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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: 21-45203408-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=45203408&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "21",
      "pos": 45203408,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_001410722.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "c.1566-1147A>G",
          "hgvs_p": null,
          "transcript": "NM_001112.4",
          "protein_id": "NP_001103.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 701,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2106,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000348831.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001112.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "c.1566-1147A>G",
          "hgvs_p": null,
          "transcript": "ENST00000348831.9",
          "protein_id": "ENSP00000015877.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 701,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2106,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001112.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000348831.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "c.1686-1147A>G",
          "hgvs_p": null,
          "transcript": "ENST00000360697.4",
          "protein_id": "ENSP00000353920.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 741,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2226,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000360697.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "c.1686-1147A>G",
          "hgvs_p": null,
          "transcript": "ENST00000389863.8",
          "protein_id": "ENSP00000374513.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 714,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2145,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000389863.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "n.1566-1147A>G",
          "hgvs_p": null,
          "transcript": "ENST00000389861.7",
          "protein_id": "ENSP00000516121.1",
          "transcript_support_level": 1,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000389861.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "n.1566-1147A>G",
          "hgvs_p": null,
          "transcript": "ENST00000492414.5",
          "protein_id": "ENSP00000436367.1",
          "transcript_support_level": 1,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000492414.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "n.1686-1147A>G",
          "hgvs_p": null,
          "transcript": "ENST00000496664.5",
          "protein_id": "ENSP00000435381.1",
          "transcript_support_level": 1,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000496664.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "c.1713-1147A>G",
          "hgvs_p": null,
          "transcript": "NM_001410722.1",
          "protein_id": "NP_001397651.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001410722.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "c.1713-1147A>G",
          "hgvs_p": null,
          "transcript": "ENST00000705392.1",
          "protein_id": "ENSP00000516122.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000705392.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "c.1686-1147A>G",
          "hgvs_p": null,
          "transcript": "NM_015833.4",
          "protein_id": "NP_056648.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 741,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2226,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015833.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "c.1686-1147A>G",
          "hgvs_p": null,
          "transcript": "ENST00000449478.2",
          "protein_id": "ENSP00000387480.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 741,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2226,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000449478.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "c.1833-1147A>G",
          "hgvs_p": null,
          "transcript": "NM_001346687.2",
          "protein_id": "NP_001333616.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 733,
          "cds_start": null,
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          "cds_length": 2202,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001346687.2"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 12,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "c.1833-1147A>G",
          "hgvs_p": null,
          "transcript": "ENST00000705393.1",
          "protein_id": "ENSP00000516123.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 733,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000705393.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "c.1686-1147A>G",
          "hgvs_p": null,
          "transcript": "NM_015834.4",
          "protein_id": "NP_056649.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 714,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_015834.4"
        },
        {
          "aa_ref": null,
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          "consequences": [
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          ],
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          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "c.1566-1147A>G",
          "hgvs_p": null,
          "transcript": "ENST00000874894.1",
          "protein_id": "ENSP00000544953.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000874894.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "c.1566-1147A>G",
          "hgvs_p": null,
          "transcript": "ENST00000913573.1",
          "protein_id": "ENSP00000583632.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000913573.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "c.1566-1147A>G",
          "hgvs_p": null,
          "transcript": "ENST00000962803.1",
          "protein_id": "ENSP00000632862.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          ],
          "exon_rank": null,
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          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "c.1566-1147A>G",
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          "transcript": "ENST00000962804.1",
          "protein_id": "ENSP00000632863.1",
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          "biotype": "protein_coding",
          "feature": "ENST00000962804.1"
        },
        {
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          "protein_coding": true,
          "strand": true,
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          ],
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          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "c.1566-1147A>G",
          "hgvs_p": null,
          "transcript": "NM_001160230.2",
          "protein_id": "NP_001153702.1",
          "transcript_support_level": null,
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          "aa_length": 674,
          "cds_start": null,
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          "cds_length": 2025,
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          "biotype": "protein_coding",
          "feature": "NM_001160230.2"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "ADARB1",
          "gene_hgnc_id": 226,
          "hgvs_c": "c.1566-1147A>G",
          "hgvs_p": null,
          "transcript": "NM_001346688.2",
          "protein_id": "NP_001333617.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 674,
          "cds_start": null,
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          "cds_length": 2025,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001346688.2"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
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      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.97,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.006,
      "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": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_001410722.1",
          "gene_symbol": "ADARB1",
          "hgnc_id": 226,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1713-1147A>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}