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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: 3-138211503-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=138211503&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 138211503,
      "ref": "T",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000469044.6",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ARMC8",
          "gene_hgnc_id": 24999,
          "hgvs_c": "c.122+1610T>G",
          "hgvs_p": null,
          "transcript": "NM_001363941.2",
          "protein_id": "NP_001350870.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4757,
          "mane_select": "ENST00000469044.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ARMC8",
          "gene_hgnc_id": 24999,
          "hgvs_c": "c.122+1610T>G",
          "hgvs_p": null,
          "transcript": "ENST00000469044.6",
          "protein_id": "ENSP00000419413.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4757,
          "mane_select": "NM_001363941.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ARMC8",
          "gene_hgnc_id": 24999,
          "hgvs_c": "c.80+1610T>G",
          "hgvs_p": null,
          "transcript": "ENST00000481646.5",
          "protein_id": "ENSP00000420333.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 659,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1980,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3043,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ARMC8",
          "gene_hgnc_id": 24999,
          "hgvs_c": "c.80+1610T>G",
          "hgvs_p": null,
          "transcript": "ENST00000358441.6",
          "protein_id": "ENSP00000351221.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 385,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1158,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3181,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ARMC8",
          "gene_hgnc_id": 24999,
          "hgvs_c": "c.80+1610T>G",
          "hgvs_p": null,
          "transcript": "NM_015396.6",
          "protein_id": "NP_056211.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 659,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1980,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4603,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ARMC8",
          "gene_hgnc_id": 24999,
          "hgvs_c": "c.122+1610T>G",
          "hgvs_p": null,
          "transcript": "NM_001267041.2",
          "protein_id": "NP_001253970.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 642,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1929,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4733,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ARMC8",
          "gene_hgnc_id": 24999,
          "hgvs_c": "c.122+1610T>G",
          "hgvs_p": null,
          "transcript": "ENST00000538260.5",
          "protein_id": "ENSP00000441592.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 642,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1929,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4728,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ARMC8",
          "gene_hgnc_id": 24999,
          "hgvs_c": "c.-4-10423T>G",
          "hgvs_p": null,
          "transcript": "NM_001363942.1",
          "protein_id": "NP_001350871.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 631,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1896,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4826,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ARMC8",
          "gene_hgnc_id": 24999,
          "hgvs_c": "c.-4-10423T>G",
          "hgvs_p": null,
          "transcript": "ENST00000491704.5",
          "protein_id": "ENSP00000417304.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 631,
          "cds_start": -4,
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          "cds_length": 1896,
          "cdna_start": null,
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          "cdna_length": 2777,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ARMC8",
          "gene_hgnc_id": 24999,
          "hgvs_c": "c.122+1610T>G",
          "hgvs_p": null,
          "transcript": "NM_001267042.3",
          "protein_id": "NP_001253971.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 606,
          "cds_start": -4,
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          "cds_length": 1821,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
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          "feature": null
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        {
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          "canonical": false,
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          "exon_count": 21,
          "intron_rank": 2,
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          "gene_symbol": "ARMC8",
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          "hgvs_c": "c.122+1610T>G",
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          "transcript": "ENST00000461822.5",
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          "aa_start": null,
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          "aa_length": 606,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
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          "exon_count": 20,
          "intron_rank": 1,
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          "gene_symbol": "ARMC8",
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          "hgvs_c": "c.-4-10423T>G",
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          "gene_symbol": "ARMC8",
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          "hgvs_c": "c.122+1610T>G",
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        {
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        {
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          "intron_rank_end": null,
          "gene_symbol": "ARMC8",
          "gene_hgnc_id": 24999,
          "hgvs_c": "c.122+1610T>G",
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          "transcript": "ENST00000461600.5",
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      "clinvar_disease": "",
      "clinvar_classification": "",
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      "custom_annotations": null
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  "message": null
}