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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: 6-35747399-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35747399&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 35747399,
      "ref": "A",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_001286574.2",
      "consequences": [
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARMC12",
          "gene_hgnc_id": 21099,
          "hgvs_c": "c.583A>G",
          "hgvs_p": "p.Met195Val",
          "transcript": "NM_001286574.2",
          "protein_id": "NP_001273503.1",
          "transcript_support_level": null,
          "aa_start": 195,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": 583,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": 660,
          "cdna_end": null,
          "cdna_length": 1309,
          "mane_select": "ENST00000373866.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARMC12",
          "gene_hgnc_id": 21099,
          "hgvs_c": "c.583A>G",
          "hgvs_p": "p.Met195Val",
          "transcript": "ENST00000373866.4",
          "protein_id": "ENSP00000362973.3",
          "transcript_support_level": 3,
          "aa_start": 195,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": 583,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": 660,
          "cdna_end": null,
          "cdna_length": 1309,
          "mane_select": "NM_001286574.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARMC12",
          "gene_hgnc_id": 21099,
          "hgvs_c": "c.664A>G",
          "hgvs_p": "p.Met222Val",
          "transcript": "ENST00000288065.6",
          "protein_id": "ENSP00000288065.2",
          "transcript_support_level": 1,
          "aa_start": 222,
          "aa_end": null,
          "aa_length": 367,
          "cds_start": 664,
          "cds_end": null,
          "cds_length": 1104,
          "cdna_start": 691,
          "cdna_end": null,
          "cdna_length": 1169,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARMC12",
          "gene_hgnc_id": 21099,
          "hgvs_c": "c.664A>G",
          "hgvs_p": "p.Met222Val",
          "transcript": "NM_145028.5",
          "protein_id": "NP_659465.2",
          "transcript_support_level": null,
          "aa_start": 222,
          "aa_end": null,
          "aa_length": 367,
          "cds_start": 664,
          "cds_end": null,
          "cds_length": 1104,
          "cdna_start": 741,
          "cdna_end": null,
          "cdna_length": 1390,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARMC12",
          "gene_hgnc_id": 21099,
          "hgvs_c": "c.583A>G",
          "hgvs_p": "p.Met195Val",
          "transcript": "NM_001286576.2",
          "protein_id": "NP_001273505.1",
          "transcript_support_level": null,
          "aa_start": 195,
          "aa_end": null,
          "aa_length": 330,
          "cds_start": 583,
          "cds_end": null,
          "cds_length": 993,
          "cdna_start": 660,
          "cdna_end": null,
          "cdna_length": 1113,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARMC12",
          "gene_hgnc_id": 21099,
          "hgvs_c": "c.583A>G",
          "hgvs_p": "p.Met195Val",
          "transcript": "ENST00000373869.7",
          "protein_id": "ENSP00000362976.3",
          "transcript_support_level": 2,
          "aa_start": 195,
          "aa_end": null,
          "aa_length": 330,
          "cds_start": 583,
          "cds_end": null,
          "cds_length": 993,
          "cdna_start": 660,
          "cdna_end": null,
          "cdna_length": 1111,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARMC12",
          "gene_hgnc_id": 21099,
          "hgvs_c": "c.664A>G",
          "hgvs_p": "p.Met222Val",
          "transcript": "XM_017010435.3",
          "protein_id": "XP_016865924.1",
          "transcript_support_level": null,
          "aa_start": 222,
          "aa_end": null,
          "aa_length": 367,
          "cds_start": 664,
          "cds_end": null,
          "cds_length": 1104,
          "cdna_start": 3017,
          "cdna_end": null,
          "cdna_length": 3666,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARMC12",
          "gene_hgnc_id": 21099,
          "hgvs_c": "c.664A>G",
          "hgvs_p": "p.Met222Val",
          "transcript": "XM_047418343.1",
          "protein_id": "XP_047274299.1",
          "transcript_support_level": null,
          "aa_start": 222,
          "aa_end": null,
          "aa_length": 367,
          "cds_start": 664,
          "cds_end": null,
          "cds_length": 1104,
          "cdna_start": 2061,
          "cdna_end": null,
          "cdna_length": 2710,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARMC12",
          "gene_hgnc_id": 21099,
          "hgvs_c": "c.664A>G",
          "hgvs_p": "p.Met222Val",
