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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: 15-90904290-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90904290&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAN2A2",
"hgnc_id": 6825,
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001320977.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1306,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.02,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6094937920570374,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6394,
"cdna_start": 232,
"cds_end": null,
"cds_length": 3453,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_006122.4",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000559717.6",
"protein_coding": true,
"protein_id": "NP_006113.2",
"strand": true,
"transcript": "NM_006122.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6394,
"cdna_start": 232,
"cds_end": null,
"cds_length": 3453,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000559717.6",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006122.4",
"protein_coding": true,
"protein_id": "ENSP00000452948.1",
"strand": true,
"transcript": "ENST00000559717.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6268,
"cdna_start": 101,
"cds_end": null,
"cds_length": 3453,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000360468.7",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353655.3",
"strand": true,
"transcript": "ENST00000360468.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4918,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000558161.5",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "n.83G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000452631.1",
"strand": true,
"transcript": "ENST00000558161.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2469,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000560192.5",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "n.445G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000560192.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6518,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000560451.6",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "n.83G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000453999.1",
"strand": true,
"transcript": "ENST00000560451.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6685,
"cdna_start": 448,
"cds_end": null,
"cds_length": 3528,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001320977.2",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307906.1",
"strand": true,
"transcript": "NM_001320977.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1156,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5092,
"cdna_start": 288,
"cds_end": null,
"cds_length": 3471,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000855659.1",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525718.1",
"strand": true,
"transcript": "ENST00000855659.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1139,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5458,
"cdna_start": 598,
"cds_end": null,
"cds_length": 3420,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000855658.1",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525717.1",
"strand": true,
"transcript": "ENST00000855658.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 119,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 529,
"cdna_start": 251,
"cds_end": null,
"cds_length": 361,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000559999.5",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453078.1",
"strand": true,
"transcript": "ENST00000559999.5",
"transcript_support_level": 4
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 75,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 537,
"cdna_start": 392,
"cds_end": null,
"cds_length": 228,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000559965.5",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453956.1",
"strand": true,
"transcript": "ENST00000559965.5",
"transcript_support_level": 4
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 71,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1049,
"cdna_start": 914,
"cds_end": null,
"cds_length": 218,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000558290.5",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453740.1",
"strand": true,
"transcript": "ENST00000558290.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 49,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 624,
"cdna_start": 555,
"cds_end": null,
"cds_length": 152,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000558853.5",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452691.1",
"strand": true,
"transcript": "ENST00000558853.5",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6489,
"cdna_start": 246,
"cds_end": null,
"cds_length": 3528,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_005254910.4",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005254967.1",
"strand": true,
"transcript": "XM_005254910.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6528,
"cdna_start": 285,
"cds_end": null,
"cds_length": 3528,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017022184.2",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877673.1",
"strand": true,
"transcript": "XM_017022184.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6857,
"cdna_start": 614,
"cds_end": null,
"cds_length": 3528,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_024449920.2",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305688.1",
"strand": true,
"transcript": "XM_024449920.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6655,
"cdna_start": 412,
"cds_end": null,
"cds_length": 3528,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_024449921.2",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305689.1",
"strand": true,
"transcript": "XM_024449921.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6900,
"cdna_start": 657,
"cds_end": null,
"cds_length": 3528,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047432507.1",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288463.1",
"strand": true,
"transcript": "XM_047432507.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6414,
"cdna_start": 246,
"cds_end": null,
"cds_length": 3453,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017022185.2",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877674.1",
"strand": true,
"transcript": "XM_017022185.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6782,
"cdna_start": 614,
"cds_end": null,
"cds_length": 3453,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_024449922.2",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305690.1",
"strand": true,
"transcript": "XM_024449922.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6616,
"cdna_start": 448,
"cds_end": null,
"cds_length": 3453,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_024449923.2",
"gene_hgnc_id": 6825,
"gene_symbol": "MAN2A2",
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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