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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: 18-46518215-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=46518215&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "18",
      "pos": 46518215,
      "ref": "G",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "ENST00000642948.1",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 34,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.5313C>G",
          "hgvs_p": "p.Gly1771Gly",
          "transcript": "NM_001384474.1",
          "protein_id": "NP_001371403.1",
          "transcript_support_level": null,
          "aa_start": 1771,
          "aa_end": null,
          "aa_length": 2273,
          "cds_start": 5313,
          "cds_end": null,
          "cds_length": 6822,
          "cdna_start": 5500,
          "cdna_end": null,
          "cdna_length": 7208,
          "mane_select": "ENST00000642948.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 34,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.5313C>G",
          "hgvs_p": "p.Gly1771Gly",
          "transcript": "ENST00000642948.1",
          "protein_id": "ENSP00000496347.1",
          "transcript_support_level": null,
          "aa_start": 1771,
          "aa_end": null,
          "aa_length": 2273,
          "cds_start": 5313,
          "cds_end": null,
          "cds_length": 6822,
          "cdna_start": 5500,
          "cdna_end": null,
          "cdna_length": 7208,
          "mane_select": "NM_001384474.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.1980C>G",
          "hgvs_p": "p.Gly660Gly",
          "transcript": "ENST00000300591.11",
          "protein_id": "ENSP00000300591.6",
          "transcript_support_level": 1,
          "aa_start": 660,
          "aa_end": null,
          "aa_length": 1114,
          "cds_start": 1980,
          "cds_end": null,
          "cds_length": 3345,
          "cdna_start": 2394,
          "cdna_end": null,
          "cdna_length": 3968,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.1692C>G",
          "hgvs_p": "p.Gly564Gly",
          "transcript": "ENST00000579038.6",
          "protein_id": "ENSP00000463285.1",
          "transcript_support_level": 1,
          "aa_start": 564,
          "aa_end": null,
          "aa_length": 1011,
          "cds_start": 1692,
          "cds_end": null,
          "cds_length": 3036,
          "cdna_start": 2043,
          "cdna_end": null,
          "cdna_length": 3633,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.30C>G",
          "hgvs_p": "p.Gly10Gly",
          "transcript": "ENST00000398686.8",
          "protein_id": "ENSP00000381676.4",
          "transcript_support_level": 1,
          "aa_start": 10,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": 30,
          "cds_end": null,
          "cds_length": 1539,
          "cdna_start": 250,
          "cdna_end": null,
          "cdna_length": 1958,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.5127C>G",
          "hgvs_p": "p.Gly1709Gly",
          "transcript": "NM_144612.7",
          "protein_id": "NP_653213.6",
          "transcript_support_level": null,
          "aa_start": 1709,
          "aa_end": null,
          "aa_length": 2211,
          "cds_start": 5127,
          "cds_end": null,
          "cds_length": 6636,
          "cdna_start": 5314,
          "cdna_end": null,
          "cdna_length": 7022,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.5127C>G",
          "hgvs_p": "p.Gly1709Gly",
          "transcript": "ENST00000536736.5",
          "protein_id": "ENSP00000444586.1",
          "transcript_support_level": 5,
          "aa_start": 1709,
          "aa_end": null,
          "aa_length": 2211,
          "cds_start": 5127,
          "cds_end": null,
          "cds_length": 6636,
          "cdna_start": 5127,
          "cdna_end": null,
          "cdna_length": 6848,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.4695C>G",
          "hgvs_p": "p.Gly1565Gly",
          "transcript": "ENST00000441551.6",
          "protein_id": "ENSP00000387621.2",
          "transcript_support_level": 5,
          "aa_start": 1565,
          "aa_end": null,
          "aa_length": 2067,
          "cds_start": 4695,
          "cds_end": null,
          "cds_length": 6204,
          "cdna_start": 4695,
          "cdna_end": null,
          "cdna_length": 6226,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.1980C>G",
          "hgvs_p": "p.Gly660Gly",
          "transcript": "NM_001145472.3",
          "protein_id": "NP_001138944.1",
          "transcript_support_level": null,
          "aa_start": 660,
          "aa_end": null,
          "aa_length": 1114,
          "cds_start": 1980,
          "cds_end": null,
          "cds_length": 3345,
          "cdna_start": 2394,
          "cdna_end": null,
          "cdna_length": 3981,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.1794C>G",
          "hgvs_p": "p.Gly598Gly",
          "transcript": "ENST00000582408.6",
          "protein_id": "ENSP00000461964.1",
          "transcript_support_level": 2,
          "aa_start": 598,
          "aa_end": null,
          "aa_length": 1100,
          "cds_start": 1794,
          "cds_end": null,
