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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: 3-123620185-GGCTGGAGAA-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=123620185&ref=GGCTGGAGAA&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 16,
          "criteria": [
            "BP6_Very_Strong",
            "BS1",
            "BS2"
          ],
          "effects": [
            "intron_variant"
          ],
          "gene_symbol": "MYLK",
          "hgnc_id": 7590,
          "hgvs_c": "c.5368+13_5368+21delTTCTCCAGC",
          "hgvs_p": null,
          "inheritance_mode": "AD,Unknown,AR",
          "pathogenic_score": 0,
          "score": -16,
          "transcript": "NM_053025.4",
          "verdict": "Benign"
        },
        {
          "benign_score": 12,
          "criteria": [
            "BP6_Very_Strong",
            "BS2"
          ],
          "effects": [
            "intron_variant"
          ],
          "gene_symbol": "MYLK-AS1",
          "hgnc_id": 42440,
          "hgvs_c": "n.274-9308_274-9300delGCTGGAGAA",
          "hgvs_p": null,
          "inheritance_mode": "",
          "pathogenic_score": 0,
          "score": -12,
          "transcript": "ENST00000470449.3",
          "verdict": "Benign"
        }
      ],
      "acmg_classification": "Benign",
      "acmg_criteria": "BP6_Very_Strong,BS1,BS2",
      "acmg_score": -16,
      "allele_count_reference_population": 10466,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "G",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": null,
      "bayesdelnoaf_score": null,
      "chr": "3",
      "clinvar_classification": "Benign/Likely benign",
      "clinvar_disease": " familial thoracic 7,Aortic aneurysm,Connective tissue disorder,not provided,not specified",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:1 B:4",
      "computational_prediction_selected": null,
      "computational_score_selected": null,
      "computational_source_selected": null,
      "consequences": [
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 1914,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 10113,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 5745,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 34,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_053025.4",
          "gene_hgnc_id": 7590,
          "gene_symbol": "MYLK",
          "hgvs_c": "c.5368+13_5368+21delTTCTCCAGC",
          "hgvs_p": null,
          "intron_rank": 32,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000360304.8",
          "protein_coding": true,
          "protein_id": "NP_444253.3",
          "strand": false,
          "transcript": "NM_053025.4",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 1914,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 10113,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 5745,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 34,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000360304.8",
          "gene_hgnc_id": 7590,
          "gene_symbol": "MYLK",
          "hgvs_c": "c.5368+13_5368+21delTTCTCCAGC",
          "hgvs_p": null,
          "intron_rank": 32,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_053025.4",
          "protein_coding": true,
          "protein_id": "ENSP00000353452.3",
          "strand": false,
          "transcript": "ENST00000360304.8",
          "transcript_support_level": 5
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 154,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 7282,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 465,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 3,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000418370.6",
          "gene_hgnc_id": 7590,
          "gene_symbol": "MYLK",
          "hgvs_c": "c.88+13_88+21delTTCTCCAGC",
          "hgvs_p": null,
          "intron_rank": 1,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000428967.1",
          "strand": false,
          "transcript": "ENST00000418370.6",
          "transcript_support_level": 1
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 82,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1628,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 249,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 3,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000578202.2",
          "gene_hgnc_id": 7590,
          "gene_symbol": "MYLK",
          "hgvs_c": "c.88+13_88+21delTTCTCCAGC",
          "hgvs_p": null,
          "intron_rank": 1,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000463691.2",
          "strand": false,
          "transcript": "ENST00000578202.2",
          "transcript_support_level": 1
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 76,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 6291,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 231,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 2,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000515434.1",
          "gene_hgnc_id": 7590,
          "gene_symbol": "MYLK",
          "hgvs_c": "c.88+13_88+21delTTCTCCAGC",
          "hgvs_p": null,
          "intron_rank": 1,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000509521.1",
          "strand": false,
          "transcript": "ENST00000515434.1",
          "transcript_support_level": 1
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "nonsense_mediated_decay",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 5901,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 33,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000464489.5",
          "gene_hgnc_id": 7590,
          "gene_symbol": "MYLK",
          "hgvs_c": "n.*4947+13_*4947+21delTTCTCCAGC",
          "hgvs_p": null,
          "intron_rank": 31,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": "ENSP00000417798.1",
          "strand": false,
          "transcript": "ENST00000464489.5",
          "transcript_support_level": 1
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1378,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 3,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000470449.3",
          "gene_hgnc_id": 42440,
          "gene_symbol": "MYLK-AS1",
          "hgvs_c": "n.274-9308_274-9300delGCTGGAGAA",
          "hgvs_p": null,
          "intron_rank": 1,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": true,
          "transcript": "ENST00000470449.3",
          "transcript_support_level": 1
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 1924,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 5956,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 5775,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 32,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000687848.1",
          "gene_hgnc_id": 7590,
          "gene_symbol": "MYLK",
          "hgvs_c": "c.5398+13_5398+21delTTCTCCAGC",
          "hgvs_p": null,
          "intron_rank": 30,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000508761.1",
          "strand": false,
          "transcript": "ENST00000687848.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 1914,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 6162,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 5745,
          "cds_start": null,
          "consequences": [
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          ],
          "exon_count": 32,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000686761.1",
          "gene_hgnc_id": 7590,
          "gene_symbol": "MYLK",
          "hgvs_c": "c.5368+13_5368+21delTTCTCCAGC",
          "hgvs_p": null,
          "intron_rank": 30,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000508758.1",
          "strand": false,
          "transcript": "ENST00000686761.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 1914,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 6117,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 5745,
