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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: 3-124684428-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=124684428&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 124684428,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000682506.1",
"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": 60,
"intron_rank": 51,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.7377+4911G>T",
"hgvs_p": null,
"transcript": "NM_001388419.1",
"protein_id": "NP_001375348.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2986,
"cds_start": -4,
"cds_end": null,
"cds_length": 8961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16188,
"mane_select": "ENST00000682506.1",
"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": 60,
"intron_rank": 51,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.7377+4911G>T",
"hgvs_p": null,
"transcript": "ENST00000682506.1",
"protein_id": "ENSP00000508359.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2986,
"cds_start": -4,
"cds_end": null,
"cds_length": 8961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16188,
"mane_select": "NM_001388419.1",
"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": 27,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2286+4911G>T",
"hgvs_p": null,
"transcript": "ENST00000291478.9",
"protein_id": "ENSP00000291478.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1289,
"cds_start": -4,
"cds_end": null,
"cds_length": 3870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10888,
"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": 60,
"intron_rank": 51,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.7377+4911G>T",
"hgvs_p": null,
"transcript": "NM_001024660.5",
"protein_id": "NP_001019831.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2986,
"cds_start": -4,
"cds_end": null,
"cds_length": 8961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15947,
"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": 60,
"intron_rank": 51,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.7377+4911G>T",
"hgvs_p": null,
"transcript": "ENST00000360013.7",
"protein_id": "ENSP00000353109.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2986,
"cds_start": -4,
"cds_end": null,
"cds_length": 8961,
"cdna_start": null,
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"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,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": 50,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.7281+4911G>T",
"hgvs_p": null,
"transcript": "ENST00000354186.8",
"protein_id": "ENSP00000346122.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2286+4911G>T",
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"transcript": "NM_007064.5",
"protein_id": "NP_008995.2",
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2283+4911G>T",
"hgvs_p": null,
"transcript": "NM_001322993.2",
"protein_id": "NP_001309922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": -4,
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"cds_length": 3867,
"cdna_start": null,
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"cdna_length": 10886,
"mane_select": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 19,
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"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "n.*1822+4911G>T",
"hgvs_p": null,
"transcript": "ENST00000682290.1",
"protein_id": "ENSP00000507381.1",
"transcript_support_level": null,
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},
{
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],
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],
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],
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}