11409G>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": -15,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1,BS2",
      "acmg_by_gene": [
        {
          "score": -15,
          "benign_score": 15,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Moderate",
            "BP7",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000360184.10",
          "gene_symbol": "DYNC1H1",
          "hgnc_id": 2961,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.11409G>T",
          "hgvs_p": "p.Pro3803Pro"
        },
        {
          "score": -4,
          "benign_score": 6,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Moderate"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000553701.1",
          "gene_symbol": "ENSG00000293472",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.347-2434C>A",
          "hgvs_p": null
        },
        {
          "score": -4,
          "benign_score": 6,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Moderate"
          ],
          "verdict": "Likely_benign",
          "transcript": "XR_001750903.2",
          "gene_symbol": "LOC107984661",
          "hgnc_id": null,
          "effects": [
            "upstream_gene_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.-166C>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2O",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "Charcot-Marie-Tooth disease axonal type 2O",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}