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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: 11-95865623-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=95865623&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 95865623,
      "ref": "T",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "ENST00000346299.10",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTMR2",
          "gene_hgnc_id": 7450,
          "hgvs_c": "c.240A>C",
          "hgvs_p": "p.Pro80Pro",
          "transcript": "NM_016156.6",
          "protein_id": "NP_057240.3",
          "transcript_support_level": null,
          "aa_start": 80,
          "aa_end": null,
          "aa_length": 643,
          "cds_start": 240,
          "cds_end": null,
          "cds_length": 1932,
          "cdna_start": 393,
          "cdna_end": null,
          "cdna_length": 4495,
          "mane_select": "ENST00000346299.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTMR2",
          "gene_hgnc_id": 7450,
          "hgvs_c": "c.240A>C",
          "hgvs_p": "p.Pro80Pro",
          "transcript": "ENST00000346299.10",
          "protein_id": "ENSP00000345752.6",
          "transcript_support_level": 1,
          "aa_start": 80,
          "aa_end": null,
          "aa_length": 643,
          "cds_start": 240,
          "cds_end": null,
          "cds_length": 1932,
          "cdna_start": 393,
          "cdna_end": null,
          "cdna_length": 4495,
          "mane_select": "NM_016156.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTMR2",
          "gene_hgnc_id": 7450,
          "hgvs_c": "c.24A>C",
          "hgvs_p": "p.Pro8Pro",
          "transcript": "ENST00000352297.11",
          "protein_id": "ENSP00000343737.7",
          "transcript_support_level": 1,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 571,
          "cds_start": 24,
          "cds_end": null,
          "cds_length": 1716,
          "cdna_start": 457,
          "cdna_end": null,
          "cdna_length": 3350,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTMR2",
          "gene_hgnc_id": 7450,
          "hgvs_c": "c.24A>C",
          "hgvs_p": "p.Pro8Pro",
          "transcript": "ENST00000393223.8",
          "protein_id": "ENSP00000376915.3",
          "transcript_support_level": 1,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 571,
          "cds_start": 24,
          "cds_end": null,
          "cds_length": 1716,
          "cdna_start": 501,
          "cdna_end": null,
          "cdna_length": 4601,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTMR2",
          "gene_hgnc_id": 7450,
          "hgvs_c": "c.240A>C",
          "hgvs_p": "p.Pro80Pro",
          "transcript": "NM_001440647.1",
          "protein_id": "NP_001427576.1",
          "transcript_support_level": null,
          "aa_start": 80,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 240,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": 393,
          "cdna_end": null,
          "cdna_length": 4411,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTMR2",
          "gene_hgnc_id": 7450,
          "hgvs_c": "c.240A>C",
          "hgvs_p": "p.Pro80Pro",
          "transcript": "NM_001440648.1",
          "protein_id": "NP_001427577.1",
          "transcript_support_level": null,
          "aa_start": 80,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": 240,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": 393,
          "cdna_end": null,
          "cdna_length": 4402,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTMR2",
          "gene_hgnc_id": 7450,
          "hgvs_c": "c.240A>C",
          "hgvs_p": "p.Pro80Pro",
          "transcript": "NM_001440649.1",
          "protein_id": "NP_001427578.1",
          "transcript_support_level": null,
          "aa_start": 80,
          "aa_end": null,
          "aa_length": 581,
          "cds_start": 240,
          "cds_end": null,
          "cds_length": 1746,
          "cdna_start": 393,
          "cdna_end": null,
          "cdna_length": 4309,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTMR2",
          "gene_hgnc_id": 7450,
          "hgvs_c": "c.240A>C",
          "hgvs_p": "p.Pro80Pro",
          "transcript": "NM_001440650.1",
          "protein_id": "NP_001427579.1",
          "transcript_support_level": null,
          "aa_start": 80,
          "aa_end": null,
          "aa_length": 581,
          "cds_start": 240,
          "cds_end": null,
          "cds_length": 1746,
          "cdna_start": 393,
          "cdna_end": null,
          "cdna_length": 4309,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTMR2",
          "gene_hgnc_id": 7450,
          "hgvs_c": "c.240A>C",
          "hgvs_p": "p.Pro80Pro",
          "transcript": "ENST00000675022.1",
          "protein_id": "ENSP00000502722.1",
          "transcript_support_level": null,
          "aa_start": 80,
          "aa_end": null,
          "aa_length": 581,
          "cds_start": 240,
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          "cds_length": 1746,
          "cdna_start": 409,
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          "cdna_length": 4323,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTMR2",
          "gene_hgnc_id": 7450,
          "hgvs_c": "c.240A>C",
          "hgvs_p": "p.Pro80Pro",
          "transcript": "NM_001440651.1",
          "protein_id": "NP_001427580.1",
          "transcript_support_level": null,
          "aa_start": 80,
