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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: 8-97725521-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=97725521&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 97725521,
      "ref": "C",
      "alt": "T",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_001363137.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTDH",
          "gene_hgnc_id": 29608,
          "hgvs_c": "c.*851C>T",
          "hgvs_p": null,
          "transcript": "NM_178812.4",
          "protein_id": "NP_848927.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 582,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1749,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000336273.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_178812.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTDH",
          "gene_hgnc_id": 29608,
          "hgvs_c": "c.*851C>T",
          "hgvs_p": null,
          "transcript": "ENST00000336273.8",
          "protein_id": "ENSP00000338235.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 582,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1749,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_178812.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000336273.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTDH",
          "gene_hgnc_id": 29608,
          "hgvs_c": "c.*851C>T",
          "hgvs_p": null,
          "transcript": "NM_001363137.1",
          "protein_id": "NP_001350066.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001363137.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTDH",
          "gene_hgnc_id": 29608,
          "hgvs_c": "c.*851C>T",
          "hgvs_p": null,
          "transcript": "ENST00000887774.1",
          "protein_id": "ENSP00000557833.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000887774.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTDH",
          "gene_hgnc_id": 29608,
          "hgvs_c": "c.*851C>T",
          "hgvs_p": null,
          "transcript": "ENST00000915586.1",
          "protein_id": "ENSP00000585645.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 579,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1740,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915586.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTDH",
          "gene_hgnc_id": 29608,
          "hgvs_c": "c.*851C>T",
          "hgvs_p": null,
          "transcript": "ENST00000915591.1",
          "protein_id": "ENSP00000585650.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 565,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1698,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915591.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTDH",
          "gene_hgnc_id": 29608,
          "hgvs_c": "c.*851C>T",
          "hgvs_p": null,
          "transcript": "NM_001363136.1",
          "protein_id": "NP_001350065.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 560,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1683,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001363136.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTDH",
          "gene_hgnc_id": 29608,
          "hgvs_c": "c.*851C>T",
          "hgvs_p": null,
          "transcript": "NM_001363138.1",
          "protein_id": "NP_001350067.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 549,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1650,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001363138.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTDH",
          "gene_hgnc_id": 29608,
          "hgvs_c": "c.*851C>T",
          "hgvs_p": null,
          "transcript": "ENST00000887773.1",
          "protein_id": "ENSP00000557832.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 548,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1647,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000887773.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTDH",
          "gene_hgnc_id": 29608,
          "hgvs_c": "c.*851C>T",
          "hgvs_p": null,
          "transcript": "ENST00000915589.1",
          "protein_id": "ENSP00000585648.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 546,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1641,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915589.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
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          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTDH",
          "gene_hgnc_id": 29608,
          "hgvs_c": "c.*851C>T",
          "hgvs_p": null,
          "transcript": "ENST00000915592.1",
          "protein_id": "ENSP00000585651.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 546,
          "cds_start": null,
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          "cds_length": 1641,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915592.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTDH",
          "gene_hgnc_id": 29608,
          "hgvs_c": "c.*851C>T",
          "hgvs_p": null,
          "transcript": "ENST00000915587.1",
          "protein_id": "ENSP00000585646.1",
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          "aa_length": 532,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
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          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "MTDH",
          "gene_hgnc_id": 29608,
          "hgvs_c": "c.*851C>T",
          "hgvs_p": null,
          "transcript": "ENST00000953192.1",
          "protein_id": "ENSP00000623251.1",
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          "aa_start": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTDH",
          "gene_hgnc_id": 29608,
          "hgvs_c": "c.*851C>T",
          "hgvs_p": null,
          "transcript": "NM_001363139.1",
          "protein_id": "NP_001350068.1",
          "transcript_support_level": null,
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          "aa_length": 527,
          "cds_start": null,
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        },
        {
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          ],
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          "gene_symbol": "MTDH",
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        {
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          ],
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "MTDH",
          "gene_hgnc_id": 29608,
          "hgvs_c": "c.*851C>T",
          "hgvs_p": null,
          "transcript": "ENST00000915588.1",
          "protein_id": "ENSP00000585647.1",
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          "biotype": "protein_coding",
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        {
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          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "MTDH",
          "gene_hgnc_id": 29608,
          "hgvs_c": "c.*851C>T",
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          "transcript": "ENST00000887775.1",
          "protein_id": "ENSP00000557834.1",
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "MTDH",
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        {
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          ],
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          "gene_symbol": "MTDH",
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        },
        {
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            "3_prime_UTR_variant"
          ],
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          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTDH",
          "gene_hgnc_id": 29608,
          "hgvs_c": "c.*851C>T",
          "hgvs_p": null,
          "transcript": "ENST00000953190.1",
          "protein_id": "ENSP00000623249.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 468,
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          "cds_length": 1407,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000953190.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
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          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
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      "acmg_classification": "Benign",
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          "score": -12,
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          "verdict": "Benign",
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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
}