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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: 7-100210528-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100210528&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 100210528,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_001282717.2",
      "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": 34,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "STAG3",
          "gene_hgnc_id": 11356,
          "hgvs_c": "c.3239-483G>A",
          "hgvs_p": null,
          "transcript": "NM_001282717.2",
          "protein_id": "NP_001269646.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1226,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3681,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000615138.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001282717.2"
        },
        {
          "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": 34,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "STAG3",
          "gene_hgnc_id": 11356,
          "hgvs_c": "c.3239-483G>A",
          "hgvs_p": null,
          "transcript": "ENST00000615138.5",
          "protein_id": "ENSP00000477973.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1226,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3681,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001282717.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000615138.5"
        },
        {
          "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": 34,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "STAG3",
          "gene_hgnc_id": 11356,
          "hgvs_c": "c.3239-483G>A",
          "hgvs_p": null,
          "transcript": "ENST00000317296.9",
          "protein_id": "ENSP00000319318.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1225,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3678,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000317296.9"
        },
        {
          "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": 34,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "STAG3",
          "gene_hgnc_id": 11356,
          "hgvs_c": "c.3239-483G>A",
          "hgvs_p": null,
          "transcript": "ENST00000426455.5",
          "protein_id": "ENSP00000400359.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1225,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3678,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000426455.5"
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "CASTOR3P",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1575+866C>T",
          "hgvs_p": null,
          "transcript": "ENST00000328453.9",
          "protein_id": null,
          "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": "pseudogene",
          "feature": "ENST00000328453.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "STAG3",
          "gene_hgnc_id": 11356,
          "hgvs_c": "n.2771-483G>A",
          "hgvs_p": null,
          "transcript": "ENST00000496157.5",
          "protein_id": null,
          "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": "retained_intron",
          "feature": "ENST00000496157.5"
        },
        {
          "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": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CASTOR3P",
          "gene_hgnc_id": null,
          "hgvs_c": "n.890-7925C>T",
          "hgvs_p": null,
          "transcript": "ENST00000543273.5",
          "protein_id": null,
          "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": "pseudogene",
          "feature": "ENST00000543273.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000292277",
          "gene_hgnc_id": null,
          "hgvs_c": "n.29-483G>A",
          "hgvs_p": null,
          "transcript": "ENST00000710637.1",
          "protein_id": "ENSP00000518392.1",
          "transcript_support_level": null,
          "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": "ENST00000710637.1"
        },
        {
          "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": 34,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "STAG3",
          "gene_hgnc_id": 11356,
          "hgvs_c": "c.3239-483G>A",
          "hgvs_p": null,
          "transcript": "NM_001375438.1",
          "protein_id": "NP_001362367.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1226,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3681,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375438.1"
        },
        {
          "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": 34,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "STAG3",
          "gene_hgnc_id": 11356,
          "hgvs_c": "c.3239-483G>A",
          "hgvs_p": null,
          "transcript": "ENST00000938222.1",
          "protein_id": "ENSP00000608281.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1226,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3681,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938222.1"
        },
        {
          "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": 34,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "STAG3",
          "gene_hgnc_id": 11356,
          "hgvs_c": "c.3239-483G>A",
          "hgvs_p": null,
          "transcript": "ENST00000938225.1",
          "protein_id": "ENSP00000608284.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1226,
          "cds_start": null,
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          "cds_length": 3681,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938225.1"
        },
        {
          "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": 34,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "STAG3",
          "gene_hgnc_id": 11356,
          "hgvs_c": "c.3239-483G>A",
          "hgvs_p": null,
          "transcript": "NM_001282716.1",
          "protein_id": "NP_001269645.1",
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          "aa_length": 1225,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001282716.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
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          "strand": true,
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          ],
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          "gene_symbol": "STAG3",
          "gene_hgnc_id": 11356,
          "hgvs_c": "c.3239-483G>A",
          "hgvs_p": null,
          "transcript": "NM_012447.4",
          "protein_id": "NP_036579.2",
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          "cds_start": null,
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        {
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          "canonical": false,
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          "strand": true,
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          "intron_rank": 29,
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          "gene_symbol": "STAG3",
          "gene_hgnc_id": 11356,
          "hgvs_c": "c.3239-483G>A",
          "hgvs_p": null,
          "transcript": "ENST00000938223.1",
          "protein_id": "ENSP00000608282.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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        },
        {
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          "gene_symbol": "STAG3",
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          "transcript": "ENST00000938224.1",
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        {
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          "strand": true,
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          "exon_count": 32,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "STAG3",
          "gene_hgnc_id": 11356,
          "hgvs_c": "c.3065-483G>A",
          "hgvs_p": null,
          "transcript": "NM_001282718.2",
          "protein_id": "NP_001269647.1",
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          "cds_start": null,
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        {
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          "gene_symbol": "STAG3",
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          "hgvs_c": "c.3065-483G>A",
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          "transcript": "ENST00000394018.6",
          "protein_id": "ENSP00000377586.2",
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          "aa_start": null,
          "aa_end": null,
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          "intron_rank": 27,
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        {
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          "exon_count": 34,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "STAG3",
          "gene_hgnc_id": 11356,
          "hgvs_c": "c.3239-483G>A",
          "hgvs_p": null,
          "transcript": "XM_017011685.2",
          "protein_id": "XP_016867174.2",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "effects": [
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          "verdict": "Benign",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  "message": null
}