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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: 8-132572310-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132572310&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DNAAF11",
"hgnc_id": 16725,
"hgvs_c": "c.1397T>C",
"hgvs_p": "p.Ile466Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_012472.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 161845,
"alphamissense_prediction": null,
"alphamissense_score": 0.4869,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "8",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Primary ciliary dyskinesia,Primary ciliary dyskinesia 19,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0019569993019104004,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 466,
"aa_ref": "I",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3343,
"cdna_start": 1449,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_012472.6",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.1397T>C",
"hgvs_p": "p.Ile466Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000620350.5",
"protein_coding": true,
"protein_id": "NP_036604.2",
"strand": false,
"transcript": "NM_012472.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 466,
"aa_ref": "I",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3343,
"cdna_start": 1449,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000620350.5",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.1397T>C",
"hgvs_p": "p.Ile466Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012472.6",
"protein_coding": true,
"protein_id": "ENSP00000484634.1",
"strand": false,
"transcript": "ENST00000620350.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 466,
"aa_ref": "I",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": 1496,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000519595.5",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.1397T>C",
"hgvs_p": "p.Ile466Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429791.1",
"strand": false,
"transcript": "ENST00000519595.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 411,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1672,
"cdna_start": null,
"cds_end": null,
"cds_length": 1236,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000250173.5",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.*261T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000250173.2",
"strand": false,
"transcript": "ENST00000250173.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 411,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": null,
"cds_end": null,
"cds_length": 1236,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000518642.5",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.*261T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428610.1",
"strand": false,
"transcript": "ENST00000518642.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 492,
"aa_ref": "I",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3431,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1475,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000869719.1",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Ile492Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539778.1",
"strand": false,
"transcript": "ENST00000869719.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 465,
"aa_ref": "I",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": 1512,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000940685.1",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.1394T>C",
"hgvs_p": "p.Ile465Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610744.1",
"strand": false,
"transcript": "ENST00000940685.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 446,
"aa_ref": "I",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3283,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1341,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001321961.2",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.1337T>C",
"hgvs_p": "p.Ile446Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308890.1",
"strand": false,
"transcript": "NM_001321961.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 446,
"aa_ref": "I",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 1341,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000869720.1",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.1337T>C",
"hgvs_p": "p.Ile446Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539779.1",
"strand": false,
"transcript": "ENST00000869720.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "I",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1334,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000940684.1",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.1334T>C",
"hgvs_p": "p.Ile445Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610743.1",
"strand": false,
"transcript": "ENST00000940684.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 384,
"aa_ref": "I",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3097,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 1155,
"cds_start": 1151,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001321962.2",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.1151T>C",
"hgvs_p": "p.Ile384Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308891.1",
"strand": false,
"transcript": "NM_001321962.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 384,
"aa_ref": "I",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3152,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 1155,
"cds_start": 1151,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869718.1",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.1151T>C",
"hgvs_p": "p.Ile384Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539777.1",
"strand": false,
"transcript": "ENST00000869718.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 364,
"aa_ref": "I",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1331,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1091,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000940687.1",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.1091T>C",
"hgvs_p": "p.Ile364Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610746.1",
"strand": false,
"transcript": "ENST00000940687.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 363,
"aa_ref": "I",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1398,
"cdna_start": 1154,
"cds_end": null,
"cds_length": 1092,
"cds_start": 1088,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000940686.1",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.1088T>C",
"hgvs_p": "p.Ile363Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610745.1",
"strand": false,
"transcript": "ENST00000940686.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 346,
"aa_ref": "I",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3903,
"cdna_start": 2009,
"cds_end": null,
"cds_length": 1041,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001321963.2",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.1037T>C",
"hgvs_p": "p.Ile346Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308892.1",
"strand": false,
"transcript": "NM_001321963.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 346,
"aa_ref": "I",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4269,
"cdna_start": 2375,
"cds_end": null,
"cds_length": 1041,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001321964.2",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.1037T>C",
"hgvs_p": "p.Ile346Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308893.1",
"strand": false,
"transcript": "NM_001321964.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 346,
"aa_ref": "I",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4582,
"cdna_start": 2688,
"cds_end": null,
"cds_length": 1041,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001321965.2",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.1037T>C",
"hgvs_p": "p.Ile346Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308894.1",
"strand": false,
"transcript": "NM_001321965.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 326,
"aa_ref": "I",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3493,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 981,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001321966.2",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.977T>C",
"hgvs_p": "p.Ile326Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308895.1",
"strand": false,
"transcript": "NM_001321966.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 206,
"aa_ref": "I",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 728,
"cdna_start": 617,
"cds_end": null,
"cds_length": 621,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000522789.5",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.617T>C",
"hgvs_p": "p.Ile206Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428015.1",
"strand": false,
"transcript": "ENST00000522789.5",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 472,
"aa_ref": "I",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4059,
"cdna_start": 2165,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_006716538.4",
"gene_hgnc_id": 16725,
"gene_symbol": "DNAAF11",
"hgvs_c": "c.1415T>C",
"hgvs_p": "p.Ile472Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716601.2",
"strand": false,
"transcript": "XM_006716538.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 452,
"aa_ref": "I",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4337,
"cdna_start": 2443,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1355,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
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}