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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: 1-161544750-AAA-TAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161544750&ref=AAA&alt=TAC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "FCGR3A",
"hgnc_id": 3619,
"hgvs_c": "c.838_840delTTTinsGTA",
"hgvs_p": "p.Phe280Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001127592.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000310467",
"hgnc_id": null,
"hgvs_c": "n.185+3721_185+3723delAAAinsTAC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000850089.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000273112",
"hgnc_id": null,
"hgvs_c": "n.271+26613_271+26615delAAAinsTAC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000537821.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "ENSG00000289768",
"hgnc_id": null,
"hgvs_c": "c.*55_*57delTTTinsGTA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000699402.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 254,
"aa_ref": "F",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 610,
"cds_end": null,
"cds_length": 765,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000569.8",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.526_528delTTTinsGTA",
"hgvs_p": "p.Phe176Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000443193.6",
"protein_coding": true,
"protein_id": "NP_000560.7",
"strand": false,
"transcript": "NM_000569.8",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 254,
"aa_ref": "F",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 610,
"cds_end": null,
"cds_length": 765,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000443193.6",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.526_528delTTTinsGTA",
"hgvs_p": "p.Phe176Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000569.8",
"protein_coding": true,
"protein_id": "ENSP00000392047.2",
"strand": false,
"transcript": "ENST00000443193.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 358,
"aa_ref": "F",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2382,
"cdna_start": 892,
"cds_end": null,
"cds_length": 1077,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127592.2",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.838_840delTTTinsGTA",
"hgvs_p": "p.Phe280Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121064.2",
"strand": false,
"transcript": "NM_001127592.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 279,
"aa_ref": "F",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2148,
"cdna_start": 658,
"cds_end": null,
"cds_length": 840,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946731.1",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.601_603delTTTinsGTA",
"hgvs_p": "p.Phe201Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616790.1",
"strand": false,
"transcript": "ENST00000946731.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 269,
"aa_ref": "F",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 642,
"cds_end": null,
"cds_length": 810,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699401.1",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.526_528delTTTinsGTA",
"hgvs_p": "p.Phe176Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514362.1",
"strand": false,
"transcript": "ENST00000699401.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 262,
"aa_ref": "F",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3613,
"cdna_start": 642,
"cds_end": null,
"cds_length": 789,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699398.1",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.526_528delTTTinsGTA",
"hgvs_p": "p.Phe176Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514359.1",
"strand": false,
"transcript": "ENST00000699398.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 254,
"aa_ref": "F",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2173,
"cdna_start": 683,
"cds_end": null,
"cds_length": 765,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127593.1",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.526_528delTTTinsGTA",
"hgvs_p": "p.Phe176Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121065.1",
"strand": false,
"transcript": "NM_001127593.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 254,
"aa_ref": "F",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 663,
"cds_end": null,
"cds_length": 765,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127595.2",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.526_528delTTTinsGTA",
"hgvs_p": "p.Phe176Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121067.1",
"strand": false,
"transcript": "NM_001127595.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 254,
"aa_ref": "F",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2164,
"cdna_start": 674,
"cds_end": null,
"cds_length": 765,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001329120.2",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.526_528delTTTinsGTA",
"hgvs_p": "p.Phe176Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316049.1",
"strand": false,
"transcript": "NM_001329120.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 254,
"aa_ref": "F",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 660,
"cds_end": null,
"cds_length": 765,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367967.8",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.526_528delTTTinsGTA",
"hgvs_p": "p.Phe176Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356944.3",
"strand": false,
"transcript": "ENST00000367967.8",
"transcript_support_level": 3
},
{
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"aa_length": 254,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2162,
"cdna_start": 681,
"cds_end": null,
"cds_length": 765,
"cds_start": 526,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000436743.7",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.526_528delTTTinsGTA",
"hgvs_p": "p.Phe176Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416607.1",
"strand": false,
"transcript": "ENST00000436743.7",
"transcript_support_level": 5
},
{
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"aa_ref": "F",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2241,
"cdna_start": 760,
"cds_end": null,
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"cds_start": 526,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000699395.1",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.526_528delTTTinsGTA",
"hgvs_p": "p.Phe176Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514356.1",
"strand": false,
"transcript": "ENST00000699395.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 254,
"aa_ref": "F",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2115,
"cdna_start": 634,
"cds_end": null,
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"cds_start": 526,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699396.1",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.526_528delTTTinsGTA",
"hgvs_p": "p.Phe176Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514357.1",
"strand": false,
"transcript": "ENST00000699396.1",
"transcript_support_level": null
},
{
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"aa_length": 254,
"aa_ref": "F",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2386,
"cdna_start": 905,
"cds_end": null,
"cds_length": 765,
"cds_start": 526,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699397.1",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.526_528delTTTinsGTA",
"hgvs_p": "p.Phe176Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514358.1",
"strand": false,
"transcript": "ENST00000699397.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 254,
"aa_ref": "F",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 852,
"cds_end": null,
"cds_length": 765,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946730.1",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.526_528delTTTinsGTA",
"hgvs_p": "p.Phe176Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616789.1",
"strand": false,
"transcript": "ENST00000946730.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 253,
"aa_ref": "F",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2150,
"cdna_start": 660,
"cds_end": null,
"cds_length": 762,
"cds_start": 523,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127596.2",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.523_525delTTTinsGTA",
"hgvs_p": "p.Phe175Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121068.1",
"strand": false,
"transcript": "NM_001127596.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 253,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2161,
"cdna_start": 671,
"cds_end": null,
"cds_length": 762,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001386450.1",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.523_525delTTTinsGTA",
"hgvs_p": "p.Phe175Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373379.1",
"strand": false,
"transcript": "NM_001386450.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 253,
"aa_ref": "F",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1339,
"cdna_start": 642,
"cds_end": null,
"cds_length": 762,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000426740.8",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.523_525delTTTinsGTA",
"hgvs_p": "p.Phe175Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410180.3",
"strand": false,
"transcript": "ENST00000426740.8",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 253,
"aa_ref": "F",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": 639,
"cds_end": null,
"cds_length": 762,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699400.1",
"gene_hgnc_id": 3619,
"gene_symbol": "FCGR3A",
"hgvs_c": "c.523_525delTTTinsGTA",
"hgvs_p": "p.Phe175Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514361.1",
"strand": false,
"transcript": "ENST00000699400.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 253,
"aa_ref": "F",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2150,
"cdna_start": 665,
"cds_end": null,
"cds_length": 762,
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