          "transcript": "XM_047418344.1",
          "protein_id": "XP_047274300.1",
          "transcript_support_level": null,
          "aa_start": 222,
          "aa_end": null,
          "aa_length": 367,
          "cds_start": 664,
          "cds_end": null,
          "cds_length": 1104,
          "cdna_start": 948,
          "cdna_end": null,
          "cdna_length": 1597,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARMC12",
          "gene_hgnc_id": 21099,
          "hgvs_c": "c.664A>G",
          "hgvs_p": "p.Met222Val",
          "transcript": "XM_047418345.1",
          "protein_id": "XP_047274301.1",
          "transcript_support_level": null,
          "aa_start": 222,
          "aa_end": null,
          "aa_length": 367,
          "cds_start": 664,
          "cds_end": null,
          "cds_length": 1104,
          "cdna_start": 855,
          "cdna_end": null,
          "cdna_length": 1504,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARMC12",
          "gene_hgnc_id": 21099,
          "hgvs_c": "c.664A>G",
          "hgvs_p": "p.Met222Val",
          "transcript": "XM_047418346.1",
          "protein_id": "XP_047274302.1",
          "transcript_support_level": null,
          "aa_start": 222,
          "aa_end": null,
          "aa_length": 367,
          "cds_start": 664,
          "cds_end": null,
          "cds_length": 1104,
          "cdna_start": 838,
          "cdna_end": null,
          "cdna_length": 1487,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARMC12",
          "gene_hgnc_id": 21099,
          "hgvs_c": "c.583A>G",
          "hgvs_p": "p.Met195Val",
          "transcript": "XM_047418347.1",
          "protein_id": "XP_047274303.1",
          "transcript_support_level": null,
          "aa_start": 195,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": 583,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": 3725,
          "cdna_end": null,
          "cdna_length": 4374,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARMC12",
          "gene_hgnc_id": 21099,
          "hgvs_c": "c.583A>G",
          "hgvs_p": "p.Met195Val",
          "transcript": "XM_047418348.1",
          "protein_id": "XP_047274304.1",
          "transcript_support_level": null,
          "aa_start": 195,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": 583,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": 774,
          "cdna_end": null,
          "cdna_length": 1423,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARMC12",
          "gene_hgnc_id": 21099,
          "hgvs_c": "c.469A>G",
          "hgvs_p": "p.Met157Val",
          "transcript": "XM_011514381.3",
          "protein_id": "XP_011512683.1",
          "transcript_support_level": null,
          "aa_start": 157,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": 469,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": 935,
          "cdna_end": null,
          "cdna_length": 1584,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARMC12",
          "gene_hgnc_id": 21099,
          "hgvs_c": "c.322A>G",
          "hgvs_p": "p.Met108Val",
          "transcript": "XM_011514382.3",
          "protein_id": "XP_011512684.1",
          "transcript_support_level": null,
          "aa_start": 108,
          "aa_end": null,
          "aa_length": 253,
          "cds_start": 322,
          "cds_end": null,
          "cds_length": 762,
          "cdna_start": 688,
          "cdna_end": null,
          "cdna_length": 1337,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "ARMC12",
      "gene_hgnc_id": 21099,
      "dbsnp": "rs749298045",
      "frequency_reference_population": 0.000006195549,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 10,
      "gnomad_exomes_af": 0.00000410428,
      "gnomad_genomes_af": 0.000026286,
      "gnomad_exomes_ac": 6,
      "gnomad_genomes_ac": 4,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.6833925247192383,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.193,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.175,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.19,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 4.922,
      "phylop100way_prediction": "Uncertain_significance",
      "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": 1,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PP2",
      "acmg_by_gene": [
        {
          "score": 1,
          "benign_score": 0,
          "pathogenic_score": 1,
          "criteria": [
            "PP2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001286574.2",
          "gene_symbol": "ARMC12",
          "hgnc_id": 21099,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.583A>G",
          "hgvs_p": "p.Met195Val"
        }
      ],
      "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
}