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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: 9-137811613-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137811613&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 137811613,
      "ref": "C",
      "alt": "A",
      "effect": "splice_region_variant,synonymous_variant",
      "transcript": "ENST00000460843.6",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EHMT1",
          "gene_hgnc_id": 24650,
          "hgvs_c": "c.2865C>A",
          "hgvs_p": "p.Val955Val",
          "transcript": "NM_024757.5",
          "protein_id": "NP_079033.4",
          "transcript_support_level": null,
          "aa_start": 955,
          "aa_end": null,
          "aa_length": 1298,
          "cds_start": 2865,
          "cds_end": null,
          "cds_length": 3897,
          "cdna_start": 2889,
          "cdna_end": null,
          "cdna_length": 5095,
          "mane_select": "ENST00000460843.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EHMT1",
          "gene_hgnc_id": 24650,
          "hgvs_c": "c.2865C>A",
          "hgvs_p": "p.Val955Val",
          "transcript": "ENST00000460843.6",
          "protein_id": "ENSP00000417980.1",
          "transcript_support_level": 5,
          "aa_start": 955,
          "aa_end": null,
          "aa_length": 1298,
          "cds_start": 2865,
          "cds_end": null,
          "cds_length": 3897,
          "cdna_start": 2889,
          "cdna_end": null,
          "cdna_length": 5095,
          "mane_select": "NM_024757.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EHMT1",
          "gene_hgnc_id": 24650,
          "hgvs_c": "c.2844C>A",
          "hgvs_p": "p.Val948Val",
          "transcript": "NM_001354263.2",
          "protein_id": "NP_001341192.1",
          "transcript_support_level": null,
          "aa_start": 948,
          "aa_end": null,
          "aa_length": 1291,
          "cds_start": 2844,
          "cds_end": null,
          "cds_length": 3876,
          "cdna_start": 2868,
          "cdna_end": null,
          "cdna_length": 5074,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EHMT1",
          "gene_hgnc_id": 24650,
          "hgvs_c": "c.2772C>A",
          "hgvs_p": "p.Val924Val",
          "transcript": "ENST00000637161.1",
          "protein_id": "ENSP00000490328.1",
          "transcript_support_level": 5,
          "aa_start": 924,
          "aa_end": null,
          "aa_length": 1267,
          "cds_start": 2772,
          "cds_end": null,
          "cds_length": 3804,
          "cdna_start": 2870,
          "cdna_end": null,
          "cdna_length": 5049,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EHMT1",
          "gene_hgnc_id": 24650,
          "hgvs_c": "c.2751C>A",
          "hgvs_p": "p.Val917Val",
          "transcript": "ENST00000636027.1",
          "protein_id": "ENSP00000489961.1",
          "transcript_support_level": 5,
          "aa_start": 917,
          "aa_end": null,
          "aa_length": 980,
          "cds_start": 2751,
          "cds_end": null,
          "cds_length": 2945,
          "cdna_start": 2920,
          "cdna_end": null,
          "cdna_length": 3114,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EHMT1",
          "gene_hgnc_id": 24650,
          "hgvs_c": "c.2874C>A",
          "hgvs_p": "p.Val958Val",
          "transcript": "XM_011519021.4",
          "protein_id": "XP_011517323.1",
          "transcript_support_level": null,
          "aa_start": 958,
          "aa_end": null,
          "aa_length": 1301,
          "cds_start": 2874,
          "cds_end": null,
          "cds_length": 3906,
          "cdna_start": 2975,
          "cdna_end": null,
          "cdna_length": 5181,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EHMT1",
          "gene_hgnc_id": 24650,
          "hgvs_c": "c.2871C>A",
          "hgvs_p": "p.Val957Val",
          "transcript": "XM_011519022.4",
          "protein_id": "XP_011517324.1",
          "transcript_support_level": null,
          "aa_start": 957,
          "aa_end": null,
          "aa_length": 1300,
          "cds_start": 2871,
          "cds_end": null,
          "cds_length": 3903,
          "cdna_start": 3359,
          "cdna_end": null,
          "cdna_length": 5565,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EHMT1",
          "gene_hgnc_id": 24650,
          "hgvs_c": "c.2856C>A",
          "hgvs_p": "p.Val952Val",
          "transcript": "XM_047423872.1",
          "protein_id": "XP_047279828.1",
          "transcript_support_level": null,
          "aa_start": 952,
          "aa_end": null,
          "aa_length": 1295,
          "cds_start": 2856,
          "cds_end": null,
          "cds_length": 3888,
          "cdna_start": 2992,
          "cdna_end": null,
          "cdna_length": 5198,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EHMT1",
          "gene_hgnc_id": 24650,
          "hgvs_c": "c.2853C>A",
          "hgvs_p": "p.Val951Val",
          "transcript": "XM_011519023.4",
          "protein_id": "XP_011517325.1",
          "transcript_support_level": null,
          "aa_start": 951,
          "aa_end": null,
          "aa_length": 1294,
          "cds_start": 2853,
          "cds_end": null,
          "cds_length": 3885,
          "cdna_start": 2954,
          "cdna_end": null,
          "cdna_length": 5160,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EHMT1",
          "gene_hgnc_id": 24650,
          "hgvs_c": "c.2850C>A",
          "hgvs_p": "p.Val950Val",
          "transcript": "XM_017015134.2",
          "protein_id": "XP_016870623.1",
