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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: 1-150966805-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150966805&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 150966805,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_022075.5",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Val267Ile",
          "transcript": "NM_022075.5",
          "protein_id": "NP_071358.1",
          "transcript_support_level": null,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 799,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000368954.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_022075.5"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Val267Ile",
          "transcript": "ENST00000368954.10",
          "protein_id": "ENSP00000357950.5",
          "transcript_support_level": 1,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 799,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_022075.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000368954.10"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.340G>A",
          "hgvs_p": "p.Val114Ile",
          "transcript": "ENST00000560793.6",
          "protein_id": "ENSP00000453297.2",
          "transcript_support_level": 1,
          "aa_start": 114,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 340,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000560793.6"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.838G>A",
          "hgvs_p": "p.Val280Ile",
          "transcript": "ENST00000955084.1",
          "protein_id": "ENSP00000625143.1",
          "transcript_support_level": null,
          "aa_start": 280,
          "aa_end": null,
          "aa_length": 393,
          "cds_start": 838,
          "cds_end": null,
          "cds_length": 1182,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000955084.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.826G>A",
          "hgvs_p": "p.Val276Ile",
          "transcript": "ENST00000885841.1",
          "protein_id": "ENSP00000555900.1",
          "transcript_support_level": null,
          "aa_start": 276,
          "aa_end": null,
          "aa_length": 389,
          "cds_start": 826,
          "cds_end": null,
          "cds_length": 1170,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000885841.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Val267Ile",
          "transcript": "NM_181746.4",
          "protein_id": "NP_859530.1",
          "transcript_support_level": null,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 799,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_181746.4"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Val267Ile",
          "transcript": "ENST00000271688.10",
          "protein_id": "ENSP00000271688.6",
          "transcript_support_level": 5,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 799,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000271688.10"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Val267Ile",
          "transcript": "ENST00000885835.1",
          "protein_id": "ENSP00000555894.1",
          "transcript_support_level": null,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 799,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000885835.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Val267Ile",
          "transcript": "ENST00000885836.1",
          "protein_id": "ENSP00000555895.1",
          "transcript_support_level": null,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 799,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000885836.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Val267Ile",
          "transcript": "ENST00000885837.1",
          "protein_id": "ENSP00000555896.1",
          "transcript_support_level": null,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 799,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000885837.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Val267Ile",
          "transcript": "ENST00000885848.1",
          "protein_id": "ENSP00000555907.1",
          "transcript_support_level": null,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 799,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000885848.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Val267Ile",
          "transcript": "ENST00000885849.1",
          "protein_id": "ENSP00000555908.1",
          "transcript_support_level": null,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 799,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000885849.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Val267Ile",
          "transcript": "ENST00000885850.1",
          "protein_id": "ENSP00000555909.1",
          "transcript_support_level": null,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 799,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000885850.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Val267Ile",
          "transcript": "ENST00000885851.1",
          "protein_id": "ENSP00000555910.1",
          "transcript_support_level": null,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 799,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000885851.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Val267Ile",
          "transcript": "ENST00000885852.1",
          "protein_id": "ENSP00000555911.1",
          "transcript_support_level": null,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 799,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000885852.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Val267Ile",
          "transcript": "ENST00000885853.1",
          "protein_id": "ENSP00000555912.1",
          "transcript_support_level": null,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 799,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000885853.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Val267Ile",
          "transcript": "ENST00000885854.1",
          "protein_id": "ENSP00000555913.1",
          "transcript_support_level": null,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 799,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000885854.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Val267Ile",
          "transcript": "ENST00000885855.1",
          "protein_id": "ENSP00000555914.1",
          "transcript_support_level": null,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 799,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000885855.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Val267Ile",
          "transcript": "ENST00000911844.1",
          "protein_id": "ENSP00000581903.1",
          "transcript_support_level": null,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 799,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911844.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Val267Ile",
          "transcript": "ENST00000911845.1",
          "protein_id": "ENSP00000581904.1",
          "transcript_support_level": null,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 799,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000460664.5"
        },
        {
          "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": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CERS2",
          "gene_hgnc_id": 14076,
          "hgvs_c": "n.638G>A",
          "hgvs_p": null,
          "transcript": "ENST00000482825.7",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000482825.7"
        }
      ],
      "gene_symbol": "CERS2",
      "gene_hgnc_id": 14076,
      "dbsnp": "rs149992226",
      "frequency_reference_population": 0.0055673686,
      "hom_count_reference_population": 32,
      "allele_count_reference_population": 8986,
      "gnomad_exomes_af": 0.00572506,
      "gnomad_genomes_af": 0.00405308,
      "gnomad_exomes_ac": 8369,
      "gnomad_genomes_ac": 617,
      "gnomad_exomes_homalt": 30,
      "gnomad_genomes_homalt": 2,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.009523838758468628,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.259,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0796,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.33,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.256,
      "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": -10,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
      "acmg_by_gene": [
        {
          "score": -10,
          "benign_score": 10,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Moderate",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_022075.5",
          "gene_symbol": "CERS2",
          "hgnc_id": 14076,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Val267Ile"
        }
      ],
      "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
}