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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: 11-62664891-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62664891&ref=A&alt=G&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62664891,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001286086.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.122T>C",
"hgvs_p": "p.Ile41Thr",
"transcript": "NM_001286086.2",
"protein_id": "NP_001273015.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 123,
"cds_start": 122,
"cds_end": null,
"cds_length": 372,
"cdna_start": 163,
"cdna_end": null,
"cdna_length": 646,
"mane_select": "ENST00000524958.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.122T>C",
"hgvs_p": "p.Ile41Thr",
"transcript": "ENST00000524958.6",
"protein_id": "ENSP00000432523.2",
"transcript_support_level": 2,
"aa_start": 41,
"aa_end": null,
"aa_length": 123,
"cds_start": 122,
"cds_end": null,
"cds_length": 372,
"cdna_start": 163,
"cdna_end": null,
"cdna_length": 646,
"mane_select": "NM_001286086.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.122T>C",
"hgvs_p": "p.Ile41Thr",
"transcript": "ENST00000528405.1",
"protein_id": "ENSP00000435188.1",
"transcript_support_level": 4,
"aa_start": 41,
"aa_end": null,
"aa_length": 99,
"cds_start": 122,
"cds_end": null,
"cds_length": 300,
"cdna_start": 131,
"cdna_end": null,
"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.621T>C",
"hgvs_p": "p.Asp207Asp",
"transcript": "NM_024099.5",
"protein_id": "NP_077004.2",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 263,
"cds_start": 621,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": "ENST00000354588.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.621T>C",
"hgvs_p": "p.Asp207Asp",
"transcript": "ENST00000354588.8",
"protein_id": "ENSP00000346600.3",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 263,
"cds_start": 621,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": "NM_024099.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.122T>C",
"hgvs_p": "p.Ile41Thr",
"transcript": "ENST00000525675.1",
"protein_id": "ENSP00000432316.1",
"transcript_support_level": 2,
"aa_start": 41,
"aa_end": null,
"aa_length": 122,
"cds_start": 122,
"cds_end": null,
"cds_length": 369,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1113T>C",
"hgvs_p": "p.Asp371Asp",
"transcript": "NM_001394599.1",
"protein_id": "NP_001381528.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 427,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 2116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.816T>C",
"hgvs_p": "p.Asp272Asp",
"transcript": "NM_001394601.1",
"protein_id": "NP_001381530.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 328,
"cds_start": 816,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.789T>C",
"hgvs_p": "p.Asp263Asp",
"transcript": "NM_001394596.1",
"protein_id": "NP_001381525.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 319,
"cds_start": 789,
"cds_end": null,
"cds_length": 960,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.699T>C",
"hgvs_p": "p.Asp233Asp",
"transcript": "NM_001367940.2",
"protein_id": "NP_001354869.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 289,
"cds_start": 699,
"cds_end": null,
"cds_length": 870,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.699T>C",
"hgvs_p": "p.Asp233Asp",
"transcript": "ENST00000431002.6",
"protein_id": "ENSP00000416856.2",
"transcript_support_level": 2,
"aa_start": 233,
"aa_end": null,
"aa_length": 289,
"cds_start": 699,
"cds_end": null,
"cds_length": 870,
"cdna_start": 2433,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.696T>C",
"hgvs_p": "p.Asp232Asp",
"transcript": "NM_001394604.1",
"protein_id": "NP_001381533.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 288,
"cds_start": 696,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBHD1",
"gene_hgnc_id": 28351,
"hgvs_c": "c.789T>C",
"hgvs_p": "p.Asp263Asp",
"transcript": "ENST00000415855.6",
"protein_id": "ENSP00000410979.3",
"transcript_support_level": 3,
"aa_start": 263,
"aa_end": null,
"aa_length": 263,
"cds_start": 789,
"cds_end": null,
"cds_length": 794,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.621T>C",
"hgvs_p": "p.Asp207Asp",
"transcript": "NM_001367941.2",
"protein_id": "NP_001354870.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 263,
"cds_start": 621,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.621T>C",
"hgvs_p": "p.Asp207Asp",
"transcript": "NM_001394609.1",
"protein_id": "NP_001381538.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 263,
"cds_start": 621,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.621T>C",
"hgvs_p": "p.Asp207Asp",
"transcript": "NM_001394611.1",
"protein_id": "NP_001381540.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 263,
"cds_start": 621,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.621T>C",
"hgvs_p": "p.Asp207Asp",
"transcript": "NM_001394612.1",
"protein_id": "NP_001381541.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 263,
"cds_start": 621,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.621T>C",
"hgvs_p": "p.Asp207Asp",
"transcript": "ENST00000532208.5",
"protein_id": "ENSP00000436848.1",
"transcript_support_level": 5,
"aa_start": 207,
"aa_end": null,
"aa_length": 263,
"cds_start": 621,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 1508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.492T>C",
"hgvs_p": "p.Asp164Asp",
"transcript": "NM_001394606.1",
"protein_id": "NP_001381535.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 220,
"cds_start": 492,
"cds_end": null,
"cds_length": 663,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.399T>C",
"hgvs_p": "p.Asp133Asp",
"transcript": "NM_001394607.1",
"protein_id": "NP_001381536.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 189,
"cds_start": 399,
"cds_end": null,
"cds_length": 570,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 1644,
"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.291T>C",
"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.326T>C",
"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
}
],
"gene_symbol": "C11orf98",
"gene_hgnc_id": 51238,
"dbsnp": "rs532701253",
"frequency_reference_population": 0.0000062594063,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000625941,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4219033718109131,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.34,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2303,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.762,
"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_001286086.2",
"gene_symbol": "C11orf98",
"hgnc_id": 51238,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.122T>C",
"hgvs_p": "p.Ile41Thr"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000528405.1",
"gene_symbol": "ENSG00000255432",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.122T>C",
"hgvs_p": "p.Ile41Thr"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024099.5",
"gene_symbol": "LBHD1",
"hgnc_id": 28351,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.621T>C",
"hgvs_p": "p.Asp207Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}