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          "aa_length": 580,
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          "cdna_start": 393,
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          "mane_select": null,
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        },
        {
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          "consequences": [
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          "exon_rank": 6,
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          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "MTMR2",
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          "hgvs_c": "c.24A>C",
          "hgvs_p": "p.Pro8Pro",
          "transcript": "NM_001243571.2",
          "protein_id": "NP_001230500.1",
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          "cdna_start": 660,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "MTMR2",
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        {
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          "exon_rank": 7,
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          "intron_rank": null,
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          "gene_symbol": "MTMR2",
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        {
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          "intron_rank": null,
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          "gene_symbol": "MTMR2",
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          "hgvs_c": "c.24A>C",
          "hgvs_p": "p.Pro8Pro",
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          "protein_id": "NP_001427561.1",
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        {
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          ],
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        {
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          "gene_symbol": "MTMR2",
          "gene_hgnc_id": 7450,
          "hgvs_c": "c.24A>C",
          "hgvs_p": "p.Pro8Pro",
          "transcript": "NM_001440634.1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "MTMR2",
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          "transcript": "NM_001440635.1",
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        {
          "aa_ref": "P",
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          "gene_symbol": "MTMR2",
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        },
        {
          "aa_ref": "P",
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          "consequences": [
            "synonymous_variant"
          ],
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          "gene_symbol": "MTMR2",
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          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 5108,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTMR2",
          "gene_hgnc_id": 7450,
          "hgvs_c": "n.*178A>C",
          "hgvs_p": null,
          "transcript": "ENST00000675910.1",
          "protein_id": "ENSP00000502622.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 4657,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTMR2",
          "gene_hgnc_id": 7450,
          "hgvs_c": "n.*37A>C",
          "hgvs_p": null,
          "transcript": "ENST00000676146.1",
          "protein_id": "ENSP00000502583.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4396,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTMR2",
          "gene_hgnc_id": 7450,
          "hgvs_c": "n.*153A>C",
          "hgvs_p": null,
          "transcript": "ENST00000676177.1",
          "protein_id": "ENSP00000501635.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4632,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "MTMR2",
      "gene_hgnc_id": 7450,
      "dbsnp": "rs201920176",
      "frequency_reference_population": 0.00029121715,
      "hom_count_reference_population": 3,
      "allele_count_reference_population": 470,
      "gnomad_exomes_af": 0.000305145,
      "gnomad_genomes_af": 0.000157567,
      "gnomad_exomes_ac": 446,
      "gnomad_genomes_ac": 24,
      "gnomad_exomes_homalt": 3,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.49000000953674316,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.019999999552965164,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.49,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.042,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.02,
      "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": -21,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
      "acmg_by_gene": [
        {
          "score": -21,
          "benign_score": 21,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000346299.10",
          "gene_symbol": "MTMR2",
          "hgnc_id": 7450,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.240A>C",
          "hgvs_p": "p.Pro80Pro"
        }
      ],
      "clinvar_disease": "Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease type 4,Charcot-Marie-Tooth disease type 4B1,Inborn genetic diseases",
      "clinvar_classification": "Benign/Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:3 B:1",
      "phenotype_combined": "Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4B1|Charcot-Marie-Tooth disease|Inborn genetic diseases",
      "pathogenicity_classification_combined": "Benign/Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}