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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: 3-169800667-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=169800667&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 169800667,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000446859.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC34",
"gene_hgnc_id": 28408,
"hgvs_c": "c.745A>C",
"hgvs_p": "p.Ser249Arg",
"transcript": "NM_001172779.2",
"protein_id": "NP_001166250.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 464,
"cds_start": 745,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 2383,
"mane_select": "ENST00000446859.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC34",
"gene_hgnc_id": 28408,
"hgvs_c": "c.745A>C",
"hgvs_p": "p.Ser249Arg",
"transcript": "ENST00000446859.7",
"protein_id": "ENSP00000414635.1",
"transcript_support_level": 2,
"aa_start": 249,
"aa_end": null,
"aa_length": 464,
"cds_start": 745,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 2383,
"mane_select": "NM_001172779.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LRRC34",
"gene_hgnc_id": 28408,
"hgvs_c": "c.657+3386A>C",
"hgvs_p": null,
"transcript": "ENST00000522526.6",
"protein_id": "ENSP00000429278.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": -4,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC34",
"gene_hgnc_id": 28408,
"hgvs_c": "c.562A>C",
"hgvs_p": "p.Ser188Arg",
"transcript": "NM_001363888.2",
"protein_id": "NP_001350817.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 403,
"cds_start": 562,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC34",
"gene_hgnc_id": 28408,
"hgvs_c": "c.562A>C",
"hgvs_p": "p.Ser188Arg",
"transcript": "ENST00000522830.5",
"protein_id": "ENSP00000429593.1",
"transcript_support_level": 5,
"aa_start": 188,
"aa_end": null,
"aa_length": 403,
"cds_start": 562,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC34",
"gene_hgnc_id": 28408,
"hgvs_c": "c.559A>C",
"hgvs_p": "p.Ser187Arg",
"transcript": "NM_001370608.1",
"protein_id": "NP_001357537.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 402,
"cds_start": 559,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 2220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC34",
"gene_hgnc_id": 28408,
"hgvs_c": "c.745A>C",
"hgvs_p": "p.Ser249Arg",
"transcript": "NM_001172780.2",
"protein_id": "NP_001166251.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 361,
"cds_start": 745,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 4631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC34",
"gene_hgnc_id": 28408,
"hgvs_c": "c.562A>C",
"hgvs_p": "p.Ser188Arg",
"transcript": "NM_001370609.1",
"protein_id": "NP_001357538.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 300,
"cds_start": 562,
"cds_end": null,
"cds_length": 903,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC34",
"gene_hgnc_id": 28408,
"hgvs_c": "c.742A>C",
"hgvs_p": "p.Ser248Arg",
"transcript": "XM_011512442.3",
"protein_id": "XP_011510744.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 463,
"cds_start": 742,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC34",
"gene_hgnc_id": 28408,
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Ser231Arg",
"transcript": "XM_006713508.5",
"protein_id": "XP_006713571.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 446,
"cds_start": 691,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC34",
"gene_hgnc_id": 28408,
"hgvs_c": "c.688A>C",
"hgvs_p": "p.Ser230Arg",
"transcript": "XM_047447491.1",
"protein_id": "XP_047303447.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 418,
"cds_start": 688,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 3502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC34",
"gene_hgnc_id": 28408,
"hgvs_c": "c.559A>C",
"hgvs_p": "p.Ser187Arg",
"transcript": "XM_047447492.1",
"protein_id": "XP_047303448.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 402,
"cds_start": 559,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC34",
"gene_hgnc_id": 28408,
"hgvs_c": "n.722A>C",
"hgvs_p": null,
"transcript": "ENST00000522080.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC34",
"gene_hgnc_id": 28408,
"hgvs_c": "n.727A>C",
"hgvs_p": null,
"transcript": "ENST00000522596.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 3787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC34",
"gene_hgnc_id": 28408,
"hgvs_c": "n.593A>C",
"hgvs_p": null,
"transcript": "ENST00000524054.5",
"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": 756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC34",
"gene_hgnc_id": 28408,
"hgvs_c": "n.545A>C",
"hgvs_p": null,
"transcript": "ENST00000524327.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LRRC34",
"gene_hgnc_id": 28408,
"hgvs_c": "c.657+3386A>C",
"hgvs_p": null,
"transcript": "NM_153353.5",
"protein_id": "NP_699184.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": -4,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LRRC34",
"gene_hgnc_id": 28408,
"dbsnp": "rs6793295",
"frequency_reference_population": 0.0004072285,
"hom_count_reference_population": 0,
"allele_count_reference_population": 622,
"gnomad_exomes_af": 0.000432598,
"gnomad_genomes_af": 0.000177648,
"gnomad_exomes_ac": 595,
"gnomad_genomes_ac": 27,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09282943606376648,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
"alphamissense_score": 0.2799,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.682,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000446859.7",
"gene_symbol": "LRRC34",
"hgnc_id": 28408,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.745A>C",
"hgvs_p": "p.Ser249Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}