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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: 2-197756444-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=197756444&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 197756444,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001284361.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Glu238Gly",
"transcript": "NM_033030.6",
"protein_id": "NP_149019.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 283,
"cds_start": 713,
"cds_end": null,
"cds_length": 852,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": "ENST00000392296.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033030.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Glu238Gly",
"transcript": "ENST00000392296.9",
"protein_id": "ENSP00000376116.4",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 283,
"cds_start": 713,
"cds_end": null,
"cds_length": 852,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": "NM_033030.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392296.9"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Glu238Gly",
"transcript": "ENST00000433157.1",
"protein_id": "ENSP00000396099.1",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 283,
"cds_start": 713,
"cds_end": null,
"cds_length": 852,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433157.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000222017",
"gene_hgnc_id": null,
"hgvs_c": "n.167-15413T>C",
"hgvs_p": null,
"transcript": "ENST00000409845.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1032,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000409845.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "c.917A>G",
"hgvs_p": "p.Glu306Gly",
"transcript": "ENST00000696103.1",
"protein_id": "ENSP00000512398.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 351,
"cds_start": 917,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696103.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "c.797A>G",
"hgvs_p": "p.Glu266Gly",
"transcript": "NM_001284361.2",
"protein_id": "NP_001271290.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 339,
"cds_start": 797,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 3285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284361.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "c.779A>G",
"hgvs_p": "p.Glu260Gly",
"transcript": "ENST00000430004.5",
"protein_id": "ENSP00000397711.1",
"transcript_support_level": 2,
"aa_start": 260,
"aa_end": null,
"aa_length": 333,
"cds_start": 779,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430004.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Glu250Gly",
"transcript": "NM_197970.3",
"protein_id": "NP_932074.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 295,
"cds_start": 749,
"cds_end": null,
"cds_length": 888,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 2756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_197970.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Glu250Gly",
"transcript": "ENST00000321801.11",
"protein_id": "ENSP00000314792.7",
"transcript_support_level": 2,
"aa_start": 250,
"aa_end": null,
"aa_length": 295,
"cds_start": 749,
"cds_end": null,
"cds_length": 888,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321801.11"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "c.731A>G",
"hgvs_p": "p.Glu244Gly",
"transcript": "NM_001284362.2",
"protein_id": "NP_001271291.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 289,
"cds_start": 731,
"cds_end": null,
"cds_length": 870,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284362.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Glu129Gly",
"transcript": "NM_001284358.2",
"protein_id": "NP_001271287.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 174,
"cds_start": 386,
"cds_end": null,
"cds_length": 525,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284358.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "c.815A>G",
"hgvs_p": "p.Glu272Gly",
"transcript": "XM_047445580.1",
"protein_id": "XP_047301536.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 345,
"cds_start": 815,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 1460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445580.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "c.815A>G",
"hgvs_p": "p.Glu272Gly",
"transcript": "XM_011511692.4",
"protein_id": "XP_011509994.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 317,
"cds_start": 815,
"cds_end": null,
"cds_length": 954,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511692.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "c.809A>G",
"hgvs_p": "p.Glu270Gly",
"transcript": "XM_024453053.2",
"protein_id": "XP_024308821.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 315,
"cds_start": 809,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453053.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "c.815A>G",
"hgvs_p": "p.Glu272Gly",
"transcript": "XM_011511693.4",
"protein_id": "XP_011509995.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 313,
"cds_start": 815,
"cds_end": null,
"cds_length": 942,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 1160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511693.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "c.779A>G",
"hgvs_p": "p.Glu260Gly",
"transcript": "XM_011511694.3",
"protein_id": "XP_011509996.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 305,
"cds_start": 779,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 2862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511694.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Glu250Gly",
"transcript": "XM_006712715.5",
"protein_id": "XP_006712778.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 291,
"cds_start": 749,
"cds_end": null,
"cds_length": 876,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 1094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712715.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "n.*354A>G",
"hgvs_p": null,
"transcript": "ENST00000434976.5",
"protein_id": "ENSP00000416911.1",
"transcript_support_level": 2,
"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": 1372,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000434976.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "n.2A>G",
"hgvs_p": null,
"transcript": "ENST00000468827.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 476,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000468827.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"hgvs_c": "n.*354A>G",
"hgvs_p": null,
"transcript": "ENST00000434976.5",
"protein_id": "ENSP00000416911.1",
"transcript_support_level": 2,
"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": 1372,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000434976.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000222017",
"gene_hgnc_id": null,
"hgvs_c": "n.214-15413T>C",
"hgvs_p": null,
"transcript": "ENST00000721462.1",
"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": 506,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000721462.1"
}
],
"gene_symbol": "BOLL",
"gene_hgnc_id": 14273,
"dbsnp": "rs140027779",
"frequency_reference_population": 0.000022991933,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.000024707,
"gnomad_genomes_af": 0.00000657091,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20996904373168945,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
"alphamissense_score": 0.1377,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.175,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_001284361.2",
"gene_symbol": "BOLL",
"hgnc_id": 14273,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.797A>G",
"hgvs_p": "p.Glu266Gly"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000409845.1",
"gene_symbol": "ENSG00000222017",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.167-15413T>C",
"hgvs_p": null
}
],
"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
}