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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: 14-65721948-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=65721948&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 65721948,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000673929.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "NM_001371533.1",
"protein_id": "NP_001358462.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 575,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 4249,
"mane_select": "ENST00000673929.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "ENST00000673929.1",
"protein_id": "ENSP00000501213.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 575,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 4249,
"mane_select": "NM_001371533.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "ENST00000360689.9",
"protein_id": "ENSP00000353910.5",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 575,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 2736,
"cdna_end": null,
"cdna_length": 5166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "ENST00000394586.6",
"protein_id": "ENSP00000378087.2",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 575,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 2108,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.622C>G",
"hgvs_p": "p.Arg208Gly",
"transcript": "ENST00000358307.6",
"protein_id": "ENSP00000351057.2",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 446,
"cds_start": 622,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 2664,
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "n.836-11283C>G",
"hgvs_p": null,
"transcript": "ENST00000342677.10",
"protein_id": "ENSP00000345865.6",
"transcript_support_level": 1,
"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": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.1111C>G",
"hgvs_p": "p.Arg371Gly",
"transcript": "NM_001371536.1",
"protein_id": "NP_001358465.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 609,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 3997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "NM_001371534.1",
"protein_id": "NP_001358463.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 575,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "NM_178155.3",
"protein_id": "NP_835368.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 575,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 3895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "NM_178156.2",
"protein_id": "NP_835369.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 575,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 2638,
"cdna_end": null,
"cdna_length": 5068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "ENST00000674118.1",
"protein_id": "ENSP00000501008.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 460,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.520C>G",
"hgvs_p": "p.Arg174Gly",
"transcript": "NM_004480.4",
"protein_id": "NP_004471.4",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 412,
"cds_start": 520,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.520C>G",
"hgvs_p": "p.Arg174Gly",
"transcript": "ENST00000557164.5",
"protein_id": "ENSP00000452433.1",
"transcript_support_level": 2,
"aa_start": 174,
"aa_end": null,
"aa_length": 412,
"cds_start": 520,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.1111C>G",
"hgvs_p": "p.Arg371Gly",
"transcript": "XM_017021138.2",
"protein_id": "XP_016876627.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 609,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 2740,
"cdna_end": null,
"cdna_length": 5170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.1111C>G",
"hgvs_p": "p.Arg371Gly",
"transcript": "XM_047431177.1",
"protein_id": "XP_047287133.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 609,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 2902,
"cdna_end": null,
"cdna_length": 5332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.1111C>G",
"hgvs_p": "p.Arg371Gly",
"transcript": "XM_047431178.1",
"protein_id": "XP_047287134.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 609,
"cds_start": 1111,
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"cds_length": 1830,
"cdna_start": 3310,
"cdna_end": null,
"cdna_length": 5740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.1111C>G",
"hgvs_p": "p.Arg371Gly",
"transcript": "XM_047431179.1",
"protein_id": "XP_047287135.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 609,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 4331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.1111C>G",
"hgvs_p": "p.Arg371Gly",
"transcript": "XM_047431180.1",
"protein_id": "XP_047287136.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 609,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 12713,
"cdna_end": null,
"cdna_length": 15143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "XM_047431181.1",
"protein_id": "XP_047287137.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 575,
"cds_start": 1009,
"cds_end": null,
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"cdna_start": 2800,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": null,
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"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "n.2563-11283C>G",
"hgvs_p": null,
"transcript": "NR_038167.1",
"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": 4742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "n.*90C>G",
"hgvs_p": null,
"transcript": "ENST00000554765.1",
"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,
"cdna_end": null,
"cdna_length": 665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "n.*36C>G",
"hgvs_p": null,
"transcript": "ENST00000557536.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"dbsnp": "rs1297536872",
"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": 0.908243715763092,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.964,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9179,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.51,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000673929.1",
"gene_symbol": "FUT8",
"hgnc_id": 4019,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly"
}
],
"clinvar_disease": "Congenital disorder of glycosylation with defective fucosylation 1",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Congenital disorder of glycosylation with defective fucosylation 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}