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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: 10-73760284-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73760284&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 73760284,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_004922.4",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "NM_198597.3",
          "protein_id": "NP_940999.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1094,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3285,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000345254.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_198597.3"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "ENST00000345254.9",
          "protein_id": "ENSP00000321845.6",
          "transcript_support_level": 1,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1094,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3285,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_198597.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000345254.9"
        },
        {
          "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": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "n.748C>T",
          "hgvs_p": null,
          "transcript": "ENST00000465076.5",
          "protein_id": "ENSP00000437000.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000465076.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "ENST00000893972.1",
          "protein_id": "ENSP00000564031.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1096,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3291,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893972.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "ENST00000893965.1",
          "protein_id": "ENSP00000564024.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1095,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3288,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893965.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "NM_004922.4",
          "protein_id": "NP_004913.2",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1094,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3285,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004922.4"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "ENST00000339365.2",
          "protein_id": "ENSP00000343405.2",
          "transcript_support_level": 5,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1094,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3285,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000339365.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "ENST00000893967.1",
          "protein_id": "ENSP00000564026.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1094,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3285,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893967.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "ENST00000893970.1",
          "protein_id": "ENSP00000564029.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1094,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3285,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893970.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "ENST00000893971.1",
          "protein_id": "ENSP00000564030.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1094,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3285,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893971.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "ENST00000939918.1",
          "protein_id": "ENSP00000609977.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1094,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3285,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000939918.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "ENST00000939921.1",
          "protein_id": "ENSP00000609980.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1094,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3285,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000939921.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "ENST00000893963.1",
          "protein_id": "ENSP00000564022.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1092,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3279,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893963.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "ENST00000893966.1",
          "protein_id": "ENSP00000564025.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1081,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3246,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893966.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "ENST00000893962.1",
          "protein_id": "ENSP00000564021.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1068,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3207,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893962.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "ENST00000893969.1",
          "protein_id": "ENSP00000564028.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1068,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3207,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893969.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "ENST00000893961.1",
          "protein_id": "ENSP00000564020.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1066,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3201,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000893961.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "ENST00000939923.1",
          "protein_id": "ENSP00000609982.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1066,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3201,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000939923.1"
        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "ENST00000939925.1",
          "protein_id": "ENSP00000609984.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1066,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3201,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000939925.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SEC24C",
          "gene_hgnc_id": 10705,
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser",
          "transcript": "ENST00000893968.1",
          "protein_id": "ENSP00000564027.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 1055,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 3168,
          "cdna_start": null,
          "cdna_end": null,
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      "splice_source_selected": "max_spliceai",
      "revel_score": 0.131,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0655,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.41,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 2.175,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.12,
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_004922.4",
          "gene_symbol": "SEC24C",
          "hgnc_id": 10705,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.748C>T",
          "hgvs_p": "p.Pro250Ser"
        },
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000759011.1",
          "gene_symbol": "ENSG00000288823",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.235-8416G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}