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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: 19-36103758-GC-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36103758&ref=GC&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 36103758,
      "ref": "GC",
      "alt": "G",
      "effect": "frameshift_variant",
      "transcript": "ENST00000401500.7",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.3936delC",
          "hgvs_p": "p.Val1313fs",
          "transcript": "NM_001083961.2",
          "protein_id": "NP_001077430.1",
          "transcript_support_level": null,
          "aa_start": 1312,
          "aa_end": null,
          "aa_length": 1523,
          "cds_start": 3936,
          "cds_end": null,
          "cds_length": 4572,
          "cdna_start": 4011,
          "cdna_end": null,
          "cdna_length": 4727,
          "mane_select": "ENST00000401500.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.3936delC",
          "hgvs_p": "p.Val1313fs",
          "transcript": "ENST00000401500.7",
          "protein_id": "ENSP00000384792.1",
          "transcript_support_level": 1,
          "aa_start": 1312,
          "aa_end": null,
          "aa_length": 1523,
          "cds_start": 3936,
          "cds_end": null,
          "cds_length": 4572,
          "cdna_start": 4011,
          "cdna_end": null,
          "cdna_length": 4727,
          "mane_select": "NM_001083961.2",
          "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": 28,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "n.*3796delC",
          "hgvs_p": null,
          "transcript": "ENST00000587391.6",
          "protein_id": "ENSP00000465525.1",
          "transcript_support_level": 1,
          "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": 5973,
          "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": 28,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "n.*3796delC",
          "hgvs_p": null,
          "transcript": "ENST00000587391.6",
          "protein_id": "ENSP00000465525.1",
          "transcript_support_level": 1,
          "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": 5973,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.3930delC",
          "hgvs_p": "p.Val1311fs",
          "transcript": "ENST00000679714.1",
          "protein_id": "ENSP00000506627.1",
          "transcript_support_level": null,
          "aa_start": 1310,
          "aa_end": null,
          "aa_length": 1521,
          "cds_start": 3930,
          "cds_end": null,
          "cds_length": 4566,
          "cdna_start": 4005,
          "cdna_end": null,
          "cdna_length": 4708,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.3921delC",
          "hgvs_p": "p.Val1308fs",
          "transcript": "NM_001411145.1",
          "protein_id": "NP_001398074.1",
          "transcript_support_level": null,
          "aa_start": 1307,
          "aa_end": null,
          "aa_length": 1518,
          "cds_start": 3921,
          "cds_end": null,
          "cds_length": 4557,
          "cdna_start": 3996,
          "cdna_end": null,
          "cdna_length": 4712,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.3921delC",
          "hgvs_p": "p.Val1308fs",
          "transcript": "NM_173636.5",
          "protein_id": "NP_775907.4",
          "transcript_support_level": null,
          "aa_start": 1307,
          "aa_end": null,
          "aa_length": 1518,
          "cds_start": 3921,
          "cds_end": null,
          "cds_length": 4557,
          "cdna_start": 3996,
          "cdna_end": null,
          "cdna_length": 4712,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.3921delC",
          "hgvs_p": "p.Val1308fs",
          "transcript": "ENST00000270301.12",
          "protein_id": "ENSP00000270301.6",
          "transcript_support_level": 5,
          "aa_start": 1307,
          "aa_end": null,
          "aa_length": 1518,
          "cds_start": 3921,
          "cds_end": null,
          "cds_length": 4557,
          "cdna_start": 3921,
          "cdna_end": null,
          "cdna_length": 4634,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.3921delC",
          "hgvs_p": "p.Val1308fs",
          "transcript": "ENST00000679682.1",
          "protein_id": "ENSP00000506226.1",
          "transcript_support_level": null,
          "aa_start": 1307,
          "aa_end": null,
          "aa_length": 1518,
          "cds_start": 3921,
          "cds_end": null,
          "cds_length": 4557,
          "cdna_start": 3996,
          "cdna_end": null,
          "cdna_length": 4702,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.3687delC",
          "hgvs_p": "p.Val1230fs",
          "transcript": "NM_001411146.1",
          "protein_id": "NP_001398075.1",
          "transcript_support_level": null,
          "aa_start": 1229,
          "aa_end": null,
          "aa_length": 1440,
          "cds_start": 3687,
          "cds_end": null,
          "cds_length": 4323,
          "cdna_start": 3762,
          "cdna_end": null,
          "cdna_length": 4478,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.3687delC",
          "hgvs_p": "p.Val1230fs",
          "transcript": "ENST00000680564.1",
          "protein_id": "ENSP00000505582.1",
          "transcript_support_level": null,
          "aa_start": 1229,
          "aa_end": null,
          "aa_length": 1440,
          "cds_start": 3687,
          "cds_end": null,
          "cds_length": 4323,
          "cdna_start": 3762,
          "cdna_end": null,
