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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: 7-88125600-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=88125600&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 88125600,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000413139.2",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "NM_001324418.2",
          "protein_id": "NP_001311347.1",
          "transcript_support_level": null,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 964,
          "cds_start": 619,
          "cds_end": null,
          "cds_length": 2895,
          "cdna_start": 834,
          "cdna_end": null,
          "cdna_length": 9508,
          "mane_select": "ENST00000413139.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "ENST00000413139.2",
          "protein_id": "ENSP00000412085.2",
          "transcript_support_level": 5,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 964,
          "cds_start": 619,
          "cds_end": null,
          "cds_length": 2895,
          "cdna_start": 834,
          "cdna_end": null,
          "cdna_length": 9508,
          "mane_select": "NM_001324418.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "ENST00000265727.11",
          "protein_id": "ENSP00000265727.7",
          "transcript_support_level": 1,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 619,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": 698,
          "cdna_end": null,
          "cdna_length": 2891,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "ENST00000398209.7",
          "protein_id": "ENSP00000381267.3",
          "transcript_support_level": 1,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 899,
          "cds_start": 619,
          "cds_end": null,
          "cds_length": 2700,
          "cdna_start": 665,
          "cdna_end": null,
          "cdna_length": 9144,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "ENST00000398204.8",
          "protein_id": "ENSP00000381262.4",
          "transcript_support_level": 1,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 870,
          "cds_start": 619,
          "cds_end": null,
          "cds_length": 2613,
          "cdna_start": 942,
          "cdna_end": null,
          "cdna_length": 9334,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "ENST00000398201.8",
          "protein_id": "ENSP00000381260.4",
          "transcript_support_level": 1,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 859,
          "cds_start": 619,
          "cds_end": null,
          "cds_length": 2580,
          "cdna_start": 738,
          "cdna_end": null,
          "cdna_length": 2784,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "n.834G>A",
          "hgvs_p": null,
          "transcript": "ENST00000439864.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2576,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.616G>A",
          "hgvs_p": "p.Val206Ile",
          "transcript": "NM_001324419.2",
          "protein_id": "NP_001311348.1",
          "transcript_support_level": null,
          "aa_start": 206,
          "aa_end": null,
          "aa_length": 963,
          "cds_start": 616,
          "cds_end": null,
          "cds_length": 2892,
          "cdna_start": 831,
          "cdna_end": null,
          "cdna_length": 9505,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.670G>A",
          "hgvs_p": "p.Val224Ile",
          "transcript": "NM_001391975.1",
          "protein_id": "NP_001378904.1",
          "transcript_support_level": null,
          "aa_start": 224,
          "aa_end": null,
          "aa_length": 953,
          "cds_start": 670,
          "cds_end": null,
          "cds_length": 2862,
          "cdna_start": 885,
          "cdna_end": null,
          "cdna_length": 9475,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "NM_001391976.1",
          "protein_id": "NP_001378905.1",
          "transcript_support_level": null,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 943,
          "cds_start": 619,
          "cds_end": null,
          "cds_length": 2832,
          "cdna_start": 834,
          "cdna_end": null,
          "cdna_length": 9445,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
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          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "NM_001324420.2",
          "protein_id": "NP_001311349.1",
          "transcript_support_level": null,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 935,
          "cds_start": 619,
          "cds_end": null,
          "cds_length": 2808,
          "cdna_start": 834,
          "cdna_end": null,
          "cdna_length": 9421,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "NM_001391977.1",
          "protein_id": "NP_001378906.1",
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          "cdna_start": 834,
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        {
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          "strand": true,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ADAM22",
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          "hgvs_c": "c.616G>A",
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        {
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          "protein_coding": true,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "NM_021723.5",
          "protein_id": "NP_068369.1",
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        {
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.616G>A",
          "hgvs_p": "p.Val206Ile",
          "transcript": "NM_001391979.1",
          "protein_id": "NP_001378908.1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "ADAM22",
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        {
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
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          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile",
          "transcript": "NM_016351.6",
          "protein_id": "NP_057435.2",
          "transcript_support_level": null,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 870,
          "cds_start": 619,
          "cds_end": null,
          "cds_length": 2613,
          "cdna_start": 834,
          "cdna_end": null,
          "cdna_length": 9226,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
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          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "n.292G>A",
          "hgvs_p": null,
          "transcript": "ENST00000682337.1",
          "protein_id": "ENSP00000507249.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2361,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "ADAM22",
      "gene_hgnc_id": 201,
      "dbsnp": "rs17255978",
      "frequency_reference_population": 0.04939947,
      "hom_count_reference_population": 2605,
      "allele_count_reference_population": 78558,
      "gnomad_exomes_af": 0.0475003,
      "gnomad_genomes_af": 0.0673625,
      "gnomad_exomes_ac": 68315,
      "gnomad_genomes_ac": 10243,
      "gnomad_exomes_homalt": 2176,
      "gnomad_genomes_homalt": 429,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.0014812350273132324,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.055,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0716,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.62,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.109,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "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": -13,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6,BA1",
      "acmg_by_gene": [
        {
          "score": -13,
          "benign_score": 13,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000413139.2",
          "gene_symbol": "ADAM22",
          "hgnc_id": 201,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "Unknown,AR",
          "hgvs_c": "c.619G>A",
          "hgvs_p": "p.Val207Ile"
        }
      ],
      "clinvar_disease": "ADAM22-related disorder",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "ADAM22-related disorder",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}