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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: 2-43410859-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=43410859&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 43410859,
      "ref": "A",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_022065.5",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "THADA",
          "gene_hgnc_id": 19217,
          "hgvs_c": "c.4059-12720T>G",
          "hgvs_p": null,
          "transcript": "NM_022065.5",
          "protein_id": "NP_071348.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1953,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5862,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000405975.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_022065.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "THADA",
          "gene_hgnc_id": 19217,
          "hgvs_c": "c.4059-12720T>G",
          "hgvs_p": null,
          "transcript": "ENST00000405975.7",
          "protein_id": "ENSP00000386088.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1953,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5862,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_022065.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000405975.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "THADA",
          "gene_hgnc_id": 19217,
          "hgvs_c": "c.4059-12720T>G",
          "hgvs_p": null,
          "transcript": "ENST00000405006.8",
          "protein_id": "ENSP00000385995.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1953,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5862,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000405006.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "THADA",
          "gene_hgnc_id": 19217,
          "hgvs_c": "n.*3154-12720T>G",
          "hgvs_p": null,
          "transcript": "ENST00000408045.7",
          "protein_id": "ENSP00000384172.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000408045.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "THADA",
          "gene_hgnc_id": 19217,
          "hgvs_c": "c.4059-12720T>G",
          "hgvs_p": null,
          "transcript": "NM_001083953.2",
          "protein_id": "NP_001077422.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1953,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5862,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001083953.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "THADA",
          "gene_hgnc_id": 19217,
          "hgvs_c": "c.4059-12720T>G",
          "hgvs_p": null,
          "transcript": "NM_001345925.2",
          "protein_id": "NP_001332854.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1953,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5862,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001345925.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "THADA",
          "gene_hgnc_id": 19217,
          "hgvs_c": "c.4059-12720T>G",
          "hgvs_p": null,
          "transcript": "ENST00000855634.1",
          "protein_id": "ENSP00000525693.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1953,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5862,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000855634.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "THADA",
          "gene_hgnc_id": 19217,
          "hgvs_c": "c.4059-12720T>G",
          "hgvs_p": null,
          "transcript": "ENST00000915746.1",
          "protein_id": "ENSP00000585805.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1953,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5862,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915746.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "THADA",
          "gene_hgnc_id": 19217,
          "hgvs_c": "c.4059-12720T>G",
          "hgvs_p": null,
          "transcript": "ENST00000944893.1",
          "protein_id": "ENSP00000614952.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1953,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5862,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000944893.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "THADA",
          "gene_hgnc_id": 19217,
          "hgvs_c": "c.4056-12720T>G",
          "hgvs_p": null,
          "transcript": "NM_001345923.2",
          "protein_id": "NP_001332852.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1952,
          "cds_start": null,
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          "cds_length": 5859,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "feature": "NM_001345923.2"
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        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "intron_rank": 28,
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          "gene_symbol": "THADA",
          "gene_hgnc_id": 19217,
          "hgvs_c": "c.4056-12720T>G",
          "hgvs_p": null,
          "transcript": "ENST00000855632.1",
          "protein_id": "ENSP00000525691.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1952,
          "cds_start": null,
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          "cds_length": 5859,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "exon_rank": null,
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          "intron_rank": 29,
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          "gene_symbol": "THADA",
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          "hgvs_c": "c.4056-12720T>G",
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          "cds_start": null,
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        {
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        {
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          "gene_symbol": "THADA",
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          "gene_symbol": "THADA",
          "gene_hgnc_id": 19217,
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          "transcript": "ENST00000855639.1",
          "protein_id": "ENSP00000525698.1",
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        {
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      "clinvar_classification": "",
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      "custom_annotations": null
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}