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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: 16-66908465-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=66908465&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 66908465,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_004062.4",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2417C>T",
          "hgvs_p": "p.Thr806Ile",
          "transcript": "NM_004062.4",
          "protein_id": "NP_004053.1",
          "transcript_support_level": null,
          "aa_start": 806,
          "aa_end": null,
          "aa_length": 829,
          "cds_start": 2417,
          "cds_end": null,
          "cds_length": 2490,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000299752.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004062.4"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2417C>T",
          "hgvs_p": "p.Thr806Ile",
          "transcript": "ENST00000299752.9",
          "protein_id": "ENSP00000299752.4",
          "transcript_support_level": 1,
          "aa_start": 806,
          "aa_end": null,
          "aa_length": 829,
          "cds_start": 2417,
          "cds_end": null,
          "cds_length": 2490,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004062.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000299752.9"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2351C>T",
          "hgvs_p": "p.Thr784Ile",
          "transcript": "ENST00000394055.7",
          "protein_id": "ENSP00000377619.3",
          "transcript_support_level": 1,
          "aa_start": 784,
          "aa_end": null,
          "aa_length": 807,
          "cds_start": 2351,
          "cds_end": null,
          "cds_length": 2424,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000394055.7"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2126C>T",
          "hgvs_p": "p.Thr709Ile",
          "transcript": "ENST00000568632.5",
          "protein_id": "ENSP00000455263.1",
          "transcript_support_level": 1,
          "aa_start": 709,
          "aa_end": null,
          "aa_length": 732,
          "cds_start": 2126,
          "cds_end": null,
          "cds_length": 2199,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000568632.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2660C>T",
          "hgvs_p": "p.Thr887Ile",
          "transcript": "ENST00000867170.1",
          "protein_id": "ENSP00000537229.1",
          "transcript_support_level": null,
          "aa_start": 887,
          "aa_end": null,
          "aa_length": 910,
          "cds_start": 2660,
          "cds_end": null,
          "cds_length": 2733,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867170.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2450C>T",
          "hgvs_p": "p.Thr817Ile",
          "transcript": "ENST00000867174.1",
          "protein_id": "ENSP00000537233.1",
          "transcript_support_level": null,
          "aa_start": 817,
          "aa_end": null,
          "aa_length": 840,
          "cds_start": 2450,
          "cds_end": null,
          "cds_length": 2523,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867174.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2417C>T",
          "hgvs_p": "p.Thr806Ile",
          "transcript": "ENST00000867160.1",
          "protein_id": "ENSP00000537219.1",
          "transcript_support_level": null,
          "aa_start": 806,
          "aa_end": null,
          "aa_length": 829,
          "cds_start": 2417,
          "cds_end": null,
          "cds_length": 2490,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867160.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2417C>T",
          "hgvs_p": "p.Thr806Ile",
          "transcript": "ENST00000867165.1",
          "protein_id": "ENSP00000537224.1",
          "transcript_support_level": null,
          "aa_start": 806,
          "aa_end": null,
          "aa_length": 829,
          "cds_start": 2417,
          "cds_end": null,
          "cds_length": 2490,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867165.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2414C>T",
          "hgvs_p": "p.Thr805Ile",
          "transcript": "ENST00000867169.1",
          "protein_id": "ENSP00000537228.1",
          "transcript_support_level": null,
          "aa_start": 805,
          "aa_end": null,
          "aa_length": 828,
          "cds_start": 2414,
          "cds_end": null,
          "cds_length": 2487,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867169.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2414C>T",
          "hgvs_p": "p.Thr805Ile",
          "transcript": "ENST00000867180.1",
          "protein_id": "ENSP00000537239.1",
          "transcript_support_level": null,
          "aa_start": 805,
          "aa_end": null,
          "aa_length": 828,
          "cds_start": 2414,
          "cds_end": null,
          "cds_length": 2487,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867180.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2387C>T",
          "hgvs_p": "p.Thr796Ile",
          "transcript": "ENST00000867164.1",
          "protein_id": "ENSP00000537223.1",
          "transcript_support_level": null,
          "aa_start": 796,
          "aa_end": null,
          "aa_length": 819,
          "cds_start": 2387,
          "cds_end": null,
          "cds_length": 2460,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867164.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2387C>T",
          "hgvs_p": "p.Thr796Ile",
          "transcript": "ENST00000867178.1",
          "protein_id": "ENSP00000537237.1",
          "transcript_support_level": null,
          "aa_start": 796,
          "aa_end": null,
          "aa_length": 819,
          "cds_start": 2387,
          "cds_end": null,
          "cds_length": 2460,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867178.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2372C>T",
          "hgvs_p": "p.Thr791Ile",
          "transcript": "ENST00000867171.1",
          "protein_id": "ENSP00000537230.1",
          "transcript_support_level": null,
          "aa_start": 791,
          "aa_end": null,
          "aa_length": 814,
          "cds_start": 2372,
          "cds_end": null,
          "cds_length": 2445,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867171.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2351C>T",
          "hgvs_p": "p.Thr784Ile",
          "transcript": "NM_001204744.2",
          "protein_id": "NP_001191673.1",
          "transcript_support_level": null,
          "aa_start": 784,
          "aa_end": null,
          "aa_length": 807,
          "cds_start": 2351,
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          "cdna_start": null,
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          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001204744.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2351C>T",
          "hgvs_p": "p.Thr784Ile",
          "transcript": "ENST00000867179.1",
          "protein_id": "ENSP00000537238.1",
          "transcript_support_level": null,
          "aa_start": 784,
          "aa_end": null,
          "aa_length": 807,
          "cds_start": 2351,
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          "cds_length": 2424,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867179.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2336C>T",
          "hgvs_p": "p.Thr779Ile",
          "transcript": "ENST00000951240.1",
          "protein_id": "ENSP00000621299.1",
          "transcript_support_level": null,
          "aa_start": 779,
          "aa_end": null,
          "aa_length": 802,
          "cds_start": 2336,
          "cds_end": null,
          "cds_length": 2409,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951240.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2333C>T",
          "hgvs_p": "p.Thr778Ile",
          "transcript": "ENST00000867168.1",
          "protein_id": "ENSP00000537227.1",
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          "aa_start": 778,
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          "cds_start": 2333,
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          "cds_length": 2406,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000867168.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2300C>T",
          "hgvs_p": "p.Thr767Ile",
          "transcript": "NM_001204745.2",
          "protein_id": "NP_001191674.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 790,
          "cds_start": 2300,
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          "cds_length": 2373,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001204745.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
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          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2300C>T",
          "hgvs_p": "p.Thr767Ile",
          "transcript": "ENST00000565796.5",
          "protein_id": "ENSP00000454784.1",
          "transcript_support_level": 2,
          "aa_start": 767,
          "aa_end": null,
          "aa_length": 790,
          "cds_start": 2300,
          "cds_end": null,
          "cds_length": 2373,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000565796.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDH16",
          "gene_hgnc_id": 1755,
          "hgvs_c": "c.2300C>T",
          "hgvs_p": "p.Thr767Ile",
          "transcript": "ENST00000867163.1",
          "protein_id": "ENSP00000537222.1",
          "transcript_support_level": null,
          "aa_start": 767,
          "aa_end": null,
          "aa_length": 790,
          "cds_start": 2300,
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      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_004062.4",
          "gene_symbol": "CDH16",
          "hgnc_id": 1755,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2417C>T",
          "hgvs_p": "p.Thr806Ile"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}
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