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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: 3-8532809-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=8532809&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 8532809,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014583.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMCD1",
"gene_hgnc_id": 6633,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Glu39Lys",
"transcript": "NM_014583.4",
"protein_id": "NP_055398.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 365,
"cds_start": 115,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 8284,
"mane_select": "ENST00000157600.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014583.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMCD1",
"gene_hgnc_id": 6633,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Glu39Lys",
"transcript": "ENST00000157600.8",
"protein_id": "ENSP00000157600.3",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 365,
"cds_start": 115,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 8284,
"mane_select": "NM_014583.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000157600.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMCD1",
"gene_hgnc_id": 6633,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Glu39Lys",
"transcript": "ENST00000880274.1",
"protein_id": "ENSP00000550333.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 362,
"cds_start": 115,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880274.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMCD1",
"gene_hgnc_id": 6633,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Glu39Lys",
"transcript": "ENST00000957327.1",
"protein_id": "ENSP00000627386.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 293,
"cds_start": 115,
"cds_end": null,
"cds_length": 882,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 1520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957327.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMCD1",
"gene_hgnc_id": 6633,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Arg12Gln",
"transcript": "NM_001278234.2",
"protein_id": "NP_001265163.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 253,
"cds_start": 35,
"cds_end": null,
"cds_length": 762,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 8028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278234.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMCD1",
"gene_hgnc_id": 6633,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Arg12Gln",
"transcript": "ENST00000397386.7",
"protein_id": "ENSP00000380542.3",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 253,
"cds_start": 35,
"cds_end": null,
"cds_length": 762,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397386.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMCD1",
"gene_hgnc_id": 6633,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Glu39Lys",
"transcript": "ENST00000957328.1",
"protein_id": "ENSP00000627387.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 253,
"cds_start": 115,
"cds_end": null,
"cds_length": 762,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 1360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957328.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMCD1",
"gene_hgnc_id": 6633,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Glu39Lys",
"transcript": "NM_001278235.2",
"protein_id": "NP_001265164.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 247,
"cds_start": 115,
"cds_end": null,
"cds_length": 744,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278235.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMCD1",
"gene_hgnc_id": 6633,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Glu39Lys",
"transcript": "ENST00000426878.2",
"protein_id": "ENSP00000411222.2",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 247,
"cds_start": 115,
"cds_end": null,
"cds_length": 744,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426878.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMCD1",
"gene_hgnc_id": 6633,
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Glu45Lys",
"transcript": "ENST00000415597.5",
"protein_id": "ENSP00000400555.1",
"transcript_support_level": 5,
"aa_start": 45,
"aa_end": null,
"aa_length": 232,
"cds_start": 133,
"cds_end": null,
"cds_length": 701,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415597.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LMCD1",
"gene_hgnc_id": 6633,
"hgvs_c": "c.-88-4376G>A",
"hgvs_p": null,
"transcript": "NM_001278233.2",
"protein_id": "NP_001265162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278233.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LMCD1",
"gene_hgnc_id": 6633,
"hgvs_c": "c.-88-4376G>A",
"hgvs_p": null,
"transcript": "ENST00000454244.4",
"protein_id": "ENSP00000396515.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454244.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LMCD1",
"gene_hgnc_id": 6633,
"hgvs_c": "c.43-15759G>A",
"hgvs_p": null,
"transcript": "ENST00000921338.1",
"protein_id": "ENSP00000591397.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": null,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921338.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LMCD1",
"gene_hgnc_id": 6633,
"hgvs_c": "c.42+30829G>A",
"hgvs_p": null,
"transcript": "ENST00000957329.1",
"protein_id": "ENSP00000627388.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": null,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957329.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMCD1",
"gene_hgnc_id": 6633,
"hgvs_c": "n.115G>A",
"hgvs_p": null,
"transcript": "ENST00000456506.2",
"protein_id": "ENSP00000405049.1",
"transcript_support_level": 2,
"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": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000456506.2"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMCD1",
"gene_hgnc_id": 6633,
"hgvs_c": "n.229G>A",
"hgvs_p": null,
"transcript": "ENST00000470776.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 579,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470776.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LMCD1-AS1",
"gene_hgnc_id": 44477,
"hgvs_c": "n.336-33960C>T",
"hgvs_p": null,
"transcript": "ENST00000439407.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 576,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000439407.1"
}
],
"gene_symbol": "LMCD1",
"gene_hgnc_id": 6633,
"dbsnp": "rs553073357",
"frequency_reference_population": 0.000024788953,
"hom_count_reference_population": 0,
"allele_count_reference_population": 40,
"gnomad_exomes_af": 0.0000212116,
"gnomad_genomes_af": 0.0000591498,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24815326929092407,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.253,
"revel_prediction": "Benign",
"alphamissense_score": 0.3209,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.167,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014583.4",
"gene_symbol": "LMCD1",
"hgnc_id": 6633,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Glu39Lys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000439407.1",
"gene_symbol": "LMCD1-AS1",
"hgnc_id": 44477,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.336-33960C>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
}