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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: 11-62664857-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62664857&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62664857,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024099.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBHD1",
"gene_hgnc_id": 28351,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Glu219Lys",
"transcript": "NM_024099.5",
"protein_id": "NP_077004.2",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 263,
"cds_start": 655,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": "ENST00000354588.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBHD1",
"gene_hgnc_id": 28351,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Glu219Lys",
"transcript": "ENST00000354588.8",
"protein_id": "ENSP00000346600.3",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 263,
"cds_start": 655,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": "NM_024099.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf98",
"gene_hgnc_id": 51238,
"hgvs_c": "c.156G>A",
"hgvs_p": "p.Lys52Lys",
"transcript": "NM_001286086.2",
"protein_id": "NP_001273015.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 123,
"cds_start": 156,
"cds_end": null,
"cds_length": 372,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 646,
"mane_select": "ENST00000524958.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf98",
"gene_hgnc_id": 51238,
"hgvs_c": "c.156G>A",
"hgvs_p": "p.Lys52Lys",
"transcript": "ENST00000524958.6",
"protein_id": "ENSP00000432523.2",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 123,
"cds_start": 156,
"cds_end": null,
"cds_length": 372,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 646,
"mane_select": "NM_001286086.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255432",
"gene_hgnc_id": null,
"hgvs_c": "c.156G>A",
"hgvs_p": "p.Lys52Lys",
"transcript": "ENST00000528405.1",
"protein_id": "ENSP00000435188.1",
"transcript_support_level": 4,
"aa_start": 52,
"aa_end": null,
"aa_length": 99,
"cds_start": 156,
"cds_end": null,
"cds_length": 300,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBHD1",
"gene_hgnc_id": 28351,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Glu383Lys",
"transcript": "NM_001394599.1",
"protein_id": "NP_001381528.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 427,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 2116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBHD1",
"gene_hgnc_id": 28351,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Glu284Lys",
"transcript": "NM_001394601.1",
"protein_id": "NP_001381530.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 328,
"cds_start": 850,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBHD1",
"gene_hgnc_id": 28351,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Glu275Lys",
"transcript": "NM_001394596.1",
"protein_id": "NP_001381525.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 319,
"cds_start": 823,
"cds_end": null,
"cds_length": 960,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBHD1",
"gene_hgnc_id": 28351,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Glu245Lys",
"transcript": "NM_001367940.2",
"protein_id": "NP_001354869.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 289,
"cds_start": 733,
"cds_end": null,
"cds_length": 870,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBHD1",
"gene_hgnc_id": 28351,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Glu245Lys",
"transcript": "ENST00000431002.6",
"protein_id": "ENSP00000416856.2",
"transcript_support_level": 2,
"aa_start": 245,
"aa_end": null,
"aa_length": 289,
"cds_start": 733,
"cds_end": null,
"cds_length": 870,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBHD1",
"gene_hgnc_id": 28351,
"hgvs_c": "c.730G>A",
"hgvs_p": "p.Glu244Lys",
"transcript": "NM_001394604.1",
"protein_id": "NP_001381533.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 288,
"cds_start": 730,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBHD1",
"gene_hgnc_id": 28351,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Glu219Lys",
"transcript": "NM_001367941.2",
"protein_id": "NP_001354870.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 263,
"cds_start": 655,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBHD1",
"gene_hgnc_id": 28351,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Glu219Lys",
"transcript": "NM_001394609.1",
"protein_id": "NP_001381538.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 263,
"cds_start": 655,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBHD1",
"gene_hgnc_id": 28351,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Glu219Lys",
"transcript": "NM_001394611.1",
"protein_id": "NP_001381540.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 263,
"cds_start": 655,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBHD1",
"gene_hgnc_id": 28351,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Glu219Lys",
"transcript": "NM_001394612.1",
"protein_id": "NP_001381541.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 263,
"cds_start": 655,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBHD1",
"gene_hgnc_id": 28351,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Glu219Lys",
"transcript": "ENST00000532208.5",
"protein_id": "ENSP00000436848.1",
"transcript_support_level": 5,
"aa_start": 219,
"aa_end": null,
"aa_length": 263,
"cds_start": 655,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 1508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBHD1",
"gene_hgnc_id": 28351,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Glu176Lys",
"transcript": "NM_001394606.1",
"protein_id": "NP_001381535.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 220,
"cds_start": 526,
"cds_end": null,
"cds_length": 663,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBHD1",
"gene_hgnc_id": 28351,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Glu145Lys",
"transcript": "NM_001394607.1",
"protein_id": "NP_001381536.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 189,
"cds_start": 433,
"cds_end": null,
"cds_length": 570,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf98",
"gene_hgnc_id": 51238,
"hgvs_c": "c.156G>A",
"hgvs_p": "p.Lys52Lys",
"transcript": "ENST00000525675.1",
"protein_id": "ENSP00000432316.1",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 122,
"cds_start": 156,
"cds_end": null,
"cds_length": 369,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 405,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf98",
"gene_hgnc_id": 51238,
"hgvs_c": "n.325G>A",
"hgvs_p": null,
"transcript": "ENST00000532786.2",
"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": 774,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf98",
"gene_hgnc_id": 51238,
"hgvs_c": "n.360G>A",
"hgvs_p": null,
"transcript": "NR_104414.1",
"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": 809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBHD1",
"gene_hgnc_id": 28351,
"hgvs_c": "c.*29G>A",
"hgvs_p": null,
"transcript": "ENST00000415855.6",
"protein_id": "ENSP00000410979.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 263,
"cds_start": -4,
"cds_end": null,
"cds_length": 794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LBHD1",
"gene_hgnc_id": 28351,
"dbsnp": "rs750901662",
"frequency_reference_population": 0.000016558104,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000176297,
"gnomad_genomes_af": 0.00000657186,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25799810886383057,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.379,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1784,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.868,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_024099.5",
"gene_symbol": "LBHD1",
"hgnc_id": 28351,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Glu219Lys"
},
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001286086.2",
"gene_symbol": "C11orf98",
"hgnc_id": 51238,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.156G>A",
"hgvs_p": "p.Lys52Lys"
},
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000528405.1",
"gene_symbol": "ENSG00000255432",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.156G>A",
"hgvs_p": "p.Lys52Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}