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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: 22-38112142-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38112142&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 38112142,
      "ref": "G",
      "alt": "T",
      "effect": "3_prime_UTR_variant",
      "transcript": "ENST00000332509.8",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "c.*19C>A",
          "hgvs_p": null,
          "transcript": "NM_003560.4",
          "protein_id": "NP_003551.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 806,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2421,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3299,
          "mane_select": "ENST00000332509.8",
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "c.*19C>A",
          "hgvs_p": null,
          "transcript": "ENST00000332509.8",
          "protein_id": "ENSP00000333142.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 806,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2421,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3299,
          "mane_select": "NM_003560.4",
          "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": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "c.*19C>A",
          "hgvs_p": null,
          "transcript": "ENST00000402064.5",
          "protein_id": "ENSP00000386100.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 752,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2259,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3011,
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "n.516C>A",
          "hgvs_p": null,
          "transcript": "ENST00000463287.1",
          "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": 786,
          "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": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "n.*1298C>A",
          "hgvs_p": null,
          "transcript": "ENST00000655142.1",
          "protein_id": "ENSP00000499715.1",
          "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": 2870,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "n.*2179C>A",
          "hgvs_p": null,
          "transcript": "ENST00000665987.1",
          "protein_id": "ENSP00000499423.1",
          "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": 2807,
          "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": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "n.*2299C>A",
          "hgvs_p": null,
          "transcript": "ENST00000668499.1",
          "protein_id": "ENSP00000499626.1",
          "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": 3283,
          "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": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "n.2372C>A",
          "hgvs_p": null,
          "transcript": "ENST00000671093.1",
          "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": 2638,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "n.*2109C>A",
          "hgvs_p": null,
          "transcript": "ENST00000673413.1",
          "protein_id": "ENSP00000500600.1",
          "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": 2760,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "c.*19C>A",
          "hgvs_p": null,
          "transcript": "ENST00000668949.1",
          "protein_id": "ENSP00000499711.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 820,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2463,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2830,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "c.*19C>A",
          "hgvs_p": null,
          "transcript": "NM_001349864.2",
          "protein_id": "NP_001336793.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 806,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2421,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3295,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "c.*19C>A",
          "hgvs_p": null,
          "transcript": "ENST00000660610.1",
          "protein_id": "ENSP00000499555.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "c.*19C>A",
          "hgvs_p": null,
          "transcript": "ENST00000663895.1",
          "protein_id": "ENSP00000499712.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 806,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3171,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "c.*19C>A",
          "hgvs_p": null,
          "transcript": "ENST00000667521.1",
          "protein_id": "ENSP00000499665.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 806,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2421,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2813,
          "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": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "c.*19C>A",
          "hgvs_p": null,
          "transcript": "ENST00000664587.1",
          "protein_id": "ENSP00000499394.1",
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          "cdna_start": null,
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          "cdna_length": 2959,
          "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": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "c.*19C>A",
          "hgvs_p": null,
          "transcript": "NM_001004426.3",
          "protein_id": "NP_001004426.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 752,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2259,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3137,
          "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": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "c.*19C>A",
          "hgvs_p": null,
          "transcript": "NM_001199562.3",
          "protein_id": "NP_001186491.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3017,
          "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": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "c.*19C>A",
          "hgvs_p": null,
          "transcript": "NM_001349865.2",
          "protein_id": "NP_001336794.1",
          "transcript_support_level": null,
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          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
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          "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": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "c.*19C>A",
          "hgvs_p": null,
          "transcript": "NM_001349866.2",
          "protein_id": "NP_001336795.1",
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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"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "c.*19C>A",
          "hgvs_p": null,
          "transcript": "ENST00000335539.7",
          "protein_id": "ENSP00000335149.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 752,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2259,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3060,
          "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": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLA2G6",
          "gene_hgnc_id": 9039,
          "hgvs_c": "c.*19C>A",
          "hgvs_p": null,
          "transcript": "NM_001349867.2",
          "protein_id": "NP_001336796.1",
          "transcript_support_level": null,
          "aa_start": null,
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      "computational_score_selected": -0.8199999928474426,
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      "computational_source_selected": "BayesDel_noAF",
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      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
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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,
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            "BP4_Strong"
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          "verdict": "Likely_benign",
          "transcript": "ENST00000332509.8",
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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
}