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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: 11-47719983-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47719983&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47719983,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001441100.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.2909G>A",
"hgvs_p": "p.Arg970Gln",
"transcript": "NM_015308.5",
"protein_id": "NP_056123.2",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263773.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015308.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.2909G>A",
"hgvs_p": "p.Arg970Gln",
"transcript": "ENST00000263773.10",
"protein_id": "ENSP00000263773.5",
"transcript_support_level": 1,
"aa_start": 970,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015308.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263773.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.3134G>A",
"hgvs_p": "p.Arg1045Gln",
"transcript": "NM_001441100.1",
"protein_id": "NP_001428029.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1092,
"cds_start": 3134,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441100.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.3134G>A",
"hgvs_p": "p.Arg1045Gln",
"transcript": "NM_001441101.1",
"protein_id": "NP_001428030.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1092,
"cds_start": 3134,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441101.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.3128G>A",
"hgvs_p": "p.Arg1043Gln",
"transcript": "NM_001441102.1",
"protein_id": "NP_001428031.1",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1090,
"cds_start": 3128,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441102.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.3128G>A",
"hgvs_p": "p.Arg1043Gln",
"transcript": "ENST00000917808.1",
"protein_id": "ENSP00000587867.1",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1090,
"cds_start": 3128,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917808.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.2915G>A",
"hgvs_p": "p.Arg972Gln",
"transcript": "NM_001318339.4",
"protein_id": "NP_001305268.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2915,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318339.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.2915G>A",
"hgvs_p": "p.Arg972Gln",
"transcript": "ENST00000883715.1",
"protein_id": "ENSP00000553774.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2915,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883715.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.2822G>A",
"hgvs_p": "p.Arg941Gln",
"transcript": "NM_001441103.1",
"protein_id": "NP_001428032.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 988,
"cds_start": 2822,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441103.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.2816G>A",
"hgvs_p": "p.Arg939Gln",
"transcript": "NM_001441104.1",
"protein_id": "NP_001428033.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 986,
"cds_start": 2816,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441104.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.2630G>A",
"hgvs_p": "p.Arg877Gln",
"transcript": "NM_001441105.1",
"protein_id": "NP_001428034.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 924,
"cds_start": 2630,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441105.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.2585G>A",
"hgvs_p": "p.Arg862Gln",
"transcript": "NM_001441106.1",
"protein_id": "NP_001428035.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 909,
"cds_start": 2585,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441106.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.2459G>A",
"hgvs_p": "p.Arg820Gln",
"transcript": "NM_001441107.1",
"protein_id": "NP_001428036.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 867,
"cds_start": 2459,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441107.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.2429G>A",
"hgvs_p": "p.Arg810Gln",
"transcript": "NM_001441108.1",
"protein_id": "NP_001428037.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 857,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441108.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.2234G>A",
"hgvs_p": "p.Arg745Gln",
"transcript": "ENST00000961496.1",
"protein_id": "ENSP00000631555.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 792,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961496.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.1787G>A",
"hgvs_p": "p.Arg596Gln",
"transcript": "XM_047426655.1",
"protein_id": "XP_047282611.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 643,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426655.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Arg468Gln",
"transcript": "XM_047426658.1",
"protein_id": "XP_047282614.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 515,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426658.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.*90G>A",
"hgvs_p": null,
"transcript": "XM_047426651.1",
"protein_id": "XP_047282607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 827,
"cds_start": null,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426651.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "c.*90G>A",
"hgvs_p": null,
"transcript": "XM_047426651.1",
"protein_id": "XP_047282607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 827,
"cds_start": null,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426651.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"hgvs_c": "n.333G>A",
"hgvs_p": null,
"transcript": "ENST00000526109.6",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000526109.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305470",
"gene_hgnc_id": null,
"hgvs_c": "n.178C>T",
"hgvs_p": null,
"transcript": "ENST00000811195.1",
"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": "ENST00000811195.1"
}
],
"gene_symbol": "FNBP4",
"gene_hgnc_id": 19752,
"dbsnp": "rs769984885",
"frequency_reference_population": 0.0000034204872,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342049,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7455229759216309,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.283,
"revel_prediction": "Benign",
"alphamissense_score": 0.1503,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.525,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,PP3,BS2",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 4,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001441100.1",
"gene_symbol": "FNBP4",
"hgnc_id": 19752,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3134G>A",
"hgvs_p": "p.Arg1045Gln"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000811195.1",
"gene_symbol": "ENSG00000305470",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.178C>T",
"hgvs_p": null
}
],
"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
}