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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: 6-2948918-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=2948918&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SERPINB6",
"hgnc_id": 8950,
"hgvs_c": "c.782G>A",
"hgvs_p": "p.Arg261Lys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_001271823.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -16,
"allele_count_reference_population": 556,
"alphamissense_prediction": null,
"alphamissense_score": 0.0777,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "6",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.003913819789886475,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1315,
"cdna_start": 770,
"cds_end": null,
"cds_length": 1131,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_004568.6",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380539.7",
"protein_coding": true,
"protein_id": "NP_004559.4",
"strand": false,
"transcript": "NM_004568.6",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1315,
"cdna_start": 770,
"cds_end": null,
"cds_length": 1131,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000380539.7",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004568.6",
"protein_coding": true,
"protein_id": "ENSP00000369912.2",
"strand": false,
"transcript": "ENST00000380539.7",
"transcript_support_level": 3
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1313,
"cdna_start": 805,
"cds_end": null,
"cds_length": 1131,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000380520.6",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369891.1",
"strand": false,
"transcript": "ENST00000380520.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1495,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1131,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000380524.5",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369896.1",
"strand": false,
"transcript": "ENST00000380524.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1375,
"cdna_start": 830,
"cds_end": null,
"cds_length": 1131,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000380546.7",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369919.3",
"strand": false,
"transcript": "ENST00000380546.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1641,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1251,
"cds_start": 845,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000860479.1",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530538.1",
"strand": false,
"transcript": "ENST00000860479.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1460,
"cdna_start": 921,
"cds_end": null,
"cds_length": 1251,
"cds_start": 845,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000860496.1",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530555.1",
"strand": false,
"transcript": "ENST00000860496.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1525,
"cdna_start": 984,
"cds_end": null,
"cds_length": 1251,
"cds_start": 845,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000860507.1",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530566.1",
"strand": false,
"transcript": "ENST00000860507.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": 1267,
"cds_end": null,
"cds_length": 1188,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001271823.2",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.782G>A",
"hgvs_p": "p.Arg261Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258752.1",
"strand": false,
"transcript": "NM_001271823.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1566,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 1188,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000612421.3",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.782G>A",
"hgvs_p": "p.Arg261Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484343.1",
"strand": false,
"transcript": "ENST00000612421.3",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 390,
"aa_ref": "R",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 1186,
"cds_end": null,
"cds_length": 1173,
"cds_start": 767,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001271822.2",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Arg256Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258751.1",
"strand": false,
"transcript": "NM_001271822.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 380,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1450,
"cdna_start": 905,
"cds_end": null,
"cds_length": 1143,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001195291.3",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001182220.2",
"strand": false,
"transcript": "NM_001195291.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 380,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1492,
"cdna_start": 947,
"cds_end": null,
"cds_length": 1143,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001374515.1",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361444.1",
"strand": false,
"transcript": "NM_001374515.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 380,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2036,
"cdna_start": 1503,
"cds_end": null,
"cds_length": 1143,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000616722.4",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481398.1",
"strand": false,
"transcript": "ENST00000616722.4",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 380,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1565,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1143,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000645580.1",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495362.1",
"strand": false,
"transcript": "ENST00000645580.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1357,
"cdna_start": 812,
"cds_end": null,
"cds_length": 1131,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001271824.2",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258753.1",
"strand": false,
"transcript": "NM_001271824.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1517,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1131,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001271825.2",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258754.1",
"strand": false,
"transcript": "NM_001271825.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1600,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 1131,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001297699.2",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284628.1",
"strand": false,
"transcript": "NM_001297699.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1482,
"cdna_start": 937,
"cds_end": null,
"cds_length": 1131,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001297700.2",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284629.1",
"strand": false,
"transcript": "NM_001297700.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1308,
"cdna_start": 763,
"cds_end": null,
"cds_length": 1131,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001374516.1",
"gene_hgnc_id": 8950,
"gene_symbol": "SERPINB6",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361445.1",
"strand": false,
"transcript": "NM_001374516.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1370,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1131,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000380529.5",
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}