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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: 2-11211786-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=11211786&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 11211786,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004850.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Ser700Gly",
"transcript": "NM_004850.5",
"protein_id": "NP_004841.2",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1388,
"cds_start": 2098,
"cds_end": null,
"cds_length": 4167,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 8345,
"mane_select": "ENST00000315872.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004850.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Ser700Gly",
"transcript": "ENST00000315872.11",
"protein_id": "ENSP00000317985.6",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 1388,
"cds_start": 2098,
"cds_end": null,
"cds_length": 4167,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 8345,
"mane_select": "NM_004850.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315872.11"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Ser457Gly",
"transcript": "ENST00000401753.5",
"protein_id": "ENSP00000385509.1",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 1145,
"cds_start": 1369,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401753.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Ser700Gly",
"transcript": "ENST00000944889.1",
"protein_id": "ENSP00000614948.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1447,
"cds_start": 2098,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 2646,
"cdna_end": null,
"cdna_length": 8529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944889.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Ser700Gly",
"transcript": "ENST00000697752.1",
"protein_id": "ENSP00000513431.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1445,
"cds_start": 2098,
"cds_end": null,
"cds_length": 4338,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 8516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697752.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.2089A>G",
"hgvs_p": "p.Ser697Gly",
"transcript": "ENST00000944890.1",
"protein_id": "ENSP00000614949.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1385,
"cds_start": 2089,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 2580,
"cdna_end": null,
"cdna_length": 6113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944890.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.1915A>G",
"hgvs_p": "p.Ser639Gly",
"transcript": "ENST00000944891.1",
"protein_id": "ENSP00000614950.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 1384,
"cds_start": 1915,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 2383,
"cdna_end": null,
"cdna_length": 5743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944891.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.1840A>G",
"hgvs_p": "p.Ser614Gly",
"transcript": "NM_001321643.2",
"protein_id": "NP_001308572.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 1302,
"cds_start": 1840,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 7868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321643.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.409A>G",
"hgvs_p": "p.Ser137Gly",
"transcript": "ENST00000697790.1",
"protein_id": "ENSP00000513442.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 911,
"cds_start": 409,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 6431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697790.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Ser700Gly",
"transcript": "XM_005246190.4",
"protein_id": "XP_005246247.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1417,
"cds_start": 2098,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 8449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246190.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Ser700Gly",
"transcript": "XM_017005378.3",
"protein_id": "XP_016860867.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1404,
"cds_start": 2098,
"cds_end": null,
"cds_length": 4215,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 5802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005378.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.1840A>G",
"hgvs_p": "p.Ser614Gly",
"transcript": "XM_011510417.3",
"protein_id": "XP_011508719.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 1331,
"cds_start": 1840,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 7972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510417.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "c.1840A>G",
"hgvs_p": "p.Ser614Gly",
"transcript": "XM_017005379.3",
"protein_id": "XP_016860868.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 1331,
"cds_start": 1840,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 7827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005379.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "n.2458A>G",
"hgvs_p": null,
"transcript": "ENST00000697791.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000697791.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"hgvs_c": "n.2458A>G",
"hgvs_p": null,
"transcript": "ENST00000697792.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6561,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000697792.1"
}
],
"gene_symbol": "ROCK2",
"gene_hgnc_id": 10252,
"dbsnp": "rs762297001",
"frequency_reference_population": 0.0000020541418,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205414,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1009487509727478,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.0726,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.281,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004850.5",
"gene_symbol": "ROCK2",
"hgnc_id": 10252,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Ser700Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}