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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: 1-70249410-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=70249410&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 70249410,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000370949.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SRSF11",
          "gene_hgnc_id": 10782,
          "hgvs_c": "n.1017G>C",
          "hgvs_p": null,
          "transcript": "ENST00000461935.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": 3501,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "SRSF11",
          "gene_hgnc_id": 10782,
          "hgvs_c": "c.1023-542G>C",
          "hgvs_p": null,
          "transcript": "NM_001350605.2",
          "protein_id": "NP_001337534.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 484,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1455,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3959,
          "mane_select": "ENST00000370949.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "SRSF11",
          "gene_hgnc_id": 10782,
          "hgvs_c": "c.1023-542G>C",
          "hgvs_p": null,
          "transcript": "ENST00000370949.2",
          "protein_id": "ENSP00000359987.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 484,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1455,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3959,
          "mane_select": "NM_001350605.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "SRSF11",
          "gene_hgnc_id": 10782,
          "hgvs_c": "c.1023-521G>C",
          "hgvs_p": null,
          "transcript": "ENST00000395136.7",
          "protein_id": "ENSP00000378568.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 491,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1476,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1717,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "SRSF11",
          "gene_hgnc_id": 10782,
          "hgvs_c": "c.1023-542G>C",
          "hgvs_p": null,
          "transcript": "ENST00000370950.7",
          "protein_id": "ENSP00000359988.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 484,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1455,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3784,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "SRSF11",
          "gene_hgnc_id": 10782,
          "hgvs_c": "c.1023-542G>C",
          "hgvs_p": null,
          "transcript": "ENST00000370951.5",
          "protein_id": "ENSP00000359989.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 483,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1452,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2385,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "SRSF11",
          "gene_hgnc_id": 10782,
          "hgvs_c": "n.2384-542G>C",
          "hgvs_p": null,
          "transcript": "ENST00000484162.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": 4008,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "SRSF11",
          "gene_hgnc_id": 10782,
          "hgvs_c": "c.1056-542G>C",
          "hgvs_p": null,
          "transcript": "NM_001394402.1",
          "protein_id": "NP_001381331.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 494,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1485,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3839,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "SRSF11",
          "gene_hgnc_id": 10782,
          "hgvs_c": "c.1056-542G>C",
          "hgvs_p": null,
          "transcript": "NM_001394403.1",
          "protein_id": "NP_001381332.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 494,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1485,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3989,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "SRSF11",
          "gene_hgnc_id": 10782,
          "hgvs_c": "c.1023-521G>C",
          "hgvs_p": null,
          "transcript": "NM_001350608.2",
          "protein_id": "NP_001337537.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 491,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1476,
          "cdna_start": null,
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          "cdna_length": 3833,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "SRSF11",
          "gene_hgnc_id": 10782,
          "hgvs_c": "c.1023-521G>C",
          "hgvs_p": null,
          "transcript": "NM_001394404.1",
          "protein_id": "NP_001381333.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 491,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3830,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "SRSF11",
          "gene_hgnc_id": 10782,
          "hgvs_c": "c.1023-521G>C",
          "hgvs_p": null,
          "transcript": "NM_001350609.2",
          "protein_id": "NP_001337538.1",
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          "aa_length": 490,
          "cds_start": -4,
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          "cdna_start": null,
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        {
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          "exon_count": 12,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "SRSF11",
          "gene_hgnc_id": 10782,
          "hgvs_c": "c.1023-521G>C",
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          "transcript": "NM_001394405.1",
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          "cds_start": -4,
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          "mane_select": null,
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        {
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          "intron_rank": 10,
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          "gene_symbol": "SRSF11",
          "gene_hgnc_id": 10782,
          "hgvs_c": "c.1023-542G>C",
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          "transcript": "NM_001350606.2",
          "protein_id": "NP_001337535.1",
          "transcript_support_level": null,
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          "aa_length": 484,
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          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          "gene_symbol": "SRSF11",
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          "gene_symbol": "SRSF11",
          "gene_hgnc_id": 10782,
          "hgvs_c": "c.1023-542G>C",
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          "transcript": "NM_004768.5",
          "protein_id": "NP_004759.1",
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          "intron_rank": 10,
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          "gene_symbol": "SRSF11",
          "gene_hgnc_id": 10782,
          "hgvs_c": "c.1023-542G>C",
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          "transcript": "NM_001190987.3",
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        {
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          "gene_symbol": "SRSF11",
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          "gene_symbol": "SRSF11",
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        },
        {
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          ],
          "exon_rank": null,
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          "exon_count": 13,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "SRSF11",
          "gene_hgnc_id": 10782,
          "hgvs_c": "c.453-521G>C",
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          "transcript": "NM_001350610.2",
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      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.99,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.546,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000370949.2",
          "gene_symbol": "SRSF11",
          "hgnc_id": 10782,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1023-542G>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}