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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: 10-14898695-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=14898695&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 14898695,
      "ref": "C",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000354919.11",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "c.*469G>C",
          "hgvs_p": null,
          "transcript": "ENST00000378289.8",
          "protein_id": "ENSP00000367538.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 434,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1305,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3532,
          "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": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SUV39H2",
          "gene_hgnc_id": 17287,
          "hgvs_c": "c.850-844C>G",
          "hgvs_p": null,
          "transcript": "NM_001193424.2",
          "protein_id": "NP_001180353.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 410,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1233,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3059,
          "mane_select": "ENST00000354919.11",
          "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": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SUV39H2",
          "gene_hgnc_id": 17287,
          "hgvs_c": "c.850-844C>G",
          "hgvs_p": null,
          "transcript": "ENST00000354919.11",
          "protein_id": "ENSP00000346997.6",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 410,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1233,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3059,
          "mane_select": "NM_001193424.2",
          "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": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SUV39H2",
          "gene_hgnc_id": 17287,
          "hgvs_c": "c.670-844C>G",
          "hgvs_p": null,
          "transcript": "ENST00000313519.9",
          "protein_id": "ENSP00000319208.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 350,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1053,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3087,
          "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": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SUV39H2",
          "gene_hgnc_id": 17287,
          "hgvs_c": "c.310-844C>G",
          "hgvs_p": null,
          "transcript": "ENST00000378325.7",
          "protein_id": "ENSP00000367576.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 230,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 693,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1292,
          "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": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SUV39H2",
          "gene_hgnc_id": 17287,
          "hgvs_c": "n.*566-844C>G",
          "hgvs_p": null,
          "transcript": "ENST00000378331.5",
          "protein_id": "ENSP00000367582.5",
          "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": 2959,
          "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": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*1960G>C",
          "hgvs_p": null,
          "transcript": "ENST00000456122.2",
          "protein_id": "ENSP00000413180.3",
          "transcript_support_level": 5,
          "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": 3883,
          "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": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*2320G>C",
          "hgvs_p": null,
          "transcript": "ENST00000697071.1",
          "protein_id": "ENSP00000513086.1",
          "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": 2985,
          "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": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*1412G>C",
          "hgvs_p": null,
          "transcript": "ENST00000697072.1",
          "protein_id": "ENSP00000513087.1",
          "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": 2850,
          "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": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*2178G>C",
          "hgvs_p": null,
          "transcript": "ENST00000697073.1",
          "protein_id": "ENSP00000513088.2",
          "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,
          "cdna_end": null,
          "cdna_length": 2793,
          "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": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*2425G>C",
          "hgvs_p": null,
          "transcript": "ENST00000697074.1",
          "protein_id": "ENSP00000513089.2",
          "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,
          "cdna_end": null,
          "cdna_length": 2989,
          "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": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.2767G>C",
          "hgvs_p": null,
          "transcript": "NR_146960.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3898,
          "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": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "c.*469G>C",
          "hgvs_p": null,
          "transcript": "ENST00000697070.1",
          "protein_id": "ENSP00000513085.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 725,
          "cds_start": -4,
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          "cds_length": 2178,
          "cdna_start": null,
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          "cdna_length": 3167,
          "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": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "c.*555G>C",
          "hgvs_p": null,
          "transcript": "NM_001350965.2",
          "protein_id": "NP_001337894.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 614,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": null,
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          "cdna_length": 3822,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "DCLRE1C",
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          "hgvs_c": "c.*555G>C",
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          "transcript": "ENST00000697047.1",
          "protein_id": "ENSP00000513066.1",
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        {
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          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
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          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "c.*555G>C",
          "hgvs_p": null,
          "transcript": "NM_001350966.2",
          "protein_id": "NP_001337895.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 499,
          "cds_start": -4,
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          "cds_length": 1500,
          "cdna_start": null,
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          "cdna_length": 3714,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "c.*555G>C",
          "hgvs_p": null,
          "transcript": "NM_001350967.2",
          "protein_id": "NP_001337896.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": 1485,
          "cdna_start": null,
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          "cdna_length": 3907,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*1960G>C",
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          "transcript": "ENST00000456122.2",
          "protein_id": "ENSP00000413180.3",
          "transcript_support_level": 5,
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        },
        {
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          "strand": false,
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          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*2320G>C",
          "hgvs_p": null,
          "transcript": "ENST00000697071.1",
          "protein_id": "ENSP00000513086.1",
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*1412G>C",
          "hgvs_p": null,
          "transcript": "ENST00000697072.1",
          "protein_id": "ENSP00000513087.1",
          "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": 2850,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*2178G>C",
          "hgvs_p": null,
          "transcript": "ENST00000697073.1",
          "protein_id": "ENSP00000513088.2",
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      "gene_symbol": "SUV39H2",
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      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
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      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
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      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8500000238418579,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.85,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.058,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
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      "acmg_by_gene": [
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          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
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          "verdict": "Likely_benign",
          "transcript": "ENST00000354919.11",
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        {
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          "pathogenic_score": 2,
          "criteria": [
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            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NR_146960.1",
          "gene_symbol": "DCLRE1C",
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          "inheritance_mode": "AR",
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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
}