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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: 6-109741538-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=109741538&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 109741538,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "ENST00000230124.8",
      "consequences": [
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.870C>T",
          "hgvs_p": "p.Asn290Asn",
          "transcript": "NM_014845.6",
          "protein_id": "NP_055660.1",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 907,
          "cds_start": 870,
          "cds_end": null,
          "cds_length": 2724,
          "cdna_start": 1010,
          "cdna_end": null,
          "cdna_length": 3025,
          "mane_select": "ENST00000230124.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.870C>T",
          "hgvs_p": "p.Asn290Asn",
          "transcript": "ENST00000230124.8",
          "protein_id": "ENSP00000230124.4",
          "transcript_support_level": 1,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 907,
          "cds_start": 870,
          "cds_end": null,
          "cds_length": 2724,
          "cdna_start": 1010,
          "cdna_end": null,
          "cdna_length": 3025,
          "mane_select": "NM_014845.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.888C>T",
          "hgvs_p": "p.Asn296Asn",
          "transcript": "ENST00000674884.1",
          "protein_id": "ENSP00000502668.1",
          "transcript_support_level": null,
          "aa_start": 296,
          "aa_end": null,
          "aa_length": 913,
          "cds_start": 888,
          "cds_end": null,
          "cds_length": 2742,
          "cdna_start": 1009,
          "cdna_end": null,
          "cdna_length": 3003,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.864C>T",
          "hgvs_p": "p.Asn288Asn",
          "transcript": "ENST00000674744.1",
          "protein_id": "ENSP00000501661.1",
          "transcript_support_level": null,
          "aa_start": 288,
          "aa_end": null,
          "aa_length": 905,
          "cds_start": 864,
          "cds_end": null,
          "cds_length": 2718,
          "cdna_start": 1019,
          "cdna_end": null,
          "cdna_length": 2999,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.870C>T",
          "hgvs_p": "p.Asn290Asn",
          "transcript": "ENST00000675726.1",
          "protein_id": "ENSP00000502452.1",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 878,
          "cds_start": 870,
          "cds_end": null,
          "cds_length": 2637,
          "cdna_start": 1057,
          "cdna_end": null,
          "cdna_length": 2966,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.870C>T",
          "hgvs_p": "p.Asn290Asn",
          "transcript": "ENST00000675772.1",
          "protein_id": "ENSP00000501678.1",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 864,
          "cds_start": 870,
          "cds_end": null,
          "cds_length": 2595,
          "cdna_start": 1010,
          "cdna_end": null,
          "cdna_length": 2963,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.741C>T",
          "hgvs_p": "p.Asn247Asn",
          "transcript": "ENST00000676442.1",
          "protein_id": "ENSP00000502595.1",
          "transcript_support_level": null,
          "aa_start": 247,
          "aa_end": null,
          "aa_length": 864,
          "cds_start": 741,
          "cds_end": null,
          "cds_length": 2595,
          "cdna_start": 912,
          "cdna_end": null,
          "cdna_length": 2915,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.870C>T",
          "hgvs_p": "p.Asn290Asn",
          "transcript": "ENST00000675284.1",
          "protein_id": "ENSP00000502758.1",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 849,
          "cds_start": 870,
          "cds_end": null,
          "cds_length": 2550,
          "cdna_start": 1010,
          "cdna_end": null,
          "cdna_length": 3137,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.870C>T",
          "hgvs_p": "p.Asn290Asn",
          "transcript": "ENST00000675096.1",
          "protein_id": "ENSP00000502116.1",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 838,
          "cds_start": 870,
          "cds_end": null,
          "cds_length": 2517,
          "cdna_start": 994,
          "cdna_end": null,
          "cdna_length": 2715,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.639C>T",
          "hgvs_p": "p.Asn213Asn",
          "transcript": "ENST00000675523.1",
          "protein_id": "ENSP00000502384.1",
          "transcript_support_level": null,
          "aa_start": 213,
          "aa_end": null,
          "aa_length": 830,
          "cds_start": 639,
          "cds_end": null,
          "cds_length": 2493,
          "cdna_start": 1018,
          "cdna_end": null,
          "cdna_length": 3033,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.870C>T",
