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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: 3-126107216-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=126107216&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 126107216,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001270364.2",
      "consequences": [
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2378A>G",
          "hgvs_p": "p.Asp793Gly",
          "transcript": "NM_012190.4",
          "protein_id": "NP_036322.2",
          "transcript_support_level": null,
          "aa_start": 793,
          "aa_end": null,
          "aa_length": 902,
          "cds_start": 2378,
          "cds_end": null,
          "cds_length": 2709,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000393434.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_012190.4"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2378A>G",
          "hgvs_p": "p.Asp793Gly",
          "transcript": "ENST00000393434.7",
          "protein_id": "ENSP00000377083.3",
          "transcript_support_level": 1,
          "aa_start": 793,
          "aa_end": null,
          "aa_length": 902,
          "cds_start": 2378,
          "cds_end": null,
          "cds_length": 2709,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_012190.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393434.7"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2408A>G",
          "hgvs_p": "p.Asp803Gly",
          "transcript": "ENST00000273450.7",
          "protein_id": "ENSP00000273450.3",
          "transcript_support_level": 1,
          "aa_start": 803,
          "aa_end": null,
          "aa_length": 912,
          "cds_start": 2408,
          "cds_end": null,
          "cds_length": 2739,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000273450.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.*609A>G",
          "hgvs_p": null,
          "transcript": "ENST00000393431.6",
          "protein_id": "ENSP00000377081.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393431.6"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2408A>G",
          "hgvs_p": "p.Asp803Gly",
          "transcript": "NM_001270364.2",
          "protein_id": "NP_001257293.1",
          "transcript_support_level": null,
          "aa_start": 803,
          "aa_end": null,
          "aa_length": 912,
          "cds_start": 2408,
          "cds_end": null,
          "cds_length": 2739,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001270364.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2399A>G",
          "hgvs_p": "p.Asp800Gly",
          "transcript": "ENST00000900792.1",
          "protein_id": "ENSP00000570851.1",
          "transcript_support_level": null,
          "aa_start": 800,
          "aa_end": null,
          "aa_length": 909,
          "cds_start": 2399,
          "cds_end": null,
          "cds_length": 2730,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000900792.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2390A>G",
          "hgvs_p": "p.Asp797Gly",
          "transcript": "ENST00000900786.1",
          "protein_id": "ENSP00000570845.1",
          "transcript_support_level": null,
          "aa_start": 797,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2390,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000900786.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2378A>G",
          "hgvs_p": "p.Asp793Gly",
          "transcript": "ENST00000472186.5",
          "protein_id": "ENSP00000420293.1",
          "transcript_support_level": 5,
          "aa_start": 793,
          "aa_end": null,
          "aa_length": 902,
          "cds_start": 2378,
          "cds_end": null,
          "cds_length": 2709,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000472186.5"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2378A>G",
          "hgvs_p": "p.Asp793Gly",
          "transcript": "ENST00000900789.1",
          "protein_id": "ENSP00000570848.1",
          "transcript_support_level": null,
          "aa_start": 793,
          "aa_end": null,
          "aa_length": 902,
          "cds_start": 2378,
          "cds_end": null,
          "cds_length": 2709,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000900789.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2378A>G",
          "hgvs_p": "p.Asp793Gly",
          "transcript": "ENST00000900793.1",
          "protein_id": "ENSP00000570852.1",
          "transcript_support_level": null,
          "aa_start": 793,
          "aa_end": null,
          "aa_length": 902,
          "cds_start": 2378,
          "cds_end": null,
          "cds_length": 2709,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000900793.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2378A>G",
          "hgvs_p": "p.Asp793Gly",
          "transcript": "ENST00000961075.1",
          "protein_id": "ENSP00000631134.1",
          "transcript_support_level": null,
          "aa_start": 793,
          "aa_end": null,
          "aa_length": 902,
          "cds_start": 2378,
          "cds_end": null,
          "cds_length": 2709,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961075.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2378A>G",
          "hgvs_p": "p.Asp793Gly",
          "transcript": "ENST00000961077.1",
          "protein_id": "ENSP00000631136.1",
          "transcript_support_level": null,
          "aa_start": 793,
          "aa_end": null,
          "aa_length": 902,
          "cds_start": 2378,
          "cds_end": null,
          "cds_length": 2709,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961077.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2378A>G",
          "hgvs_p": "p.Asp793Gly",
          "transcript": "ENST00000961081.1",
          "protein_id": "ENSP00000631140.1",
          "transcript_support_level": null,
          "aa_start": 793,
          "aa_end": null,
          "aa_length": 902,
          "cds_start": 2378,
          "cds_end": null,
          "cds_length": 2709,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961081.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2378A>G",
          "hgvs_p": "p.Asp793Gly",
          "transcript": "ENST00000961087.1",
          "protein_id": "ENSP00000631146.1",
          "transcript_support_level": null,
          "aa_start": 793,
          "aa_end": null,
          "aa_length": 902,
          "cds_start": 2378,
          "cds_end": null,
          "cds_length": 2709,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961087.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2378A>G",
          "hgvs_p": "p.Asp793Gly",
          "transcript": "ENST00000961078.1",
          "protein_id": "ENSP00000631137.1",
          "transcript_support_level": null,
          "aa_start": 793,
          "aa_end": null,
          "aa_length": 901,
          "cds_start": 2378,
          "cds_end": null,
          "cds_length": 2706,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961078.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2372A>G",
          "hgvs_p": "p.Asp791Gly",
          "transcript": "ENST00000900783.1",
          "protein_id": "ENSP00000570842.1",
          "transcript_support_level": null,
          "aa_start": 791,
          "aa_end": null,
          "aa_length": 900,
          "cds_start": 2372,
          "cds_end": null,
          "cds_length": 2703,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000900783.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2369A>G",
          "hgvs_p": "p.Asp790Gly",
          "transcript": "ENST00000961085.1",
          "protein_id": "ENSP00000631144.1",
          "transcript_support_level": null,
          "aa_start": 790,
          "aa_end": null,
          "aa_length": 899,
          "cds_start": 2369,
          "cds_end": null,
          "cds_length": 2700,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961085.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2351A>G",
          "hgvs_p": "p.Asp784Gly",
          "transcript": "ENST00000900785.1",
          "protein_id": "ENSP00000570844.1",
          "transcript_support_level": null,
          "aa_start": 784,
          "aa_end": null,
          "aa_length": 893,
          "cds_start": 2351,
          "cds_end": null,
          "cds_length": 2682,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000900785.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2333A>G",
          "hgvs_p": "p.Asp778Gly",
          "transcript": "ENST00000900787.1",
          "protein_id": "ENSP00000570846.1",
          "transcript_support_level": null,
          "aa_start": 778,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": 2333,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000900787.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.2333A>G",
          "hgvs_p": "p.Asp778Gly",
          "transcript": "ENST00000961086.1",
          "protein_id": "ENSP00000631145.1",
          "transcript_support_level": null,
          "aa_start": 778,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": 2333,
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      "computational_score_selected": 0.0026737451553344727,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
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      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "revel_prediction": "Benign",
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      "bayesdelnoaf_score": -0.34,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 3.98,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.05,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": -12,
      "acmg_classification": "Benign",
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      "acmg_by_gene": [
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          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
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            "BA1"
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          "verdict": "Benign",
          "transcript": "NM_001270364.2",
          "gene_symbol": "ALDH1L1",
          "hgnc_id": 3978,
          "effects": [
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        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
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            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000507924.2",
          "gene_symbol": "ALDH1L1-AS1",
          "hgnc_id": 40244,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.2745T>C",
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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
}