← Back to variant description

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: 6-107154668-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=107154668&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 107154668,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_020381.4",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PDSS2",
          "gene_hgnc_id": 23041,
          "hgvs_c": "c.1151C>T",
          "hgvs_p": "p.Ala384Val",
          "transcript": "NM_020381.4",
          "protein_id": "NP_065114.3",
          "transcript_support_level": null,
          "aa_start": 384,
          "aa_end": null,
          "aa_length": 399,
          "cds_start": 1151,
          "cds_end": null,
          "cds_length": 1200,
          "cdna_start": 1430,
          "cdna_end": null,
          "cdna_length": 3536,
          "mane_select": "ENST00000369037.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PDSS2",
          "gene_hgnc_id": 23041,
          "hgvs_c": "c.1151C>T",
          "hgvs_p": "p.Ala384Val",
          "transcript": "ENST00000369037.9",
          "protein_id": "ENSP00000358033.4",
          "transcript_support_level": 1,
          "aa_start": 384,
          "aa_end": null,
          "aa_length": 399,
          "cds_start": 1151,
          "cds_end": null,
          "cds_length": 1200,
          "cdna_start": 1430,
          "cdna_end": null,
          "cdna_length": 3536,
          "mane_select": "NM_020381.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PDSS2",
          "gene_hgnc_id": 23041,
          "hgvs_c": "c.1349C>T",
          "hgvs_p": "p.Ala450Val",
          "transcript": "XM_011535956.4",
          "protein_id": "XP_011534258.1",
          "transcript_support_level": null,
          "aa_start": 450,
          "aa_end": null,
          "aa_length": 465,
          "cds_start": 1349,
          "cds_end": null,
          "cds_length": 1398,
          "cdna_start": 1628,
          "cdna_end": null,
          "cdna_length": 3734,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PDSS2",
          "gene_hgnc_id": 23041,
          "hgvs_c": "c.1217C>T",
          "hgvs_p": "p.Ala406Val",
          "transcript": "XM_011535957.4",
          "protein_id": "XP_011534259.1",
          "transcript_support_level": null,
          "aa_start": 406,
          "aa_end": null,
          "aa_length": 421,
          "cds_start": 1217,
          "cds_end": null,
          "cds_length": 1266,
          "cdna_start": 1496,
          "cdna_end": null,
          "cdna_length": 3602,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PDSS2",
          "gene_hgnc_id": 23041,
          "hgvs_c": "c.1214C>T",
          "hgvs_p": "p.Ala405Val",
          "transcript": "XM_011535958.4",
          "protein_id": "XP_011534260.1",
          "transcript_support_level": null,
          "aa_start": 405,
          "aa_end": null,
          "aa_length": 420,
          "cds_start": 1214,
          "cds_end": null,
          "cds_length": 1263,
          "cdna_start": 1493,
          "cdna_end": null,
          "cdna_length": 3599,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PDSS2",
          "gene_hgnc_id": 23041,
          "hgvs_c": "c.1043C>T",
          "hgvs_p": "p.Ala348Val",
          "transcript": "XM_047419096.1",
          "protein_id": "XP_047275052.1",
          "transcript_support_level": null,
          "aa_start": 348,
          "aa_end": null,
          "aa_length": 363,
          "cds_start": 1043,
          "cds_end": null,
          "cds_length": 1092,
          "cdna_start": 1322,
          "cdna_end": null,
          "cdna_length": 3428,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PDSS2",
          "gene_hgnc_id": 23041,
          "hgvs_c": "c.1019C>T",
          "hgvs_p": "p.Ala340Val",
          "transcript": "XM_011535959.4",
          "protein_id": "XP_011534261.1",
          "transcript_support_level": null,
          "aa_start": 340,
          "aa_end": null,
          "aa_length": 355,
          "cds_start": 1019,
          "cds_end": null,
          "cds_length": 1068,
          "cdna_start": 1298,
          "cdna_end": null,
          "cdna_length": 3404,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PDSS2",
          "gene_hgnc_id": 23041,
          "hgvs_c": "c.1016C>T",
          "hgvs_p": "p.Ala339Val",
          "transcript": "XM_047419097.1",
          "protein_id": "XP_047275053.1",
          "transcript_support_level": null,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 354,
          "cds_start": 1016,
          "cds_end": null,
          "cds_length": 1065,
          "cdna_start": 1295,
