← Back to variant description
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: 12-51920831-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51920831&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 51920831,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000388922.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"transcript": "NM_000020.3",
"protein_id": "NP_000011.2",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 503,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 4177,
"mane_select": "ENST00000388922.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"transcript": "ENST00000388922.9",
"protein_id": "ENSP00000373574.4",
"transcript_support_level": 1,
"aa_start": 484,
"aa_end": null,
"aa_length": 503,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 4177,
"mane_select": "NM_000020.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1492C>T",
"hgvs_p": "p.Arg498Trp",
"transcript": "ENST00000550683.5",
"protein_id": "ENSP00000447884.1",
"transcript_support_level": 1,
"aa_start": 498,
"aa_end": null,
"aa_length": 517,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1593,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"transcript": "ENST00000551576.6",
"protein_id": "ENSP00000455848.2",
"transcript_support_level": 1,
"aa_start": 484,
"aa_end": null,
"aa_length": 503,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 4270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"transcript": "NM_001077401.2",
"protein_id": "NP_001070869.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 503,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1542,
"cdna_end": null,
"cdna_length": 4072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"transcript": "NM_001406487.1",
"protein_id": "NP_001393416.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 503,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 4234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1345C>T",
"hgvs_p": "p.Arg449Trp",
"transcript": "ENST00000713619.1",
"protein_id": "ENSP00000518916.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 468,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1294C>T",
"hgvs_p": "p.Arg432Trp",
"transcript": "NM_001406490.1",
"protein_id": "NP_001393419.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 451,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1180C>T",
"hgvs_p": "p.Arg394Trp",
"transcript": "ENST00000547400.6",
"protein_id": "ENSP00000446724.2",
"transcript_support_level": 3,
"aa_start": 394,
"aa_end": null,
"aa_length": 413,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1138C>T",
"hgvs_p": "p.Arg380Trp",
"transcript": "NM_001406491.1",
"protein_id": "NP_001393420.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 399,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 3865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1138C>T",
"hgvs_p": "p.Arg380Trp",
"transcript": "NM_001406492.1",
"protein_id": "NP_001393421.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 399,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Arg314Trp",
"transcript": "NM_001406494.1",
"protein_id": "NP_001393423.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 333,
"cds_start": 940,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Arg310Trp",
"transcript": "ENST00000419526.6",
"protein_id": "ENSP00000392492.2",
"transcript_support_level": 2,
"aa_start": 310,
"aa_end": null,
"aa_length": 329,
"cds_start": 928,
"cds_end": null,
"cds_length": 990,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 1356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Trp",
"transcript": "NM_001406495.1",
"protein_id": "NP_001393424.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 315,
"cds_start": 886,
"cds_end": null,
"cds_length": 948,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"transcript": "XM_047429901.1",
"protein_id": "XP_047285857.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 503,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 4244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"dbsnp": "rs121909288",
"frequency_reference_population": 0.0000018599206,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136866,
"gnomad_genomes_af": 0.00000659248,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9917304515838623,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.915,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.894,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.478,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 19,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 19,
"benign_score": 0,
"pathogenic_score": 19,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000388922.9",
"gene_symbol": "ACVRL1",
"hgnc_id": 175,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp"
}
],
"clinvar_disease": " hereditary hemorrhagic, type 2,Cardiovascular phenotype,Pulmonary arterial hypertension,Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia,Telangiectasia,not provided,not specified",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7",
"phenotype_combined": "Telangiectasia, hereditary hemorrhagic, type 2|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia|Pulmonary arterial hypertension|not specified|not provided|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}