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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: 7-140739920-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=140739920&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
  "variants": [
    {
      "chr": "7",
      "pos": 140739920,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000646891.2",
      "consequences": [
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2139C>T",
          "hgvs_p": "p.Tyr713Tyr",
          "transcript": "NM_001374258.1",
          "protein_id": "NP_001361187.1",
          "transcript_support_level": null,
          "aa_start": 713,
          "aa_end": null,
          "aa_length": 807,
          "cds_start": 2139,
          "cds_end": null,
          "cds_length": 2424,
          "cdna_start": 2365,
          "cdna_end": null,
          "cdna_length": 9807,
          "mane_select": null,
          "mane_plus": "ENST00000644969.2",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2139C>T",
          "hgvs_p": "p.Tyr713Tyr",
          "transcript": "ENST00000644969.2",
          "protein_id": "ENSP00000496776.1",
          "transcript_support_level": null,
          "aa_start": 713,
          "aa_end": null,
          "aa_length": 807,
          "cds_start": 2139,
          "cds_end": null,
          "cds_length": 2424,
          "cdna_start": 2365,
          "cdna_end": null,
          "cdna_length": 9807,
          "mane_select": null,
          "mane_plus": "NM_001374258.1",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2019C>T",
          "hgvs_p": "p.Tyr673Tyr",
          "transcript": "NM_004333.6",
          "protein_id": "NP_004324.2",
          "transcript_support_level": null,
          "aa_start": 673,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 2019,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 2245,
          "cdna_end": null,
          "cdna_length": 6459,
          "mane_select": "ENST00000646891.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2019C>T",
          "hgvs_p": "p.Tyr673Tyr",
          "transcript": "ENST00000646891.2",
          "protein_id": "ENSP00000493543.1",
          "transcript_support_level": null,
          "aa_start": 673,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 2019,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 2245,
          "cdna_end": null,
          "cdna_length": 6459,
          "mane_select": "NM_004333.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2139C>T",
          "hgvs_p": "p.Tyr713Tyr",
          "transcript": "ENST00000288602.11",
          "protein_id": "ENSP00000288602.7",
          "transcript_support_level": 1,
          "aa_start": 713,
          "aa_end": null,
          "aa_length": 806,
          "cds_start": 2139,
          "cds_end": null,
          "cds_length": 2421,
          "cdna_start": 2168,
          "cdna_end": null,
          "cdna_length": 2561,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2139C>T",
          "hgvs_p": "p.Tyr713Tyr",
          "transcript": "NM_001374244.1",
          "protein_id": "NP_001361173.1",
          "transcript_support_level": null,
          "aa_start": 713,
          "aa_end": null,
          "aa_length": 806,
          "cds_start": 2139,
          "cds_end": null,
          "cds_length": 2421,
          "cdna_start": 2365,
          "cdna_end": null,
          "cdna_length": 6579,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2028C>T",
          "hgvs_p": "p.Tyr676Tyr",
          "transcript": "NM_001378467.1",
          "protein_id": "NP_001365396.1",
          "transcript_support_level": null,
          "aa_start": 676,
          "aa_end": null,
          "aa_length": 770,
          "cds_start": 2028,
          "cds_end": null,
          "cds_length": 2313,
          "cdna_start": 2254,
          "cdna_end": null,
          "cdna_length": 9696,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2019C>T",
          "hgvs_p": "p.Tyr673Tyr",
          "transcript": "NM_001354609.2",
          "protein_id": "NP_001341538.1",
          "transcript_support_level": null,
          "aa_start": 673,
          "aa_end": null,
          "aa_length": 767,
          "cds_start": 2019,
          "cds_end": null,
          "cds_length": 2304,
          "cdna_start": 2245,
          "cdna_end": null,
          "cdna_length": 9687,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2019C>T",
          "hgvs_p": "p.Tyr673Tyr",
          "transcript": "ENST00000496384.7",
          "protein_id": "ENSP00000419060.2",
          "transcript_support_level": 5,
          "aa_start": 673,
          "aa_end": null,
          "aa_length": 767,
          "cds_start": 2019,
          "cds_end": null,
          "cds_length": 2304,
          "cdna_start": 2126,
          "cdna_end": null,
          "cdna_length": 9578,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2019C>T",
          "hgvs_p": "p.Tyr673Tyr",
          "transcript": "NM_001378468.1",
          "protein_id": "NP_001365397.1",
          "transcript_support_level": null,
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          "cds_start": 2019,
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          "cdna_start": 2245,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
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          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "BRAF",
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          "hgvs_c": "c.1953C>T",
          "hgvs_p": "p.Tyr651Tyr",
          "transcript": "NM_001378469.1",
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          "cds_start": 1953,
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          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
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          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
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          "hgvs_p": "p.Tyr639Tyr",
          "transcript": "NM_001378470.1",
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        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 16,
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          "gene_symbol": "BRAF",
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          "transcript": "NM_001378471.1",
          "protein_id": "NP_001365400.1",
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          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1863C>T",
          "hgvs_p": "p.Tyr621Tyr",
          "transcript": "NM_001378472.1",
          "protein_id": "NP_001365401.1",
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        },
        {
          "aa_ref": "Y",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "BRAF",
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          "hgvs_c": "c.1863C>T",
          "hgvs_p": "p.Tyr621Tyr",
          "transcript": "NM_001378473.1",
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2019C>T",
          "hgvs_p": "p.Tyr673Tyr",
          "transcript": "NM_001378474.1",
          "protein_id": "NP_001365403.1",
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          "cds_start": 2019,
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          "cdna_start": 2245,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1755C>T",
          "hgvs_p": "p.Tyr585Tyr",
          "transcript": "NM_001378475.1",
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        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
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          "intron_rank": null,
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          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.2139C>T",
          "hgvs_p": "p.Tyr713Tyr",
          "transcript": "XM_017012559.2",
          "protein_id": "XP_016868048.1",
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          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
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          "intron_rank": null,
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          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1983C>T",
          "hgvs_p": "p.Tyr661Tyr",
          "transcript": "XM_047420766.1",
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          "cdna_start": 2084,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRAF",
          "gene_hgnc_id": 1097,
          "hgvs_c": "c.1305C>T",
          "hgvs_p": "p.Tyr435Tyr",
          "transcript": "XM_047420770.1",
          "protein_id": "XP_047276726.1",
          "transcript_support_level": null,
          "aa_start": 435,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": 1305,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": 1703,
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          "cdna_length": 9145,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
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      "computational_source_selected": "REVEL",
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      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "revel_prediction": "Benign",
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      "bayesdelnoaf_score": -0.45,
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      "phylop100way_score": 3.364,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
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      "acmg_classification": "Benign",
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      "acmg_by_gene": [
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          "verdict": "Benign",
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      "clinvar_disease": "Cardiovascular phenotype,RASopathy",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:2",
      "phenotype_combined": "RASopathy|Cardiovascular phenotype",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
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  ],
  "message": null
}