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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: 13-35475441-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=35475441&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "13",
      "pos": 35475441,
      "ref": "T",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_005584.5",
      "consequences": [
        {
          "aa_ref": "Q",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 1,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAB21L1",
          "gene_hgnc_id": 6757,
          "hgvs_c": "c.698A>C",
          "hgvs_p": "p.Gln233Pro",
          "transcript": "NM_005584.5",
          "protein_id": "NP_005575.1",
          "transcript_support_level": null,
          "aa_start": 233,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": 698,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000379919.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005584.5"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 1,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAB21L1",
          "gene_hgnc_id": 6757,
          "hgvs_c": "c.698A>C",
          "hgvs_p": "p.Gln233Pro",
          "transcript": "ENST00000379919.6",
          "protein_id": "ENSP00000369251.4",
          "transcript_support_level": 6,
          "aa_start": 233,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": 698,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_005584.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000379919.6"
        },
        {
          "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": 59,
          "intron_rank": 41,
          "intron_rank_end": null,
          "gene_symbol": "NBEA",
          "gene_hgnc_id": 7648,
          "hgvs_c": "c.6585+2905T>G",
          "hgvs_p": null,
          "transcript": "NM_001385012.1",
          "protein_id": "NP_001371941.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2967,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 8904,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000379939.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001385012.1"
        },
        {
          "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": 59,
          "intron_rank": 41,
          "intron_rank_end": null,
          "gene_symbol": "NBEA",
          "gene_hgnc_id": 7648,
          "hgvs_c": "c.6585+2905T>G",
          "hgvs_p": null,
          "transcript": "ENST00000379939.7",
          "protein_id": "ENSP00000369271.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2967,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 8904,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001385012.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000379939.7"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAB21L1",
          "gene_hgnc_id": 6757,
          "hgvs_c": "c.698A>C",
          "hgvs_p": "p.Gln233Pro",
          "transcript": "ENST00000707125.1",
          "protein_id": "ENSP00000516753.1",
          "transcript_support_level": null,
          "aa_start": 233,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": 698,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000707125.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAB21L1",
          "gene_hgnc_id": 6757,
          "hgvs_c": "c.698A>C",
          "hgvs_p": "p.Gln233Pro",
          "transcript": "ENST00000951518.1",
          "protein_id": "ENSP00000621577.1",
          "transcript_support_level": null,
          "aa_start": 233,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": 698,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951518.1"
        },
        {
          "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": 58,
          "intron_rank": 40,
          "intron_rank_end": null,
          "gene_symbol": "NBEA",
          "gene_hgnc_id": 7648,
          "hgvs_c": "c.6576+2905T>G",
          "hgvs_p": null,
          "transcript": "NM_001379245.1",
          "protein_id": "NP_001366174.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2964,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 8895,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001379245.1"
        },
        {
          "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": 58,
          "intron_rank": 41,
          "intron_rank_end": null,
          "gene_symbol": "NBEA",
          "gene_hgnc_id": 7648,
          "hgvs_c": "c.6585+2905T>G",
          "hgvs_p": null,
          "transcript": "NM_015678.5",
          "protein_id": "NP_056493.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2946,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 8841,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015678.5"
        },
        {
          "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": 58,
          "intron_rank": 41,
          "intron_rank_end": null,
          "gene_symbol": "NBEA",
          "gene_hgnc_id": 7648,
          "hgvs_c": "c.6585+2905T>G",
          "hgvs_p": null,
          "transcript": "ENST00000400445.8",
          "protein_id": "ENSP00000383295.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2946,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 8841,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000400445.8"
        },
        {
          "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": 42,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "NBEA",
          "gene_hgnc_id": 7648,
          "hgvs_c": "c.4431+2905T>G",
          "hgvs_p": null,
          "transcript": "ENST00000688626.1",
          "protein_id": "ENSP00000509239.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2228,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6687,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "NBEA",
          "gene_hgnc_id": 7648,
          "hgvs_c": "c.4335+2905T>G",
          "hgvs_p": null,
          "transcript": "ENST00000688363.1",
          "protein_id": "ENSP00000510178.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2198,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6597,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000688363.1"
        },
        {
          "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": 32,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "NBEA",
          "gene_hgnc_id": 7648,
          "hgvs_c": "c.2229+2905T>G",
          "hgvs_p": null,
          "transcript": "ENST00000629018.4",
          "protein_id": "ENSP00000486239.3",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 1494,
          "cds_start": null,
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          "cds_length": 4485,
          "cdna_start": null,
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          "cdna_length": null,
          "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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          "exon_count": 21,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NBEA",
          "gene_hgnc_id": 7648,
          "hgvs_c": "c.807+2905T>G",
          "hgvs_p": null,
          "transcript": "ENST00000686320.1",
          "protein_id": "ENSP00000508724.1",
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          ],
          "exon_rank": null,
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          "exon_count": 19,
          "intron_rank": 2,
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          "gene_symbol": "NBEA",
          "gene_hgnc_id": 7648,
          "hgvs_c": "c.-37+2905T>G",
          "hgvs_p": null,
          "transcript": "ENST00000685686.1",
          "protein_id": "ENSP00000509879.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "gene_symbol": "NBEA",
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          "transcript": "ENST00000686741.1",
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          ],
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          "exon_count": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NBEA",
          "gene_hgnc_id": 7648,
          "hgvs_c": "c.-37+2905T>G",
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          "transcript": "ENST00000686952.1",
          "protein_id": "ENSP00000509331.1",
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          "cds_start": null,
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        {
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          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NBEA",
          "gene_hgnc_id": 7648,
          "hgvs_c": "c.-37+2905T>G",
          "hgvs_p": null,
          "transcript": "ENST00000689454.1",
          "protein_id": "ENSP00000509389.1",
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          "hgvs_c": "c.-159+2905T>G",
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        {
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          "gene_symbol": "NBEA",
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          "transcript": "ENST00000688335.1",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 19,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NBEA",
          "gene_hgnc_id": 7648,
          "hgvs_c": "c.-37+2905T>G",
          "hgvs_p": null,
          "transcript": "ENST00000691561.1",
          "protein_id": "ENSP00000510517.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 734,
          "cds_start": null,
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          "cds_length": 2205,
          "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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      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP5",
      "acmg_by_gene": [
        {
          "score": 3,
          "benign_score": 0,
          "pathogenic_score": 3,
          "criteria": [
            "PM2",
            "PP5"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_005584.5",
          "gene_symbol": "MAB21L1",
          "hgnc_id": 6757,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.698A>C",
          "hgvs_p": "p.Gln233Pro"
        },
        {
          "score": 3,
          "benign_score": 0,
          "pathogenic_score": 3,
          "criteria": [
            "PM2",
            "PP5"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001385012.1",
          "gene_symbol": "NBEA",
          "hgnc_id": 7648,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.6585+2905T>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": " and genital syndrome, craniofacial, ocular,Cerebellar",
      "clinvar_classification": "Pathogenic",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "Cerebellar, ocular, craniofacial, and genital syndrome",
      "pathogenicity_classification_combined": "Pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}