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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: 7-108159534-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=108159534&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 108159534,
      "ref": "T",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "ENST00000379028.8",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3606A>G",
          "hgvs_p": "p.Glu1202Glu",
          "transcript": "NM_001037132.4",
          "protein_id": "NP_001032209.1",
          "transcript_support_level": null,
          "aa_start": 1202,
          "aa_end": null,
          "aa_length": 1304,
          "cds_start": 3606,
          "cds_end": null,
          "cds_length": 3915,
          "cdna_start": 4131,
          "cdna_end": null,
          "cdna_length": 6701,
          "mane_select": "ENST00000379028.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3606A>G",
          "hgvs_p": "p.Glu1202Glu",
          "transcript": "ENST00000379028.8",
          "protein_id": "ENSP00000368314.3",
          "transcript_support_level": 5,
          "aa_start": 1202,
          "aa_end": null,
          "aa_length": 1304,
          "cds_start": 3606,
          "cds_end": null,
          "cds_length": 3915,
          "cdna_start": 4131,
          "cdna_end": null,
          "cdna_length": 6701,
          "mane_select": "NM_001037132.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3270A>G",
          "hgvs_p": "p.Glu1090Glu",
          "transcript": "ENST00000379024.8",
          "protein_id": "ENSP00000368310.4",
          "transcript_support_level": 1,
          "aa_start": 1090,
          "aa_end": null,
          "aa_length": 1192,
          "cds_start": 3270,
          "cds_end": null,
          "cds_length": 3579,
          "cdna_start": 3680,
          "cdna_end": null,
          "cdna_length": 5782,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3243A>G",
          "hgvs_p": "p.Glu1081Glu",
          "transcript": "ENST00000351718.8",
          "protein_id": "ENSP00000325269.6",
          "transcript_support_level": 1,
          "aa_start": 1081,
          "aa_end": null,
          "aa_length": 1183,
          "cds_start": 3243,
          "cds_end": null,
          "cds_length": 3552,
          "cdna_start": 3671,
          "cdna_end": null,
          "cdna_length": 6228,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3615A>G",
          "hgvs_p": "p.Glu1205Glu",
          "transcript": "NM_001371156.1",
          "protein_id": "NP_001358085.1",
          "transcript_support_level": null,
          "aa_start": 1205,
          "aa_end": null,
          "aa_length": 1307,
          "cds_start": 3615,
          "cds_end": null,
          "cds_length": 3924,
          "cdna_start": 4140,
          "cdna_end": null,
          "cdna_length": 6710,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3606A>G",
          "hgvs_p": "p.Glu1202Glu",
          "transcript": "NM_001371131.1",
          "protein_id": "NP_001358060.1",
          "transcript_support_level": null,
          "aa_start": 1202,
          "aa_end": null,
          "aa_length": 1304,
          "cds_start": 3606,
          "cds_end": null,
          "cds_length": 3915,
          "cdna_start": 4212,
          "cdna_end": null,
          "cdna_length": 6782,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3570A>G",
          "hgvs_p": "p.Glu1190Glu",
          "transcript": "NM_001371169.1",
          "protein_id": "NP_001358098.1",
          "transcript_support_level": null,
          "aa_start": 1190,
          "aa_end": null,
          "aa_length": 1292,
          "cds_start": 3570,
          "cds_end": null,
          "cds_length": 3879,
          "cdna_start": 4095,
          "cdna_end": null,
          "cdna_length": 6665,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3558A>G",
          "hgvs_p": "p.Glu1186Glu",
          "transcript": "NM_001371119.1",
          "protein_id": "NP_001358048.1",
          "transcript_support_level": null,
          "aa_start": 1186,
          "aa_end": null,
          "aa_length": 1288,
          "cds_start": 3558,
          "cds_end": null,
          "cds_length": 3867,
          "cdna_start": 3940,
          "cdna_end": null,
          "cdna_length": 6510,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3549A>G",
          "hgvs_p": "p.Glu1183Glu",
          "transcript": "NM_001371124.1",
          "protein_id": "NP_001358053.1",
          "transcript_support_level": null,
          "aa_start": 1183,
          "aa_end": null,
          "aa_length": 1285,
          "cds_start": 3549,
          "cds_end": null,
          "cds_length": 3858,
          "cdna_start": 3931,
          "cdna_end": null,
          "cdna_length": 6501,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3549A>G",
          "hgvs_p": "p.Glu1183Glu",
          "transcript": "NM_001371126.1",
          "protein_id": "NP_001358055.1",
          "transcript_support_level": null,
          "aa_start": 1183,
          "aa_end": null,
          "aa_length": 1285,
          "cds_start": 3549,
          "cds_end": null,
          "cds_length": 3858,
          "cdna_start": 4228,
          "cdna_end": null,
          "cdna_length": 6798,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3549A>G",
          "hgvs_p": "p.Glu1183Glu",
          "transcript": "NM_001371172.1",
          "protein_id": "NP_001358101.1",
          "transcript_support_level": null,
          "aa_start": 1183,
          "aa_end": null,
          "aa_length": 1285,
          "cds_start": 3549,
          "cds_end": null,
          "cds_length": 3858,
          "cdna_start": 4074,
          "cdna_end": null,
          "cdna_length": 6644,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3513A>G",
          "hgvs_p": "p.Glu1171Glu",
          "transcript": "NM_001371146.1",
          "protein_id": "NP_001358075.1",
