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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: 6-29944596-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=29944596&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
  "variants": [
    {
      "chr": "6",
      "pos": 29944596,
      "ref": "T",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000376809.10",
      "consequences": [
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.992T>G",
          "hgvs_p": "p.Met331Arg",
          "transcript": "NM_002116.8",
          "protein_id": "NP_002107.3",
          "transcript_support_level": null,
          "aa_start": 331,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": 992,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": 1014,
          "cdna_end": null,
          "cdna_length": 1535,
          "mane_select": "ENST00000376809.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.992T>G",
          "hgvs_p": "p.Met331Arg",
          "transcript": "ENST00000376809.10",
          "protein_id": "ENSP00000366005.5",
          "transcript_support_level": 6,
          "aa_start": 331,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": 992,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": 1014,
          "cdna_end": null,
          "cdna_length": 1535,
          "mane_select": "NM_002116.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "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": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.992T>G",
          "hgvs_p": "p.Met331Arg",
          "transcript": "ENST00000706894.1",
          "protein_id": "ENSP00000516610.1",
          "transcript_support_level": null,
          "aa_start": 331,
          "aa_end": null,
          "aa_length": 394,
          "cds_start": 992,
          "cds_end": null,
          "cds_length": 1185,
          "cdna_start": 1268,
          "cdna_end": null,
          "cdna_length": 1841,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.992T>G",
          "hgvs_p": "p.Met331Arg",
          "transcript": "ENST00000376806.9",
          "protein_id": "ENSP00000366002.5",
          "transcript_support_level": 6,
          "aa_start": 331,
          "aa_end": null,
          "aa_length": 371,
          "cds_start": 992,
          "cds_end": null,
          "cds_length": 1116,
          "cdna_start": 1301,
          "cdna_end": null,
          "cdna_length": 1854,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.992T>G",
          "hgvs_p": "p.Met331Arg",
          "transcript": "ENST00000706898.1",
          "protein_id": "ENSP00000516611.1",
          "transcript_support_level": null,
          "aa_start": 331,
          "aa_end": null,
          "aa_length": 371,
          "cds_start": 992,
          "cds_end": null,
          "cds_length": 1116,
          "cdna_start": 1268,
          "cdna_end": null,
          "cdna_length": 1785,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.992T>G",
          "hgvs_p": "p.Met331Arg",
          "transcript": "ENST00000706904.1",
          "protein_id": "ENSP00000516615.1",
          "transcript_support_level": null,
          "aa_start": 331,
          "aa_end": null,
          "aa_length": 366,
          "cds_start": 992,
          "cds_end": null,
          "cds_length": 1101,
          "cdna_start": 1268,
          "cdna_end": null,
          "cdna_length": 3260,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.992T>G",
          "hgvs_p": "p.Met331Arg",
          "transcript": "ENST00000396634.5",
          "protein_id": "ENSP00000379873.1",
          "transcript_support_level": 6,
          "aa_start": 331,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": 992,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": 1333,
          "cdna_end": null,
          "cdna_length": 1868,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.992T>G",
          "hgvs_p": "p.Met331Arg",
          "transcript": "ENST00000706901.1",
          "protein_id": "ENSP00000516612.1",
          "transcript_support_level": null,
          "aa_start": 331,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": 992,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": 1268,
          "cdna_end": null,
          "cdna_length": 2395,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.992T>G",
          "hgvs_p": "p.Met331Arg",
          "transcript": "ENST00000706905.1",
          "protein_id": "ENSP00000516616.1",
          "transcript_support_level": null,
          "aa_start": 331,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": 992,
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          "cds_length": 1098,
          "cdna_start": 1234,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "c.908T>G",
          "hgvs_p": "p.Met303Arg",
          "transcript": "ENST00000706900.1",
          "protein_id": "ENSP00000516617.1",
          "transcript_support_level": null,
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          "cds_start": 908,
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          "cdna_start": 954,
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "HLA-A",
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          "hgvs_c": "c.884T>G",
          "hgvs_p": "p.Met295Arg",
          "transcript": "ENST00000714446.1",
          "protein_id": "ENSP00000519715.1",
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        {
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          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "HLA-A",
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          "hgvs_c": "n.1233T>G",
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        {
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          "consequences": [
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          ],
          "exon_rank": 4,
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          "intron_rank": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "HLA-A",
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          "hgvs_c": "n.1235T>G",
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          "transcript": "ENST00000495183.5",
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        },
        {
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          ],
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        {
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          "strand": true,
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          ],
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          "exon_count": 4,
          "intron_rank": null,
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          "gene_symbol": "HLA-A",
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          "hgvs_c": "n.1948T>G",
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "HLA-A",
          "gene_hgnc_id": 4931,
          "hgvs_c": "n.1026T>G",
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          "consequences": [
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          ],
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          "intron_rank": null,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "HLA-A",
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "HLA-A",
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "HLA-A",
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          "hgvs_c": "n.1846T>G",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  ],
  "message": null
}