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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: 1-161677510-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161677510&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161677510,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004001.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.890A>G",
"hgvs_p": "p.His297Arg",
"transcript": "NM_001394477.1",
"protein_id": "NP_001381406.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 310,
"cds_start": 890,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358671.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394477.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.890A>G",
"hgvs_p": "p.His297Arg",
"transcript": "ENST00000358671.10",
"protein_id": "ENSP00000351497.5",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 310,
"cds_start": 890,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394477.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358671.10"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.His290Arg",
"transcript": "ENST00000367961.8",
"protein_id": "ENSP00000356938.4",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 303,
"cds_start": 869,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367961.8"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.833A>G",
"hgvs_p": "p.His278Arg",
"transcript": "ENST00000236937.13",
"protein_id": "ENSP00000236937.9",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 291,
"cds_start": 833,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000236937.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "n.4137A>G",
"hgvs_p": null,
"transcript": "ENST00000480308.5",
"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": "ENST00000480308.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.890A>G",
"hgvs_p": "p.His297Arg",
"transcript": "NM_004001.5",
"protein_id": "NP_003992.3",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 310,
"cds_start": 890,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004001.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.887A>G",
"hgvs_p": "p.His296Arg",
"transcript": "NM_001002275.3",
"protein_id": "NP_001002275.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 309,
"cds_start": 887,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002275.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.887A>G",
"hgvs_p": "p.His296Arg",
"transcript": "ENST00000880974.1",
"protein_id": "ENSP00000551033.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 309,
"cds_start": 887,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880974.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.His290Arg",
"transcript": "NM_001190828.2",
"protein_id": "NP_001177757.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 303,
"cds_start": 869,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190828.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.866A>G",
"hgvs_p": "p.His289Arg",
"transcript": "NM_001386000.1",
"protein_id": "NP_001372929.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 302,
"cds_start": 866,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386000.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.833A>G",
"hgvs_p": "p.His278Arg",
"transcript": "NM_001002274.3",
"protein_id": "NP_001002274.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 291,
"cds_start": 833,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002274.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.830A>G",
"hgvs_p": "p.His277Arg",
"transcript": "NM_001002273.3",
"protein_id": "NP_001002273.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 290,
"cds_start": 830,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002273.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.830A>G",
"hgvs_p": "p.His277Arg",
"transcript": "ENST00000880972.1",
"protein_id": "ENSP00000551031.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 290,
"cds_start": 830,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880972.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.830A>G",
"hgvs_p": "p.His277Arg",
"transcript": "ENST00000880973.1",
"protein_id": "ENSP00000551032.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 290,
"cds_start": 830,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880973.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.812A>G",
"hgvs_p": "p.His271Arg",
"transcript": "NM_001386001.1",
"protein_id": "NP_001372930.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 284,
"cds_start": 812,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386001.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.809A>G",
"hgvs_p": "p.His270Arg",
"transcript": "NM_001386002.1",
"protein_id": "NP_001372931.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 283,
"cds_start": 809,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386002.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.809A>G",
"hgvs_p": "p.His270Arg",
"transcript": "ENST00000880975.1",
"protein_id": "ENSP00000551034.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 283,
"cds_start": 809,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880975.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.*30A>G",
"hgvs_p": null,
"transcript": "NM_001386003.1",
"protein_id": "NP_001372932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": null,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386003.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.*30A>G",
"hgvs_p": null,
"transcript": "NM_001386004.1",
"protein_id": "NP_001372933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": null,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386004.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.*30A>G",
"hgvs_p": null,
"transcript": "NM_001386005.1",
"protein_id": "NP_001372934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": null,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386005.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "c.*30A>G",
"hgvs_p": null,
"transcript": "NM_001386006.1",
"protein_id": "NP_001372935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386006.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"hgvs_c": "n.1119A>G",
"hgvs_p": null,
"transcript": "NR_169827.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169827.1"
}
],
"gene_symbol": "FCGR2B",
"gene_hgnc_id": 3618,
"dbsnp": "rs2102683328",
"frequency_reference_population": 0.00000273639,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273639,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.291547030210495,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.168,
"revel_prediction": "Benign",
"alphamissense_score": 0.2715,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.677,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004001.5",
"gene_symbol": "FCGR2B",
"hgnc_id": 3618,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.890A>G",
"hgvs_p": "p.His297Arg"
}
],
"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
}