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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: 6-656506-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=656506&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 656506,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_148959.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUS1B",
"gene_hgnc_id": 16485,
"hgvs_c": "c.439C>G",
"hgvs_p": "p.Pro147Ala",
"transcript": "NM_148959.4",
"protein_id": "NP_683762.2",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 278,
"cds_start": 439,
"cds_end": null,
"cds_length": 837,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 1162,
"mane_select": "ENST00000380907.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUS1B",
"gene_hgnc_id": 16485,
"hgvs_c": "c.439C>G",
"hgvs_p": "p.Pro147Ala",
"transcript": "ENST00000380907.3",
"protein_id": "ENSP00000370293.2",
"transcript_support_level": 6,
"aa_start": 147,
"aa_end": null,
"aa_length": 278,
"cds_start": 439,
"cds_end": null,
"cds_length": 837,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 1162,
"mane_select": "NM_148959.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.-43-18645C>G",
"hgvs_p": null,
"transcript": "NM_018303.6",
"protein_id": "NP_060773.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": -4,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": "ENST00000230449.9",
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.-43-18645C>G",
"hgvs_p": null,
"transcript": "ENST00000230449.9",
"protein_id": "ENSP00000230449.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": -4,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": "NM_018303.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.-44+657C>G",
"hgvs_p": null,
"transcript": "ENST00000443083.5",
"protein_id": "ENSP00000406400.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": -4,
"cds_end": null,
"cds_length": 422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 720,
"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": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "n.283+657C>G",
"hgvs_p": null,
"transcript": "NR_073064.2",
"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": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.-43-18645C>G",
"hgvs_p": null,
"transcript": "XM_017011022.2",
"protein_id": "XP_016866511.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": -4,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.-43-18645C>G",
"hgvs_p": null,
"transcript": "XM_017011023.2",
"protein_id": "XP_016866512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": -4,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.-43-18645C>G",
"hgvs_p": null,
"transcript": "XM_017011024.2",
"protein_id": "XP_016866513.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": -4,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.-44+657C>G",
"hgvs_p": null,
"transcript": "XM_047419007.1",
"protein_id": "XP_047274963.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": -4,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.-43-18645C>G",
"hgvs_p": null,
"transcript": "XM_047419008.1",
"protein_id": "XP_047274964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": -4,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.-44+657C>G",
"hgvs_p": null,
"transcript": "XM_047419009.1",
"protein_id": "XP_047274965.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 924,
"cds_start": -4,
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"cds_length": 2775,
"cdna_start": null,
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"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.-209-8840C>G",
"hgvs_p": null,
"transcript": "XM_047419010.1",
"protein_id": "XP_047274966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": -4,
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"cds_length": 2775,
"cdna_start": null,
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"cdna_length": 4392,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.-43-18645C>G",
"hgvs_p": null,
"transcript": "XM_047419011.1",
"protein_id": "XP_047274967.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 2,
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"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.-43-18645C>G",
"hgvs_p": null,
"transcript": "XM_047419012.1",
"protein_id": "XP_047274968.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 924,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5048,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.-44+657C>G",
"hgvs_p": null,
"transcript": "XM_047419013.1",
"protein_id": "XP_047274969.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.-44+657C>G",
"hgvs_p": null,
"transcript": "XM_047419014.1",
"protein_id": "XP_047274970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.-209-8840C>G",
"hgvs_p": null,
"transcript": "XM_047419015.1",
"protein_id": "XP_047274971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4395,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.-43-18645C>G",
"hgvs_p": null,
"transcript": "XM_017011025.2",
"protein_id": "XP_016866514.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "EXOC2",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.-44+657C>G",
"hgvs_p": null,
"transcript": "XM_047419017.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.-43-18645C>G",
"hgvs_p": null,
"transcript": "XM_017011026.2",
"protein_id": "XP_016866515.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": -4,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
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"cdna_length": 2470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HUS1B",
"gene_hgnc_id": 16485,
"dbsnp": "rs774752902",
"frequency_reference_population": 6.88128e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.88128e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11197471618652344,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.0887,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.282,
"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_148959.4",
"gene_symbol": "HUS1B",
"hgnc_id": 16485,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.439C>G",
"hgvs_p": "p.Pro147Ala"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018303.6",
"gene_symbol": "EXOC2",
"hgnc_id": 24968,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.-43-18645C>G",
"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
}