          "cds_start": null,
          "consequences": [
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          ],
          "exon_count": 33,
          "exon_rank": null,
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          "feature": "ENST00000971487.1",
          "gene_hgnc_id": 7590,
          "gene_symbol": "MYLK",
          "hgvs_c": "c.5368+13_5368+21delTTCTCCAGC",
          "hgvs_p": null,
          "intron_rank": 31,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000641546.1",
          "strand": false,
          "transcript": "ENST00000971487.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 1914,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 6041,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 5745,
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          "consequences": [
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          ],
          "exon_count": 33,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000971488.1",
          "gene_hgnc_id": 7590,
          "gene_symbol": "MYLK",
          "hgvs_c": "c.5368+13_5368+21delTTCTCCAGC",
          "hgvs_p": null,
          "intron_rank": 31,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000641547.1",
          "strand": false,
          "transcript": "ENST00000971488.1",
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        },
        {
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          "aa_end": null,
          "aa_length": 1914,
          "aa_ref": null,
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          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 8025,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 5745,
          "cds_start": null,
          "consequences": [
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          ],
          "exon_count": 32,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000971489.1",
          "gene_hgnc_id": 7590,
          "gene_symbol": "MYLK",
          "hgvs_c": "c.5368+13_5368+21delTTCTCCAGC",
          "hgvs_p": null,
          "intron_rank": 30,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000641548.1",
          "strand": false,
          "transcript": "ENST00000971489.1",
          "transcript_support_level": null
        },
        {
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          "aa_end": null,
          "aa_length": 1914,
          "aa_ref": null,
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          "consequences": [
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          ],
          "exon_count": 32,
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          "feature": "ENST00000971490.1",
          "gene_hgnc_id": 7590,
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          "intron_rank": 30,
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          "mane_plus": null,
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          "protein_coding": true,
          "protein_id": "ENSP00000641549.1",
          "strand": false,
          "transcript": "ENST00000971490.1",
          "transcript_support_level": null
        },
        {
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          "aa_end": null,
          "aa_length": 1913,
          "aa_ref": null,
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          "biotype": "protein_coding",
          "canonical": false,
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          "cdna_length": 5783,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 5742,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 31,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000686406.1",
          "gene_hgnc_id": 7590,
          "gene_symbol": "MYLK",
          "hgvs_c": "c.5368+13_5368+21delTTCTCCAGC",
          "hgvs_p": null,
          "intron_rank": 29,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000509044.1",
          "strand": false,
          "transcript": "ENST00000686406.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 1863,
          "aa_ref": null,
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          "biotype": "protein_coding",
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          "cdna_length": 9960,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 5592,
          "cds_start": null,
          "consequences": [
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          ],
          "exon_count": 33,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_053027.4",
          "gene_hgnc_id": 7590,
          "gene_symbol": "MYLK",
          "hgvs_c": "c.5215+13_5215+21delTTCTCCAGC",
          "hgvs_p": null,
          "intron_rank": 31,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_444255.3",
          "strand": false,
          "transcript": "NM_053027.4",
          "transcript_support_level": null
        },
        {
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          "aa_length": 1863,
          "aa_ref": null,
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          "biotype": "protein_coding",
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          "cdna_length": 10027,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 5592,
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          "consequences": [
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          ],
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          "exon_rank": null,
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          "feature": "ENST00000360772.7",
          "gene_hgnc_id": 7590,
          "gene_symbol": "MYLK",
          "hgvs_c": "c.5215+13_5215+21delTTCTCCAGC",
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          "intron_rank": 32,
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          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000354004.3",
          "strand": false,
          "transcript": "ENST00000360772.7",
          "transcript_support_level": 5
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 1845,
          "aa_ref": null,
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          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 9906,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 5538,
          "cds_start": null,
          "consequences": [
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          ],
          "exon_count": 33,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_053026.4",
          "gene_hgnc_id": 7590,
          "gene_symbol": "MYLK",
          "hgvs_c": "c.5161+13_5161+21delTTCTCCAGC",
          "hgvs_p": null,
          "intron_rank": 31,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_444254.3",
          "strand": false,
          "transcript": "NM_053026.4",
          "transcript_support_level": null
        },
        {
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          "aa_length": 1845,
          "aa_ref": null,
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          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 7398,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 5538,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 33,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000693689.1",
          "gene_hgnc_id": 7590,
          "gene_symbol": "MYLK",
          "hgvs_c": "c.5161+13_5161+21delTTCTCCAGC",
          "hgvs_p": null,
          "intron_rank": 31,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000510503.1",
          "strand": false,
          "transcript": "ENST00000693689.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
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          "aa_ref": null,
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          "biotype": "protein_coding",
          "canonical": false,
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For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.