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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: 12-47235106-AAT-TCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=47235106&ref=AAT&alt=TCC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PCED1B",
"hgnc_id": 28255,
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_138371.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_138371.3",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000546455.6",
"protein_coding": true,
"protein_id": "NP_612380.1",
"strand": true,
"transcript": "NM_138371.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000546455.6",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138371.3",
"protein_coding": true,
"protein_id": "ENSP00000446688.1",
"strand": true,
"transcript": "ENST00000546455.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1842,
"cdna_start": 288,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001281429.2",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268358.1",
"strand": true,
"transcript": "NM_001281429.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 306,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000432328.2",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396040.1",
"strand": true,
"transcript": "ENST00000432328.2",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3726,
"cdna_start": 2168,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872013.1",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542072.1",
"strand": true,
"transcript": "ENST00000872013.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2445,
"cdna_start": 890,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872014.1",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542073.1",
"strand": true,
"transcript": "ENST00000872014.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 716,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872015.1",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542074.1",
"strand": true,
"transcript": "ENST00000872015.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1916,
"cdna_start": 364,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872016.1",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542075.1",
"strand": true,
"transcript": "ENST00000872016.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2108,
"cdna_start": 552,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872017.1",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542076.1",
"strand": true,
"transcript": "ENST00000872017.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 597,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872018.1",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542077.1",
"strand": true,
"transcript": "ENST00000872018.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872019.1",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542078.1",
"strand": true,
"transcript": "ENST00000872019.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2148,
"cdna_start": 594,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872020.1",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542079.1",
"strand": true,
"transcript": "ENST00000872020.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2373,
"cdna_start": 819,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872021.1",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542080.1",
"strand": true,
"transcript": "ENST00000872021.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872022.1",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542081.1",
"strand": true,
"transcript": "ENST00000872022.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2473,
"cdna_start": 916,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872023.1",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542082.1",
"strand": true,
"transcript": "ENST00000872023.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": 1605,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872024.1",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542083.1",
"strand": true,
"transcript": "ENST00000872024.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2013,
"cdna_start": 459,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872025.1",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542084.1",
"strand": true,
"transcript": "ENST00000872025.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2759,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872026.1",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542085.1",
"strand": true,
"transcript": "ENST00000872026.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872027.1",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542086.1",
"strand": true,
"transcript": "ENST00000872027.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": 326,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872028.1",
"gene_hgnc_id": 28255,
"gene_symbol": "PCED1B",
"hgvs_c": "c.43_45delAATinsTCC",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542087.1",
"strand": true,
"transcript": "ENST00000872028.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1897,
"cdna_start": 345,
"cds_end": null,
"cds_length": 1299,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872029.1",
"gene_hgnc_id": 28255,
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}