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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: 1-3631643-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=3631643&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 3631643,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017818.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "NM_017818.4",
"protein_id": "NP_060288.3",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 460,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000270708.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017818.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "ENST00000270708.12",
"protein_id": "ENSP00000270708.7",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 460,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017818.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270708.12"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "ENST00000378322.7",
"protein_id": "ENSP00000367573.3",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 435,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378322.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "ENST00000960493.1",
"protein_id": "ENSP00000630552.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 456,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960493.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Ala348Thr",
"transcript": "ENST00000855126.1",
"protein_id": "ENSP00000525185.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 453,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855126.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "ENST00000855128.1",
"protein_id": "ENSP00000525187.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 442,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855128.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Ala313Thr",
"transcript": "ENST00000960492.1",
"protein_id": "ENSP00000630551.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 418,
"cds_start": 937,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960492.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Ala304Thr",
"transcript": "ENST00000855130.1",
"protein_id": "ENSP00000525189.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 409,
"cds_start": 910,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855130.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "c.907G>A",
"hgvs_p": "p.Ala303Thr",
"transcript": "ENST00000855127.1",
"protein_id": "ENSP00000525186.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 408,
"cds_start": 907,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855127.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Ala281Thr",
"transcript": "ENST00000920581.1",
"protein_id": "ENSP00000590640.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 386,
"cds_start": 841,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920581.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "c.793G>A",
"hgvs_p": "p.Ala265Thr",
"transcript": "ENST00000920579.1",
"protein_id": "ENSP00000590638.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 370,
"cds_start": 793,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920579.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Ala258Thr",
"transcript": "ENST00000920580.1",
"protein_id": "ENSP00000590639.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 363,
"cds_start": 772,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920580.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Ala255Thr",
"transcript": "ENST00000960494.1",
"protein_id": "ENSP00000630553.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 360,
"cds_start": 763,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960494.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Ala220Thr",
"transcript": "ENST00000855129.1",
"protein_id": "ENSP00000525188.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 325,
"cds_start": 658,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855129.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Ala348Thr",
"transcript": "XM_017001387.3",
"protein_id": "XP_016856876.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 453,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001387.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Ala310Thr",
"transcript": "XM_005244754.3",
"protein_id": "XP_005244811.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 415,
"cds_start": 928,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005244754.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "c.907G>A",
"hgvs_p": "p.Ala303Thr",
"transcript": "XM_047421661.1",
"protein_id": "XP_047277617.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 408,
"cds_start": 907,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421661.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "c.1071G>A",
"hgvs_p": "p.Met357Ile",
"transcript": "XM_047421663.1",
"protein_id": "XP_047277619.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 366,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421663.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"hgvs_c": "n.*243G>A",
"hgvs_p": null,
"transcript": "ENST00000471223.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000471223.1"
}
],
"gene_symbol": "WRAP73",
"gene_hgnc_id": 12759,
"dbsnp": "rs1238261453",
"frequency_reference_population": 0.0000055442897,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000554429,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18795248866081238,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.077,
"revel_prediction": "Benign",
"alphamissense_score": 0.0842,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.668,
"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": 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_017818.4",
"gene_symbol": "WRAP73",
"hgnc_id": 12759,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr"
}
],
"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
}