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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: 1-111760815-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=111760815&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 111760815,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_007204.5",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "c.790G>A",
          "hgvs_p": "p.Val264Ile",
          "transcript": "NM_007204.5",
          "protein_id": "NP_009135.4",
          "transcript_support_level": null,
          "aa_start": 264,
          "aa_end": null,
          "aa_length": 824,
          "cds_start": 790,
          "cds_end": null,
          "cds_length": 2475,
          "cdna_start": 814,
          "cdna_end": null,
          "cdna_length": 3600,
          "mane_select": "ENST00000369702.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "c.790G>A",
          "hgvs_p": "p.Val264Ile",
          "transcript": "ENST00000369702.5",
          "protein_id": "ENSP00000358716.4",
          "transcript_support_level": 1,
          "aa_start": 264,
          "aa_end": null,
          "aa_length": 824,
          "cds_start": 790,
          "cds_end": null,
          "cds_length": 2475,
          "cdna_start": 814,
          "cdna_end": null,
          "cdna_length": 3600,
          "mane_select": "NM_007204.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "c.790G>A",
          "hgvs_p": "p.Val264Ile",
          "transcript": "ENST00000679724.1",
          "protein_id": "ENSP00000505857.1",
          "transcript_support_level": null,
          "aa_start": 264,
          "aa_end": null,
          "aa_length": 824,
          "cds_start": 790,
          "cds_end": null,
          "cds_length": 2475,
          "cdna_start": 882,
          "cdna_end": null,
          "cdna_length": 4658,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "c.790G>A",
          "hgvs_p": "p.Val264Ile",
          "transcript": "ENST00000680627.1",
          "protein_id": "ENSP00000505758.1",
          "transcript_support_level": null,
          "aa_start": 264,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 790,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": 812,
          "cdna_end": null,
          "cdna_length": 3322,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "c.739G>A",
          "hgvs_p": "p.Val247Ile",
          "transcript": "ENST00000680518.1",
          "protein_id": "ENSP00000506543.1",
          "transcript_support_level": null,
          "aa_start": 247,
          "aa_end": null,
          "aa_length": 423,
          "cds_start": 739,
          "cds_end": null,
          "cds_length": 1272,
          "cdna_start": 785,
          "cdna_end": null,
          "cdna_length": 2817,
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "n.302G>A",
          "hgvs_p": null,
          "transcript": "ENST00000475700.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 4332,
          "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": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "n.297G>A",
          "hgvs_p": null,
          "transcript": "ENST00000524894.2",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 894,
          "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": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "n.*204G>A",
          "hgvs_p": null,
          "transcript": "ENST00000533164.6",
          "protein_id": "ENSP00000434085.1",
          "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": 3226,
          "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": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "n.978G>A",
          "hgvs_p": null,
          "transcript": "ENST00000534200.2",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 4697,
          "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": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "n.812G>A",
          "hgvs_p": null,
          "transcript": "ENST00000679381.1",
          "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": 3422,
          "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": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "n.978G>A",
          "hgvs_p": null,
          "transcript": "ENST00000679498.1",
          "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,
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          "cdna_length": 7416,
          "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": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "n.*204G>A",
          "hgvs_p": null,
          "transcript": "ENST00000679576.1",
          "protein_id": "ENSP00000506357.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "n.983G>A",
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        {
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          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "n.812G>A",
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          "mane_select": null,
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        {
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          "canonical": false,
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          "strand": true,
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          ],
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          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX20",
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        {
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          "strand": true,
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          ],
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "n.790G>A",
          "hgvs_p": null,
          "transcript": "ENST00000680383.1",
          "protein_id": "ENSP00000505119.1",
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "n.812G>A",
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        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "DDX20",
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          "hgvs_c": "n.790G>A",
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          "intron_rank": null,
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          "gene_symbol": "DDX20",
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          "hgvs_c": "n.521G>A",
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          "consequences": [
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "DDX20",
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          "hgvs_c": "n.812G>A",
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          "biotype": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "n.790G>A",
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          "transcript": "ENST00000681559.1",
          "protein_id": "ENSP00000506100.1",
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          "cdna_length": 5375,
          "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": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "n.682G>A",
          "hgvs_p": null,
          "transcript": "ENST00000681747.1",
          "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": 3818,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "n.*204G>A",
          "hgvs_p": null,
          "transcript": "ENST00000533164.6",
          "protein_id": "ENSP00000434085.1",
          "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": 3226,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX20",
          "gene_hgnc_id": 2743,
          "hgvs_c": "n.*204G>A",
          "hgvs_p": null,
          "transcript": "ENST00000679576.1",
          "protein_id": "ENSP00000506357.1",
          "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": 3153,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "DDX20",
      "gene_hgnc_id": 2743,
      "dbsnp": null,
      "frequency_reference_population": 0.0000020532784,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 3,
      "gnomad_exomes_af": 0.00000205328,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 3,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.40168771147727966,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.191,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0908,
      "alphamissense_prediction": "Benign",
      "bayesdelnoaf_score": -0.38,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 9.374,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0.01,
      "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": 1,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4",
      "acmg_by_gene": [
        {
          "score": 1,
          "benign_score": 1,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_007204.5",
          "gene_symbol": "DDX20",
          "hgnc_id": 2743,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.790G>A",
          "hgvs_p": "p.Val264Ile"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}