          "cdna_length": 4478,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.3921delC",
          "hgvs_p": "p.Val1308fs",
          "transcript": "ENST00000680403.1",
          "protein_id": "ENSP00000505677.1",
          "transcript_support_level": null,
          "aa_start": 1307,
          "aa_end": null,
          "aa_length": 1434,
          "cds_start": 3921,
          "cds_end": null,
          "cds_length": 4305,
          "cdna_start": 3996,
          "cdna_end": null,
          "cdna_length": 4627,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.3585delC",
          "hgvs_p": "p.Val1196fs",
          "transcript": "NM_001411147.1",
          "protein_id": "NP_001398076.1",
          "transcript_support_level": null,
          "aa_start": 1195,
          "aa_end": null,
          "aa_length": 1406,
          "cds_start": 3585,
          "cds_end": null,
          "cds_length": 4221,
          "cdna_start": 3660,
          "cdna_end": null,
          "cdna_length": 4376,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.3585delC",
          "hgvs_p": "p.Val1196fs",
          "transcript": "ENST00000679757.1",
          "protein_id": "ENSP00000505158.1",
          "transcript_support_level": null,
          "aa_start": 1195,
          "aa_end": null,
          "aa_length": 1406,
          "cds_start": 3585,
          "cds_end": null,
          "cds_length": 4221,
          "cdna_start": 3627,
          "cdna_end": null,
          "cdna_length": 4339,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.537delC",
          "hgvs_p": "p.Val180fs",
          "transcript": "ENST00000680211.1",
          "protein_id": "ENSP00000506102.1",
          "transcript_support_level": null,
          "aa_start": 179,
          "aa_end": null,
          "aa_length": 390,
          "cds_start": 537,
          "cds_end": null,
          "cds_length": 1173,
          "cdna_start": 1350,
          "cdna_end": null,
          "cdna_length": 2066,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.3936delC",
          "hgvs_p": "p.Val1313fs",
          "transcript": "XM_017026665.2",
          "protein_id": "XP_016882154.1",
          "transcript_support_level": null,
          "aa_start": 1312,
          "aa_end": null,
          "aa_length": 1523,
          "cds_start": 3936,
          "cds_end": null,
          "cds_length": 4572,
          "cdna_start": 4011,
          "cdna_end": null,
          "cdna_length": 4709,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.3906delC",
          "hgvs_p": "p.Val1303fs",
          "transcript": "XM_047438657.1",
          "protein_id": "XP_047294613.1",
          "transcript_support_level": null,
          "aa_start": 1302,
          "aa_end": null,
          "aa_length": 1513,
          "cds_start": 3906,
          "cds_end": null,
          "cds_length": 4542,
          "cdna_start": 3981,
          "cdna_end": null,
          "cdna_length": 4697,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.3825delC",
          "hgvs_p": "p.Val1276fs",
          "transcript": "XM_005258809.3",
          "protein_id": "XP_005258866.1",
          "transcript_support_level": null,
          "aa_start": 1275,
          "aa_end": null,
          "aa_length": 1486,
          "cds_start": 3825,
          "cds_end": null,
          "cds_length": 4461,
          "cdna_start": 3900,
          "cdna_end": null,
          "cdna_length": 4616,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.3810delC",
          "hgvs_p": "p.Val1271fs",
          "transcript": "XM_047438658.1",
          "protein_id": "XP_047294614.1",
          "transcript_support_level": null,
          "aa_start": 1270,
          "aa_end": null,
          "aa_length": 1481,
          "cds_start": 3810,
          "cds_end": null,
          "cds_length": 4446,
          "cdna_start": 3885,
          "cdna_end": null,
          "cdna_length": 4601,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
          "gene_hgnc_id": 24502,
          "hgvs_c": "c.3810delC",
          "hgvs_p": "p.Val1271fs",
          "transcript": "XM_047438659.1",
          "protein_id": "XP_047294615.1",
          "transcript_support_level": null,
          "aa_start": 1270,
          "aa_end": null,
          "aa_length": 1481,
          "cds_start": 3810,
          "cds_end": null,
          "cds_length": 4446,
          "cdna_start": 3885,
          "cdna_end": null,
          "cdna_length": 4601,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WDR62",
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      "gnomad_genomes_ac": null,
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      "computational_score_selected": null,
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      "phylop100way_score": -0.923,
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      "spliceai_max_score": 0.06,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": 10,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PVS1,PM2",
      "acmg_by_gene": [
        {
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            "PM2"
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          "verdict": "Pathogenic",
          "transcript": "ENST00000401500.7",
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          "effects": [
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          "inheritance_mode": "AR",
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          "hgvs_p": "p.Val1313fs"
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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
}