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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: 5-111729731-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=111729731&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 111729731,
      "ref": "T",
      "alt": "G",
      "effect": "3_prime_UTR_variant",
      "transcript": "ENST00000257435.12",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NREP",
          "gene_hgnc_id": 16834,
          "hgvs_c": "c.*1190A>C",
          "hgvs_p": null,
          "transcript": "NM_004772.4",
          "protein_id": "NP_004763.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 68,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 207,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1942,
          "mane_select": "ENST00000257435.12",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NREP",
          "gene_hgnc_id": 16834,
          "hgvs_c": "c.*1190A>C",
          "hgvs_p": null,
          "transcript": "ENST00000257435.12",
          "protein_id": "ENSP00000257435.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 68,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 207,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1942,
          "mane_select": "NM_004772.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NREP",
          "gene_hgnc_id": 16834,
          "hgvs_c": "c.*1190A>C",
          "hgvs_p": null,
          "transcript": "ENST00000379671.7",
          "protein_id": "ENSP00000368993.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 68,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 207,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2581,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NREP",
          "gene_hgnc_id": 16834,
          "hgvs_c": "c.*1190A>C",
          "hgvs_p": null,
          "transcript": "ENST00000447165.6",
          "protein_id": "ENSP00000408839.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 68,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 207,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2304,
          "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": 7,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "STARD4-AS1",
          "gene_hgnc_id": 44117,
          "hgvs_c": "n.1036+51T>G",
          "hgvs_p": null,
          "transcript": "ENST00000500779.2",
          "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": 5525,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NREP",
          "gene_hgnc_id": 16834,
          "hgvs_c": "n.81+5699A>C",
          "hgvs_p": null,
          "transcript": "ENST00000514515.5",
          "protein_id": "ENSP00000427595.1",
          "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": 3564,
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD4-AS1",
          "gene_hgnc_id": 44117,
          "hgvs_c": "n.2917T>G",
          "hgvs_p": null,
          "transcript": "ENST00000666013.1",
          "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": 4215,
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD4-AS1",
          "gene_hgnc_id": 44117,
          "hgvs_c": "n.1057T>G",
          "hgvs_p": null,
          "transcript": "ENST00000788276.1",
          "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": 2092,
          "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": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD4-AS1",
          "gene_hgnc_id": 44117,
          "hgvs_c": "n.831T>G",
          "hgvs_p": null,
          "transcript": "ENST00000788277.1",
          "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": 1866,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NREP",
          "gene_hgnc_id": 16834,
          "hgvs_c": "c.*1190A>C",
          "hgvs_p": null,
          "transcript": "NM_001142475.2",
          "protein_id": "NP_001135947.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 112,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 339,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2651,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NREP",
          "gene_hgnc_id": 16834,
          "hgvs_c": "c.*1190A>C",
          "hgvs_p": null,
          "transcript": "NM_001142474.2",
          "protein_id": "NP_001135946.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 102,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 309,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2621,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NREP",
          "gene_hgnc_id": 16834,
          "hgvs_c": "c.*1190A>C",
          "hgvs_p": null,
          "transcript": "NM_001142476.1",
          "protein_id": "NP_001135948.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 68,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2201,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NREP",
          "gene_hgnc_id": 16834,
          "hgvs_c": "c.*1190A>C",
          "hgvs_p": null,
          "transcript": "NM_001142477.1",
          "protein_id": "NP_001135949.1",
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          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
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          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NREP",
          "gene_hgnc_id": 16834,
          "hgvs_c": "c.*1190A>C",
          "hgvs_p": null,
          "transcript": "NM_001142478.2",
          "protein_id": "NP_001135950.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 68,
          "cds_start": -4,
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          "cds_length": 207,
          "cdna_start": null,
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          "cdna_length": 2596,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NREP",
          "gene_hgnc_id": 16834,
          "hgvs_c": "c.*1190A>C",
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          "transcript": "NM_001142479.1",
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 5,
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          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NREP",
          "gene_hgnc_id": 16834,
          "hgvs_c": "c.*1190A>C",
          "hgvs_p": null,
          "transcript": "NM_001142480.1",
          "protein_id": "NP_001135952.1",
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          "aa_start": null,
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          "aa_length": 68,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2099,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NREP",
          "gene_hgnc_id": 16834,
          "hgvs_c": "c.*1190A>C",
          "hgvs_p": null,
          "transcript": "NM_001142481.1",
          "protein_id": "NP_001135953.1",
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          "cds_start": -4,
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          "cdna_length": 2008,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "NREP",
          "gene_hgnc_id": 16834,
          "hgvs_c": "c.*1190A>C",
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          "transcript": "NM_001142482.1",
          "protein_id": "NP_001135954.1",
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        },
        {
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          "consequences": [
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          ],
          "exon_rank": 3,
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          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NREP",
          "gene_hgnc_id": 16834,
          "hgvs_c": "c.*1190A>C",
          "hgvs_p": null,
          "transcript": "NM_001142483.1",
          "protein_id": "NP_001135955.1",
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        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NREP",
          "gene_hgnc_id": 16834,
          "hgvs_c": "c.*1190A>C",
          "hgvs_p": null,
          "transcript": "ENST00000446294.6",
          "protein_id": "ENSP00000402965.2",
          "transcript_support_level": 2,
          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": 207,
          "cdna_start": null,
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          "cdna_length": 2065,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NREP",
          "gene_hgnc_id": 16834,
          "hgvs_c": "c.81+5699A>C",
          "hgvs_p": null,
          "transcript": "ENST00000509025.5",
          "protein_id": "ENSP00000426834.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 37,
          "cds_start": -4,
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      "gene_symbol": "NREP",
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      "gnomad_exomes_af": 0.179907,
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      "computational_score_selected": -0.23999999463558197,
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      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
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      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.24,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 2.442,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
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      "dbscsnv_ada_score": null,
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      "acmg_score": -10,
      "acmg_classification": "Benign",
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      "acmg_by_gene": [
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          "benign_score": 10,
          "pathogenic_score": 0,
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          "verdict": "Benign",
          "transcript": "ENST00000257435.12",
          "gene_symbol": "NREP",
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          "effects": [
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          "inheritance_mode": "",
          "hgvs_c": "c.*1190A>C",
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        {
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          "verdict": "Benign",
          "transcript": "ENST00000666013.1",
          "gene_symbol": "STARD4-AS1",
          "hgnc_id": 44117,
          "effects": [
            "non_coding_transcript_exon_variant"
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          "inheritance_mode": "",
          "hgvs_c": "n.2917T>G",
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}