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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: 11-46408704-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=46408704&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "AMBRA1",
"hgnc_id": 25990,
"hgvs_c": "c.3221C>A",
"hgvs_p": "p.Thr1074Asn",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001267782.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1227,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.24850007891654968,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "T",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5249,
"cdna_start": 3528,
"cds_end": null,
"cds_length": 3897,
"cds_start": 3212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001387011.1",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.3212C>A",
"hgvs_p": "p.Thr1071Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683756.1",
"protein_coding": true,
"protein_id": "NP_001373940.1",
"strand": false,
"transcript": "NM_001387011.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "T",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5249,
"cdna_start": 3528,
"cds_end": null,
"cds_length": 3897,
"cds_start": 3212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000683756.1",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.3212C>A",
"hgvs_p": "p.Thr1071Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001387011.1",
"protein_coding": true,
"protein_id": "ENSP00000508322.1",
"strand": false,
"transcript": "ENST00000683756.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1238,
"aa_ref": "T",
"aa_start": 1011,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5067,
"cdna_start": 3346,
"cds_end": null,
"cds_length": 3717,
"cds_start": 3032,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000534300.5",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.3032C>A",
"hgvs_p": "p.Thr1011Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431926.1",
"strand": false,
"transcript": "ENST00000534300.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "T",
"aa_start": 981,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5023,
"cdna_start": 3302,
"cds_end": null,
"cds_length": 3627,
"cds_start": 2942,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000314845.7",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.2942C>A",
"hgvs_p": "p.Thr981Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000318313.3",
"strand": false,
"transcript": "ENST00000314845.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1179,
"aa_ref": "T",
"aa_start": 952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4817,
"cdna_start": 3096,
"cds_end": null,
"cds_length": 3540,
"cds_start": 2855,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000533727.5",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.2855C>A",
"hgvs_p": "p.Thr952Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433372.1",
"strand": false,
"transcript": "ENST00000533727.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1301,
"aa_ref": "T",
"aa_start": 1074,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5258,
"cdna_start": 3537,
"cds_end": null,
"cds_length": 3906,
"cds_start": 3221,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001267782.2",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.3221C>A",
"hgvs_p": "p.Thr1074Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001254711.1",
"strand": false,
"transcript": "NM_001267782.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "T",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5293,
"cdna_start": 3572,
"cds_end": null,
"cds_length": 3897,
"cds_start": 3212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001367468.1",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.3212C>A",
"hgvs_p": "p.Thr1071Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354397.1",
"strand": false,
"transcript": "NM_001367468.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "T",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5351,
"cdna_start": 3631,
"cds_end": null,
"cds_length": 3897,
"cds_start": 3212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000458649.6",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.3212C>A",
"hgvs_p": "p.Thr1071Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415327.2",
"strand": false,
"transcript": "ENST00000458649.6",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "T",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5180,
"cdna_start": 3459,
"cds_end": null,
"cds_length": 3897,
"cds_start": 3212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000935632.1",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.3212C>A",
"hgvs_p": "p.Thr1071Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605691.1",
"strand": false,
"transcript": "ENST00000935632.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1269,
"aa_ref": "T",
"aa_start": 1042,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4102,
"cdna_start": 3417,
"cds_end": null,
"cds_length": 3810,
"cds_start": 3125,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000528950.1",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.3125C>A",
"hgvs_p": "p.Thr1042Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433945.1",
"strand": false,
"transcript": "ENST00000528950.1",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1269,
"aa_ref": "T",
"aa_start": 1042,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5198,
"cdna_start": 3477,
"cds_end": null,
"cds_length": 3810,
"cds_start": 3125,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000878706.1",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.3125C>A",
"hgvs_p": "p.Thr1042Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548765.1",
"strand": false,
"transcript": "ENST00000878706.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1269,
"aa_ref": "T",
"aa_start": 1042,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5092,
"cdna_start": 3371,
"cds_end": null,
"cds_length": 3810,
"cds_start": 3125,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000935633.1",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.3125C>A",
"hgvs_p": "p.Thr1042Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605692.1",
"strand": false,
"transcript": "ENST00000935633.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "T",
"aa_start": 1034,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5169,
"cdna_start": 3452,
"cds_end": null,
"cds_length": 3786,
"cds_start": 3101,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000878707.1",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.3101C>A",
"hgvs_p": "p.Thr1034Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548766.1",
"strand": false,
"transcript": "ENST00000878707.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1238,
"aa_ref": "T",
"aa_start": 1011,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5069,
"cdna_start": 3348,
"cds_end": null,
"cds_length": 3717,
"cds_start": 3032,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001300731.2",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.3032C>A",
"hgvs_p": "p.Thr1011Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287660.1",
"strand": false,
"transcript": "NM_001300731.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1238,
"aa_ref": "T",
"aa_start": 1011,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4975,
"cdna_start": 3256,
"cds_end": null,
"cds_length": 3717,
"cds_start": 3032,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000935635.1",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.3032C>A",
"hgvs_p": "p.Thr1011Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605694.1",
"strand": false,
"transcript": "ENST00000935635.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1238,
"aa_ref": "T",
"aa_start": 1011,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5053,
"cdna_start": 3332,
"cds_end": null,
"cds_length": 3717,
"cds_start": 3032,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000953643.1",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.3032C>A",
"hgvs_p": "p.Thr1011Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623702.1",
"strand": false,
"transcript": "ENST00000953643.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "T",
"aa_start": 982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5069,
"cdna_start": 3348,
"cds_end": null,
"cds_length": 3630,
"cds_start": 2945,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000878708.1",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.2945C>A",
"hgvs_p": "p.Thr982Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548767.1",
"strand": false,
"transcript": "ENST00000878708.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "T",
"aa_start": 982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4895,
"cdna_start": 3174,
"cds_end": null,
"cds_length": 3630,
"cds_start": 2945,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000935634.1",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.2945C>A",
"hgvs_p": "p.Thr982Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605693.1",
"strand": false,
"transcript": "ENST00000935634.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "T",
"aa_start": 982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4977,
"cdna_start": 3256,
"cds_end": null,
"cds_length": 3630,
"cds_start": 2945,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000935636.1",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.2945C>A",
"hgvs_p": "p.Thr982Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605695.1",
"strand": false,
"transcript": "ENST00000935636.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "T",
"aa_start": 981,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4979,
"cdna_start": 3258,
"cds_end": null,
"cds_length": 3627,
"cds_start": 2942,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001367471.1",
"gene_hgnc_id": 25990,
"gene_symbol": "AMBRA1",
"hgvs_c": "c.2942C>A",
"hgvs_p": "p.Thr981Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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