          "hgvs_p": "p.Asn290Asn",
          "transcript": "ENST00000675714.1",
          "protein_id": "ENSP00000502561.1",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 816,
          "cds_start": 870,
          "cds_end": null,
          "cds_length": 2451,
          "cdna_start": 1018,
          "cdna_end": null,
          "cdna_length": 2725,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.639C>T",
          "hgvs_p": "p.Asn213Asn",
          "transcript": "ENST00000674933.1",
          "protein_id": "ENSP00000502376.1",
          "transcript_support_level": null,
          "aa_start": 213,
          "aa_end": null,
          "aa_length": 801,
          "cds_start": 639,
          "cds_end": null,
          "cds_length": 2406,
          "cdna_start": 1039,
          "cdna_end": null,
          "cdna_length": 2912,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.525C>T",
          "hgvs_p": "p.Asn175Asn",
          "transcript": "ENST00000674641.1",
          "protein_id": "ENSP00000501609.1",
          "transcript_support_level": null,
          "aa_start": 175,
          "aa_end": null,
          "aa_length": 792,
          "cds_start": 525,
          "cds_end": null,
          "cds_length": 2379,
          "cdna_start": 787,
          "cdna_end": null,
          "cdna_length": 2786,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.870C>T",
          "hgvs_p": "p.Asn290Asn",
          "transcript": "ENST00000675681.1",
          "protein_id": "ENSP00000502705.1",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": 870,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": 994,
          "cdna_end": null,
          "cdna_length": 2187,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.741C>T",
          "hgvs_p": "p.Asn247Asn",
          "transcript": "ENST00000675973.1",
          "protein_id": "ENSP00000502407.1",
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          "aa_end": null,
          "aa_length": 561,
          "cds_start": 741,
          "cds_end": null,
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          "cdna_start": 865,
          "cdna_end": null,
          "cdna_length": 1877,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.870C>T",
          "hgvs_p": "p.Asn290Asn",
          "transcript": "ENST00000676435.1",
          "protein_id": "ENSP00000502614.1",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 870,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": 1010,
          "cdna_end": null,
          "cdna_length": 1387,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.846C>T",
          "hgvs_p": "p.Asn282Asn",
          "transcript": "ENST00000454215.6",
          "protein_id": "ENSP00000412156.2",
          "transcript_support_level": 3,
          "aa_start": 282,
          "aa_end": null,
          "aa_length": 328,
          "cds_start": 846,
          "cds_end": null,
          "cds_length": 989,
          "cdna_start": 986,
          "cdna_end": null,
          "cdna_length": 1129,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.807C>T",
          "hgvs_p": "p.Asn269Asn",
          "transcript": "XM_011536281.4",
          "protein_id": "XP_011534583.1",
          "transcript_support_level": null,
          "aa_start": 269,
          "aa_end": null,
          "aa_length": 886,
          "cds_start": 807,
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          "cds_length": 2661,
          "cdna_start": 1625,
          "cdna_end": null,
          "cdna_length": 3640,
          "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": 7,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "n.4066C>T",
          "hgvs_p": null,
          "transcript": "ENST00000674532.1",
          "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": 6030,
          "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": 7,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "n.*302C>T",
          "hgvs_p": null,
          "transcript": "ENST00000674557.1",
          "protein_id": "ENSP00000501608.1",
          "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": 2688,
          "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": 7,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
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      "computational_source_selected": "BayesDel_noAF",
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      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.03,
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      "acmg_classification": "Benign",
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      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:2",
      "phenotype_combined": "Charcot-Marie-Tooth disease type 4|Inborn genetic diseases",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
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  "message": null
}