          "cdna_end": null,
          "cdna_length": 3401,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PDSS2",
          "gene_hgnc_id": 23041,
          "hgvs_c": "c.941C>T",
          "hgvs_p": "p.Ala314Val",
          "transcript": "XM_011535960.4",
          "protein_id": "XP_011534262.1",
          "transcript_support_level": null,
          "aa_start": 314,
          "aa_end": null,
          "aa_length": 329,
          "cds_start": 941,
          "cds_end": null,
          "cds_length": 990,
          "cdna_start": 1250,
          "cdna_end": null,
          "cdna_length": 3356,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PDSS2",
          "gene_hgnc_id": 23041,
          "hgvs_c": "c.893C>T",
          "hgvs_p": "p.Ala298Val",
          "transcript": "XM_047419098.1",
          "protein_id": "XP_047275054.1",
          "transcript_support_level": null,
          "aa_start": 298,
          "aa_end": null,
          "aa_length": 313,
          "cds_start": 893,
          "cds_end": null,
          "cds_length": 942,
          "cdna_start": 1099,
          "cdna_end": null,
          "cdna_length": 3205,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PDSS2",
          "gene_hgnc_id": 23041,
          "hgvs_c": "c.884C>T",
          "hgvs_p": "p.Ala295Val",
          "transcript": "XM_047419099.1",
          "protein_id": "XP_047275055.1",
          "transcript_support_level": null,
          "aa_start": 295,
          "aa_end": null,
          "aa_length": 310,
          "cds_start": 884,
          "cds_end": null,
          "cds_length": 933,
          "cdna_start": 1163,
          "cdna_end": null,
          "cdna_length": 3269,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PDSS2",
          "gene_hgnc_id": 23041,
          "hgvs_c": "c.845C>T",
          "hgvs_p": "p.Ala282Val",
          "transcript": "XM_011535961.4",
          "protein_id": "XP_011534263.1",
          "transcript_support_level": null,
          "aa_start": 282,
          "aa_end": null,
          "aa_length": 297,
          "cds_start": 845,
          "cds_end": null,
          "cds_length": 894,
          "cdna_start": 1124,
          "cdna_end": null,
          "cdna_length": 3230,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PDSS2",
          "gene_hgnc_id": 23041,
          "hgvs_c": "c.809C>T",
          "hgvs_p": "p.Ala270Val",
          "transcript": "XM_047419100.1",
          "protein_id": "XP_047275056.1",
          "transcript_support_level": null,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 285,
          "cds_start": 809,
          "cds_end": null,
          "cds_length": 858,
          "cdna_start": 1312,
          "cdna_end": null,
          "cdna_length": 3418,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PDSS2",
          "gene_hgnc_id": 23041,
          "hgvs_c": "c.710C>T",
          "hgvs_p": "p.Ala237Val",
          "transcript": "XM_047419101.1",
          "protein_id": "XP_047275057.1",
          "transcript_support_level": null,
          "aa_start": 237,
          "aa_end": null,
          "aa_length": 252,
          "cds_start": 710,
          "cds_end": null,
          "cds_length": 759,
          "cdna_start": 989,
          "cdna_end": null,
          "cdna_length": 3095,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "PDSS2",
      "gene_hgnc_id": 23041,
      "dbsnp": "rs1236270228",
      "frequency_reference_population": 0.0000013681463,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 2,
      "gnomad_exomes_af": 0.00000136815,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 2,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.7746858596801758,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.05999999865889549,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.447,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.7569,
      "alphamissense_prediction": "Pathogenic",
      "bayesdelnoaf_score": 0.1,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 8.174,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0.06,
      "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": 3,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP3",
      "acmg_by_gene": [
        {
          "score": 3,
          "benign_score": 0,
          "pathogenic_score": 3,
          "criteria": [
            "PM2",
            "PP3"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_020381.4",
          "gene_symbol": "PDSS2",
          "hgnc_id": 23041,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1151C>T",
          "hgvs_p": "p.Ala384Val"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}