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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: 5-157378278-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=157378278&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 157378278,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000620254.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.3040-4312A>T",
"hgvs_p": null,
"transcript": "NM_001037333.3",
"protein_id": "NP_001032410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1253,
"cds_start": -4,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6452,
"mane_select": "ENST00000620254.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.3040-4312A>T",
"hgvs_p": null,
"transcript": "ENST00000620254.5",
"protein_id": "ENSP00000479968.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1253,
"cds_start": -4,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6452,
"mane_select": "NM_001037333.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.3115-4312A>T",
"hgvs_p": null,
"transcript": "ENST00000616178.4",
"protein_id": "ENSP00000479719.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1278,
"cds_start": -4,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.3040-4312A>T",
"hgvs_p": null,
"transcript": "ENST00000618329.4",
"protein_id": "ENSP00000484819.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1253,
"cds_start": -4,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285868",
"gene_hgnc_id": null,
"hgvs_c": "c.-2232-1772T>A",
"hgvs_p": null,
"transcript": "ENST00000519499.2",
"protein_id": "ENSP00000496943.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": -4,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.3181-4312A>T",
"hgvs_p": null,
"transcript": "ENST00000698888.1",
"protein_id": "ENSP00000514007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1300,
"cds_start": -4,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.3115-4312A>T",
"hgvs_p": null,
"transcript": "NM_001291722.2",
"protein_id": "NP_001278651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1278,
"cds_start": -4,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.3040-4312A>T",
"hgvs_p": null,
"transcript": "NM_014376.4",
"protein_id": "NP_055191.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1253,
"cds_start": -4,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.2962-4312A>T",
"hgvs_p": null,
"transcript": "NM_001291721.2",
"protein_id": "NP_001278650.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1227,
"cds_start": -4,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.2962-4312A>T",
"hgvs_p": null,
"transcript": "ENST00000521420.5",
"protein_id": "ENSP00000430904.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1227,
"cds_start": -4,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.2632-4312A>T",
"hgvs_p": null,
"transcript": "ENST00000435847.6",
"protein_id": "ENSP00000403793.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1117,
"cds_start": -4,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.2452-4312A>T",
"hgvs_p": null,
"transcript": "ENST00000522463.5",
"protein_id": "ENSP00000428009.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1057,
"cds_start": -4,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248544",
"gene_hgnc_id": null,
"hgvs_c": "n.728-1333T>A",
"hgvs_p": null,
"transcript": "ENST00000508443.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "n.195-4312A>T",
"hgvs_p": null,
"transcript": "ENST00000522892.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NIPAL4-DT",
"gene_hgnc_id": 55542,
"hgvs_c": "n.94-1772T>A",
"hgvs_p": null,
"transcript": "NR_136204.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NIPAL4-DT",
"gene_hgnc_id": 55542,
"hgvs_c": "n.94-13673T>A",
"hgvs_p": null,
"transcript": "NR_136205.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.3040-4312A>T",
"hgvs_p": null,
"transcript": "XM_011534516.4",
"protein_id": "XP_011532818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1253,
"cds_start": -4,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.3040-4312A>T",
"hgvs_p": null,
"transcript": "XM_047417100.1",
"protein_id": "XP_047273056.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1253,
"cds_start": -4,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.2827-4312A>T",
"hgvs_p": null,
"transcript": "XM_047417101.1",
"protein_id": "XP_047273057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1182,
"cds_start": -4,
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"cds_length": 3549,
"cdna_start": null,
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"cdna_length": 6243,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.2674-4312A>T",
"hgvs_p": null,
"transcript": "XM_047417102.1",
"protein_id": "XP_047273058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1131,
"cds_start": -4,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
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"cdna_length": 6155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"dbsnp": "rs10515748",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.228,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000620254.5",
"gene_symbol": "CYFIP2",
"hgnc_id": 13760,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3040-4312A>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000519499.2",
"gene_symbol": "ENSG00000285868",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-2232-1772T>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_136204.1",
"gene_symbol": "NIPAL4-DT",
"hgnc_id": 55542,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.94-1772T>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000508443.1",
"gene_symbol": "ENSG00000248544",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.728-1333T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}