          "transcript_support_level": null,
          "aa_start": 1171,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": 3513,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": 4038,
          "cdna_end": null,
          "cdna_length": 6608,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3444A>G",
          "hgvs_p": "p.Glu1148Glu",
          "transcript": "NM_001371138.1",
          "protein_id": "NP_001358067.1",
          "transcript_support_level": null,
          "aa_start": 1148,
          "aa_end": null,
          "aa_length": 1250,
          "cds_start": 3444,
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          "cds_length": 3753,
          "cdna_start": 3969,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3423A>G",
          "hgvs_p": "p.Glu1141Glu",
          "transcript": "NM_001371158.1",
          "protein_id": "NP_001358087.1",
          "transcript_support_level": null,
          "aa_start": 1141,
          "aa_end": null,
          "aa_length": 1243,
          "cds_start": 3423,
          "cds_end": null,
          "cds_length": 3732,
          "cdna_start": 3948,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
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          "intron_rank": null,
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          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3396A>G",
          "hgvs_p": "p.Glu1132Glu",
          "transcript": "NM_001371145.1",
          "protein_id": "NP_001358074.1",
          "transcript_support_level": null,
          "aa_start": 1132,
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          "cds_start": 3396,
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          "cdna_start": 3921,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3369A>G",
          "hgvs_p": "p.Glu1123Glu",
          "transcript": "NM_001371136.1",
          "protein_id": "NP_001358065.1",
          "transcript_support_level": null,
          "aa_start": 1123,
          "aa_end": null,
          "aa_length": 1225,
          "cds_start": 3369,
          "cds_end": null,
          "cds_length": 3678,
          "cdna_start": 3894,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3360A>G",
          "hgvs_p": "p.Glu1120Glu",
          "transcript": "NM_001371140.1",
          "protein_id": "NP_001358069.1",
          "transcript_support_level": null,
          "aa_start": 1120,
          "aa_end": null,
          "aa_length": 1222,
          "cds_start": 3360,
          "cds_end": null,
          "cds_length": 3669,
          "cdna_start": 3885,
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          "cdna_length": 6455,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
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          "exon_count": 31,
          "intron_rank": null,
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          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3336A>G",
          "hgvs_p": "p.Glu1112Glu",
          "transcript": "NM_001371123.1",
          "protein_id": "NP_001358052.1",
          "transcript_support_level": null,
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          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
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          "exon_count": 31,
          "intron_rank": null,
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          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3336A>G",
          "hgvs_p": "p.Glu1112Glu",
          "transcript": "NM_001371149.1",
          "protein_id": "NP_001358078.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 1214,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3327A>G",
          "hgvs_p": "p.Glu1109Glu",
          "transcript": "NM_001193582.2",
          "protein_id": "NP_001180511.1",
          "transcript_support_level": null,
          "aa_start": 1109,
          "aa_end": null,
          "aa_length": 1211,
          "cds_start": 3327,
          "cds_end": null,
          "cds_length": 3636,
          "cdna_start": 3852,
          "cdna_end": null,
          "cdna_length": 6422,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 32,
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        },
        {
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        },
        {
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            "non_coding_transcript_exon_variant"
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          "gene_symbol": "NRCAM",
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          "hgvs_c": "n.3838A>G",
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          "transcript": "NR_163871.1",
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        }
      ],
      "gene_symbol": "NRCAM",
      "gene_hgnc_id": 7994,
      "dbsnp": "rs145828112",
      "frequency_reference_population": 0.000022315839,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 36,
      "gnomad_exomes_af": 0.0000102676,
      "gnomad_genomes_af": 0.000137889,
      "gnomad_exomes_ac": 15,
      "gnomad_genomes_ac": 21,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.07699999958276749,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.077,
      "revel_prediction": "Benign",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.51,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.305,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "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": -5,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -5,
          "benign_score": 5,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000379028.8",
          "gene_symbol": "NRCAM",
          "hgnc_id": 7994,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.3606A>G",
          "hgvs_p": "p.Glu1202Glu"
        }
      ],
      "clinvar_disease": "not provided",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}