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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: 3-26709851-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=26709851&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 26709851,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_052953.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60Lys",
"transcript": "NM_052953.4",
"protein_id": "NP_443185.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 259,
"cds_start": 179,
"cds_end": null,
"cds_length": 780,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": "ENST00000396641.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052953.4"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60Lys",
"transcript": "ENST00000396641.7",
"protein_id": "ENSP00000379880.2",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 259,
"cds_start": 179,
"cds_end": null,
"cds_length": 780,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": "NM_052953.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396641.7"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60Lys",
"transcript": "ENST00000417744.5",
"protein_id": "ENSP00000406370.1",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 259,
"cds_start": 179,
"cds_end": null,
"cds_length": 780,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417744.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60Lys",
"transcript": "ENST00000456208.2",
"protein_id": "ENSP00000394940.2",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 259,
"cds_start": 179,
"cds_end": null,
"cds_length": 780,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456208.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60Lys",
"transcript": "NM_001317808.2",
"protein_id": "NP_001304737.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 259,
"cds_start": 179,
"cds_end": null,
"cds_length": 780,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 1429,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317808.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60Lys",
"transcript": "NM_001317809.2",
"protein_id": "NP_001304738.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 259,
"cds_start": 179,
"cds_end": null,
"cds_length": 780,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317809.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60Lys",
"transcript": "NM_001317810.3",
"protein_id": "NP_001304739.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 259,
"cds_start": 179,
"cds_end": null,
"cds_length": 780,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317810.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60Lys",
"transcript": "NM_001317811.2",
"protein_id": "NP_001304740.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 259,
"cds_start": 179,
"cds_end": null,
"cds_length": 780,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317811.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60Lys",
"transcript": "NM_001395645.1",
"protein_id": "NP_001382574.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 259,
"cds_start": 179,
"cds_end": null,
"cds_length": 780,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395645.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60Lys",
"transcript": "NM_001395646.1",
"protein_id": "NP_001382575.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 259,
"cds_start": 179,
"cds_end": null,
"cds_length": 780,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395646.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60Lys",
"transcript": "NM_001395647.1",
"protein_id": "NP_001382576.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 259,
"cds_start": 179,
"cds_end": null,
"cds_length": 780,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395647.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60Lys",
"transcript": "ENST00000891723.1",
"protein_id": "ENSP00000561782.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 259,
"cds_start": 179,
"cds_end": null,
"cds_length": 780,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891723.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60Lys",
"transcript": "ENST00000936107.1",
"protein_id": "ENSP00000606166.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 259,
"cds_start": 179,
"cds_end": null,
"cds_length": 780,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 1671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936107.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60Lys",
"transcript": "ENST00000432040.1",
"protein_id": "ENSP00000398184.1",
"transcript_support_level": 3,
"aa_start": 60,
"aa_end": null,
"aa_length": 162,
"cds_start": 179,
"cds_end": null,
"cds_length": 489,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432040.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60Lys",
"transcript": "XM_011533332.4",
"protein_id": "XP_011531634.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 259,
"cds_start": 179,
"cds_end": null,
"cds_length": 780,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533332.4"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60Lys",
"transcript": "XM_047447402.1",
"protein_id": "XP_047303358.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 259,
"cds_start": 179,
"cds_end": null,
"cds_length": 780,
"cdna_start": 2333,
"cdna_end": null,
"cdna_length": 3258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447402.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"hgvs_c": "n.179G>A",
"hgvs_p": null,
"transcript": "ENST00000648296.1",
"protein_id": "ENSP00000497471.1",
"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": 6913,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000648296.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"hgvs_c": "c.*15G>A",
"hgvs_p": null,
"transcript": "ENST00000414619.1",
"protein_id": "ENSP00000389764.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 53,
"cds_start": null,
"cds_end": null,
"cds_length": 164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414619.1"
}
],
"gene_symbol": "LRRC3B",
"gene_hgnc_id": 28105,
"dbsnp": "rs1700705226",
"frequency_reference_population": 6.840722e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84072e-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": 0.316995769739151,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.455,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0658,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.131,
"phylop100way_prediction": "Uncertain_significance",
"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_052953.4",
"gene_symbol": "LRRC3B",
"hgnc_id": 28105,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60Lys"
}
],
"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
}