          "cds_length": 3303,
          "cdna_start": 2034,
          "cdna_end": null,
          "cdna_length": 3761,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.1692C>G",
          "hgvs_p": "p.Gly564Gly",
          "transcript": "NM_001308013.2",
          "protein_id": "NP_001294942.1",
          "transcript_support_level": null,
          "aa_start": 564,
          "aa_end": null,
          "aa_length": 1011,
          "cds_start": 1692,
          "cds_end": null,
          "cds_length": 3036,
          "cdna_start": 2043,
          "cdna_end": null,
          "cdna_length": 3644,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.30C>G",
          "hgvs_p": "p.Gly10Gly",
          "transcript": "NM_001145473.3",
          "protein_id": "NP_001138945.1",
          "transcript_support_level": null,
          "aa_start": 10,
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          "aa_length": 512,
          "cds_start": 30,
          "cds_end": null,
          "cds_length": 1539,
          "cdna_start": 250,
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          "cdna_length": 1958,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.30C>G",
          "hgvs_p": "p.Gly10Gly",
          "transcript": "NM_001173129.2",
          "protein_id": "NP_001166600.1",
          "transcript_support_level": null,
          "aa_start": 10,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": 30,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": 250,
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          "cdna_length": 1851,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.30C>G",
          "hgvs_p": "p.Gly10Gly",
          "transcript": "ENST00000398705.7",
          "protein_id": "ENSP00000381692.2",
          "transcript_support_level": 2,
          "aa_start": 10,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": 30,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": 241,
          "cdna_end": null,
          "cdna_length": 1831,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 2,
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          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.30C>G",
          "hgvs_p": "p.Gly10Gly",
          "transcript": "ENST00000414184.1",
          "protein_id": "ENSP00000392440.1",
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          "cds_start": 30,
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          "cdna_start": 164,
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          "cdna_length": 675,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.30C>G",
          "hgvs_p": "p.Gly10Gly",
          "transcript": "ENST00000452425.2",
          "protein_id": "ENSP00000414278.2",
          "transcript_support_level": 5,
          "aa_start": 10,
          "aa_end": null,
          "aa_length": 39,
          "cds_start": 30,
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          "cds_length": 120,
          "cdna_start": 470,
          "cdna_end": null,
          "cdna_length": 560,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.4269C>G",
          "hgvs_p": "p.Gly1423Gly",
          "transcript": "XM_047437289.1",
          "protein_id": "XP_047293245.1",
          "transcript_support_level": null,
          "aa_start": 1423,
          "aa_end": null,
          "aa_length": 1925,
          "cds_start": 4269,
          "cds_end": null,
          "cds_length": 5778,
          "cdna_start": 4368,
          "cdna_end": null,
          "cdna_length": 6076,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.4479C>G",
          "hgvs_p": "p.Gly1493Gly",
          "transcript": "XM_047437290.1",
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          "feature": null
        },
        {
          "aa_ref": "G",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
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          "exon_count": 33,
          "intron_rank": null,
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          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.4479C>G",
          "hgvs_p": "p.Gly1493Gly",
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          "protein_id": "XP_047293247.1",
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          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOXHD1",
          "gene_hgnc_id": 26521,
          "hgvs_c": "c.4479C>G",
          "hgvs_p": "p.Gly1493Gly",
          "transcript": "XM_047437292.1",
          "protein_id": "XP_047293248.1",
          "transcript_support_level": null,
          "aa_start": 1493,
          "aa_end": null,
          "aa_length": 1741,
          "cds_start": 4479,
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          "cds_length": 5226,
          "cdna_start": 4626,
          "cdna_end": null,
          "cdna_length": 5450,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
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      "acmg_classification": "Likely_benign",
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            "BP7"
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          "verdict": "Likely_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
    }
  ],
  "message": null
}