          "transcript_support_level": null,
          "aa_start": 950,
          "aa_end": null,
          "aa_length": 1293,
          "cds_start": 2850,
          "cds_end": null,
          "cds_length": 3882,
          "cdna_start": 3338,
          "cdna_end": null,
          "cdna_length": 5544,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EHMT1",
          "gene_hgnc_id": 24650,
          "hgvs_c": "c.2835C>A",
          "hgvs_p": "p.Val945Val",
          "transcript": "XM_047423873.1",
          "protein_id": "XP_047279829.1",
          "transcript_support_level": null,
          "aa_start": 945,
          "aa_end": null,
          "aa_length": 1288,
          "cds_start": 2835,
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          "cds_length": 3867,
          "cdna_start": 11112,
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          "cdna_length": 13318,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
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          "gene_symbol": "EHMT1",
          "gene_hgnc_id": 24650,
          "hgvs_c": "c.2796C>A",
          "hgvs_p": "p.Val932Val",
          "transcript": "XM_047423874.1",
          "protein_id": "XP_047279830.1",
          "transcript_support_level": null,
          "aa_start": 932,
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          "aa_length": 1275,
          "cds_start": 2796,
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          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
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          "exon_count": 27,
          "intron_rank": null,
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          "gene_symbol": "EHMT1",
          "gene_hgnc_id": 24650,
          "hgvs_c": "c.2778C>A",
          "hgvs_p": "p.Val926Val",
          "transcript": "XM_047423875.1",
          "protein_id": "XP_047279831.1",
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          "cds_start": 2778,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
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          "gene_symbol": "EHMT1",
          "gene_hgnc_id": 24650,
          "hgvs_c": "c.2775C>A",
          "hgvs_p": "p.Val925Val",
          "transcript": "XM_047423876.1",
          "protein_id": "XP_047279832.1",
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        },
        {
          "aa_ref": "V",
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          "strand": true,
          "consequences": [
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          "intron_rank": null,
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          "gene_symbol": "EHMT1",
          "gene_hgnc_id": 24650,
          "hgvs_c": "c.2772C>A",
          "hgvs_p": "p.Val924Val",
          "transcript": "XM_005266110.2",
          "protein_id": "XP_005266167.1",
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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            "synonymous_variant"
          ],
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          "exon_count": 27,
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          "gene_symbol": "EHMT1",
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          "hgvs_c": "c.2772C>A",
          "hgvs_p": "p.Val924Val",
          "transcript": "XM_047423877.1",
          "protein_id": "XP_047279833.1",
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        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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            "synonymous_variant"
          ],
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          "exon_count": 27,
          "intron_rank": null,
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          "gene_symbol": "EHMT1",
          "gene_hgnc_id": 24650,
          "hgvs_c": "c.2772C>A",
          "hgvs_p": "p.Val924Val",
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        {
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          "aa_alt": "V",
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          "strand": true,
          "consequences": [
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          "gene_symbol": "EHMT1",
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          "hgvs_c": "c.2751C>A",
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        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
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          "intron_rank": null,
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          "gene_symbol": "EHMT1",
          "gene_hgnc_id": 24650,
          "hgvs_c": "c.2751C>A",
          "hgvs_p": "p.Val917Val",
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          "transcript_support_level": null,
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          "cdna_length": 5077,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EHMT1",
          "gene_hgnc_id": 24650,
          "hgvs_c": "c.2730C>A",
          "hgvs_p": "p.Val910Val",
          "transcript": "XM_047423880.1",
          "protein_id": "XP_047279836.1",
          "transcript_support_level": null,
          "aa_start": 910,
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          "aa_length": 1253,
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      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:2",
      "phenotype_combined": "Inborn genetic diseases|Kleefstra syndrome 1",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
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  "message": null
}