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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: 10-103449656-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=103449656&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 103449656,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000260743.10",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALHM2",
          "gene_hgnc_id": 23493,
          "hgvs_c": "c.286G>T",
          "hgvs_p": "p.Ala96Ser",
          "transcript": "NM_015916.5",
          "protein_id": "NP_057000.2",
          "transcript_support_level": null,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 286,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": 862,
          "cdna_end": null,
          "cdna_length": 1914,
          "mane_select": "ENST00000260743.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALHM2",
          "gene_hgnc_id": 23493,
          "hgvs_c": "c.286G>T",
          "hgvs_p": "p.Ala96Ser",
          "transcript": "ENST00000260743.10",
          "protein_id": "ENSP00000260743.5",
          "transcript_support_level": 1,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 286,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": 862,
          "cdna_end": null,
          "cdna_length": 1914,
          "mane_select": "NM_015916.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALHM2",
          "gene_hgnc_id": 23493,
          "hgvs_c": "c.286G>T",
          "hgvs_p": "p.Ala96Ser",
          "transcript": "ENST00000369788.7",
          "protein_id": "ENSP00000358803.3",
          "transcript_support_level": 2,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 286,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": 791,
          "cdna_end": null,
          "cdna_length": 1843,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALHM2",
          "gene_hgnc_id": 23493,
          "hgvs_c": "c.286G>T",
          "hgvs_p": "p.Ala96Ser",
          "transcript": "XM_006717880.3",
          "protein_id": "XP_006717943.1",
          "transcript_support_level": null,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 286,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": 778,
          "cdna_end": null,
          "cdna_length": 1830,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALHM2",
          "gene_hgnc_id": 23493,
          "hgvs_c": "c.286G>T",
          "hgvs_p": "p.Ala96Ser",
          "transcript": "XM_006717883.3",
          "protein_id": "XP_006717946.1",
          "transcript_support_level": null,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 286,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": 659,
          "cdna_end": null,
          "cdna_length": 1711,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALHM2",
          "gene_hgnc_id": 23493,
          "hgvs_c": "c.286G>T",
          "hgvs_p": "p.Ala96Ser",
          "transcript": "XM_011539848.3",
          "protein_id": "XP_011538150.1",
          "transcript_support_level": null,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 286,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": 1460,
          "cdna_end": null,
          "cdna_length": 2512,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALHM2",
          "gene_hgnc_id": 23493,
          "hgvs_c": "c.286G>T",
          "hgvs_p": "p.Ala96Ser",
          "transcript": "XM_017016306.2",
          "protein_id": "XP_016871795.1",
          "transcript_support_level": null,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 286,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": 1336,
          "cdna_end": null,
          "cdna_length": 2388,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALHM2",
          "gene_hgnc_id": 23493,
          "hgvs_c": "c.286G>T",
          "hgvs_p": "p.Ala96Ser",
          "transcript": "XM_017016307.2",
          "protein_id": "XP_016871796.1",
          "transcript_support_level": null,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 286,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": 1233,
          "cdna_end": null,
          "cdna_length": 2285,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALHM2",
          "gene_hgnc_id": 23493,
          "hgvs_c": "c.286G>T",
          "hgvs_p": "p.Ala96Ser",
          "transcript": "XM_024448034.2",
          "protein_id": "XP_024303802.1",
          "transcript_support_level": null,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 286,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": 1563,
          "cdna_end": null,
          "cdna_length": 2615,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CALHM2",
          "gene_hgnc_id": 23493,
          "hgvs_c": "c.286G>T",
          "hgvs_p": "p.Ala96Ser",
          "transcript": "XM_047425265.1",
          "protein_id": "XP_047281221.1",
          "transcript_support_level": null,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 286,
          "cds_end": null,
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          "cdna_start": 1613,
          "cdna_end": null,
          "cdna_length": 2665,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "strand": false,
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          ],
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          "exon_count": 4,
          "intron_rank": null,
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          "gene_symbol": "CALHM2",
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          "hgvs_c": "c.286G>T",
          "hgvs_p": "p.Ala96Ser",
          "transcript": "XM_047425266.1",
          "protein_id": "XP_047281222.1",
          "transcript_support_level": null,
          "aa_start": 96,
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          "aa_length": 323,
          "cds_start": 286,
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          "cdna_start": 2314,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "CALHM2",
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          "hgvs_c": "c.286G>T",
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          "transcript": "XM_047425267.1",
          "protein_id": "XP_047281223.1",
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        {
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          ],
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          "gene_symbol": "CALHM2",
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          "hgvs_c": "c.286G>T",
          "hgvs_p": "p.Ala96Ser",
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          "protein_id": "XP_047281224.1",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "CALHM2",
          "gene_hgnc_id": 23493,
          "hgvs_c": "c.286G>T",
          "hgvs_p": "p.Ala96Ser",
          "transcript": "XM_047425269.1",
          "protein_id": "XP_047281225.1",
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        {
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          ],
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        {
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          "gene_symbol": "CALHM2",
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          "hgvs_c": "c.286G>T",
          "hgvs_p": "p.Ala96Ser",
          "transcript": "XM_047425271.1",
          "protein_id": "XP_047281227.1",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "CALHM2",
          "gene_hgnc_id": 23493,
          "hgvs_c": "c.286G>T",
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        {
          "aa_ref": "A",
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          ],
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          "gene_symbol": "CALHM2",
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          "hgvs_c": "c.286G>T",
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          "transcript": "XM_006717884.5",
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        {
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          ],
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          "gene_symbol": "CALHM2",
          "gene_hgnc_id": 23493,
          "hgvs_c": "c.286G>T",
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        },
        {
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          ],
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          "gene_symbol": "CALHM2",
          "gene_hgnc_id": 23493,
          "hgvs_c": "c.286G>T",
          "hgvs_p": "p.Ala96Ser",
          "transcript": "XM_017016309.3",
          "protein_id": "XP_016871798.1",
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          "cdna_start": 659,
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          "cdna_length": 1698,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
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          "exon_count": 4,
          "intron_rank": null,
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          "gene_symbol": "CALHM2",
          "gene_hgnc_id": 23493,
          "hgvs_c": "c.286G>T",
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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
}