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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: 10-14934704-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=14934704&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 14934704,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant,splice_region_variant",
      "transcript": "ENST00000378278.7",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "c.536G>T",
          "hgvs_p": "p.Arg179Leu",
          "transcript": "NM_001033855.3",
          "protein_id": "NP_001029027.1",
          "transcript_support_level": null,
          "aa_start": 179,
          "aa_end": null,
          "aa_length": 692,
          "cds_start": 536,
          "cds_end": null,
          "cds_length": 2079,
          "cdna_start": 622,
          "cdna_end": null,
          "cdna_length": 5960,
          "mane_select": "ENST00000378278.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "c.536G>T",
          "hgvs_p": "p.Arg179Leu",
          "transcript": "ENST00000378278.7",
          "protein_id": "ENSP00000367527.2",
          "transcript_support_level": 1,
          "aa_start": 179,
          "aa_end": null,
          "aa_length": 692,
          "cds_start": 536,
          "cds_end": null,
          "cds_length": 2079,
          "cdna_start": 622,
          "cdna_end": null,
          "cdna_length": 5960,
          "mane_select": "NM_001033855.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "c.536G>T",
          "hgvs_p": "p.Arg179Leu",
          "transcript": "ENST00000378289.8",
          "protein_id": "ENSP00000367538.4",
          "transcript_support_level": 1,
          "aa_start": 179,
          "aa_end": null,
          "aa_length": 434,
          "cds_start": 536,
          "cds_end": null,
          "cds_length": 1305,
          "cdna_start": 958,
          "cdna_end": null,
          "cdna_length": 3532,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*194G>T",
          "hgvs_p": null,
          "transcript": "ENST00000357717.6",
          "protein_id": "ENSP00000350349.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2228,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*153G>T",
          "hgvs_p": null,
          "transcript": "ENST00000378246.6",
          "protein_id": "ENSP00000367492.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2637,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*314G>T",
          "hgvs_p": null,
          "transcript": "ENST00000378249.5",
          "protein_id": "ENSP00000367496.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2246,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*496G>T",
          "hgvs_p": null,
          "transcript": "ENST00000378254.5",
          "protein_id": "ENSP00000367502.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2485,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*818G>T",
          "hgvs_p": null,
          "transcript": "ENST00000378255.5",
          "protein_id": "ENSP00000367503.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2807,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*456G>T",
          "hgvs_p": null,
          "transcript": "ENST00000378258.5",
          "protein_id": "ENSP00000367506.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2463,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*778G>T",
          "hgvs_p": null,
          "transcript": "ENST00000396817.6",
          "protein_id": "ENSP00000380030.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 2761,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*194G>T",
          "hgvs_p": null,
          "transcript": "ENST00000357717.6",
          "protein_id": "ENSP00000350349.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2228,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
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          "hgvs_c": "n.*153G>T",
          "hgvs_p": null,
          "transcript": "ENST00000378246.6",
          "protein_id": "ENSP00000367492.3",
          "transcript_support_level": 1,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": null,
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          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
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          "hgvs_c": "n.*314G>T",
          "hgvs_p": null,
          "transcript": "ENST00000378249.5",
          "protein_id": "ENSP00000367496.2",
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          "aa_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*496G>T",
          "hgvs_p": null,
          "transcript": "ENST00000378254.5",
          "protein_id": "ENSP00000367502.2",
          "transcript_support_level": 1,
          "aa_start": null,
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          "mane_select": null,
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "DCLRE1C",
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          "hgvs_c": "n.*818G>T",
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          "transcript": "ENST00000378255.5",
          "protein_id": "ENSP00000367503.2",
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          "cdna_length": 2807,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*456G>T",
          "hgvs_p": null,
          "transcript": "ENST00000378258.5",
          "protein_id": "ENSP00000367506.2",
          "transcript_support_level": 1,
          "aa_start": null,
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          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "n.*778G>T",
          "hgvs_p": null,
          "transcript": "ENST00000396817.6",
          "protein_id": "ENSP00000380030.3",
          "transcript_support_level": 1,
          "aa_start": null,
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          "mane_select": null,
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        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "DCLRE1C",
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          "hgvs_c": "c.536G>T",
          "hgvs_p": "p.Arg179Leu",
          "transcript": "ENST00000697070.1",
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          "cdna_start": 602,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
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          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "c.536G>T",
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          "transcript": "ENST00000697084.1",
          "protein_id": "ENSP00000513098.1",
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCLRE1C",
          "gene_hgnc_id": 17642,
          "hgvs_c": "c.536G>T",
          "hgvs_p": "p.Arg179Leu",
          "transcript": "ENST00000697075.1",
          "protein_id": "ENSP00000513090.1",
          "transcript_support_level": null,
          "aa_start": 179,
          "aa_end": null,
          "aa_length": 692,
          "cds_start": 536,
          "cds_end": null,
          "cds_length": 2079,
          "cdna_start": 614,
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          "cdna_length": 2370,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "benign_score": 0,
          "pathogenic_score": 3,
          "criteria": [
            "PM2",
            "PP3"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000378278.7",
          "gene_symbol": "DCLRE1C",
          "hgnc_id": 17642,
          "effects": [
            "missense_variant",
            "splice_region_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.536G>T",
          "hgvs_p": "p.Arg179Leu"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}