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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: 8-109245337-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=109245337&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 109245337,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032869.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "c.1444A>G",
"hgvs_p": "p.Thr482Ala",
"transcript": "NM_032869.4",
"protein_id": "NP_116258.2",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 583,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 3919,
"mane_select": "ENST00000239690.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032869.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "c.1444A>G",
"hgvs_p": "p.Thr482Ala",
"transcript": "ENST00000239690.9",
"protein_id": "ENSP00000239690.4",
"transcript_support_level": 1,
"aa_start": 482,
"aa_end": null,
"aa_length": 583,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 3919,
"mane_select": "NM_032869.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000239690.9"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "c.1357A>G",
"hgvs_p": "p.Thr453Ala",
"transcript": "ENST00000427660.6",
"protein_id": "ENSP00000410707.2",
"transcript_support_level": 1,
"aa_start": 453,
"aa_end": null,
"aa_length": 554,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427660.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "n.*1209A>G",
"hgvs_p": null,
"transcript": "ENST00000519607.5",
"protein_id": "ENSP00000430095.1",
"transcript_support_level": 1,
"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": 2286,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000519607.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "n.*1209A>G",
"hgvs_p": null,
"transcript": "ENST00000519607.5",
"protein_id": "ENSP00000430095.1",
"transcript_support_level": 1,
"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": 2286,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000519607.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "c.1441A>G",
"hgvs_p": "p.Thr481Ala",
"transcript": "ENST00000931096.1",
"protein_id": "ENSP00000601155.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 582,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 3958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931096.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "c.1357A>G",
"hgvs_p": "p.Thr453Ala",
"transcript": "NM_001128211.2",
"protein_id": "NP_001121683.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 554,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128211.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "c.1318A>G",
"hgvs_p": "p.Thr440Ala",
"transcript": "ENST00000931100.1",
"protein_id": "ENSP00000601159.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 541,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931100.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "c.1300A>G",
"hgvs_p": "p.Thr434Ala",
"transcript": "ENST00000967053.1",
"protein_id": "ENSP00000637112.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 535,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967053.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "c.1261A>G",
"hgvs_p": "p.Thr421Ala",
"transcript": "ENST00000931101.1",
"protein_id": "ENSP00000601160.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 522,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931101.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "c.1258A>G",
"hgvs_p": "p.Thr420Ala",
"transcript": "ENST00000931099.1",
"protein_id": "ENSP00000601158.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 521,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931099.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Thr182Ala",
"transcript": "ENST00000931097.1",
"protein_id": "ENSP00000601156.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 283,
"cds_start": 544,
"cds_end": null,
"cds_length": 852,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 1292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931097.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "c.418A>G",
"hgvs_p": "p.Thr140Ala",
"transcript": "ENST00000931098.1",
"protein_id": "ENSP00000601157.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 241,
"cds_start": 418,
"cds_end": null,
"cds_length": 726,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 1138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931098.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "c.1183A>G",
"hgvs_p": "p.Thr395Ala",
"transcript": "XM_047422330.1",
"protein_id": "XP_047278286.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 496,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422330.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "c.1404A>G",
"hgvs_p": "p.Gln468Gln",
"transcript": "ENST00000678094.1",
"protein_id": "ENSP00000503886.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 472,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678094.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "n.1555A>G",
"hgvs_p": null,
"transcript": "ENST00000676569.1",
"protein_id": null,
"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": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000676569.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "n.1071A>G",
"hgvs_p": null,
"transcript": "ENST00000676990.1",
"protein_id": null,
"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": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000676990.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "n.*1109A>G",
"hgvs_p": null,
"transcript": "ENST00000677182.1",
"protein_id": "ENSP00000503895.1",
"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": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677182.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "n.4965A>G",
"hgvs_p": null,
"transcript": "ENST00000678168.1",
"protein_id": null,
"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": 7340,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000678168.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "n.1333A>G",
"hgvs_p": null,
"transcript": "ENST00000679027.1",
"protein_id": null,
"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": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679027.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"hgvs_c": "n.*1109A>G",
"hgvs_p": null,
"transcript": "ENST00000677182.1",
"protein_id": "ENSP00000503895.1",
"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": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677182.1"
}
],
"gene_symbol": "NUDCD1",
"gene_hgnc_id": 24306,
"dbsnp": "rs575612770",
"frequency_reference_population": 0.0000049590385,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000410701,
"gnomad_genomes_af": 0.000013132,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8431584239006042,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.697,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2996,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.549,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032869.4",
"gene_symbol": "NUDCD1",
"hgnc_id": 24306,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1444A>G",
"hgvs_p": "p.Thr482Ala"
}
],
"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
}