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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: 2-171468988-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=171468988&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 171468988,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000375255.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Gln313Gln",
"transcript": "NM_025000.4",
"protein_id": "NP_079276.2",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 520,
"cds_start": 939,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 5853,
"mane_select": "ENST00000375255.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Gln313Gln",
"transcript": "ENST00000375255.8",
"protein_id": "ENSP00000364404.3",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 520,
"cds_start": 939,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 5853,
"mane_select": "NM_025000.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.189G>A",
"hgvs_p": "p.Gln63Gln",
"transcript": "ENST00000339506.7",
"protein_id": "ENSP00000342160.3",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 270,
"cds_start": 189,
"cds_end": null,
"cds_length": 813,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.99G>A",
"hgvs_p": "p.Gln33Gln",
"transcript": "ENST00000611110.4",
"protein_id": "ENSP00000477604.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 240,
"cds_start": 99,
"cds_end": null,
"cds_length": 723,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Lys",
"transcript": "XM_017004999.2",
"protein_id": "XP_016860488.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 286,
"cds_start": 833,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Lys",
"transcript": "XM_017005001.3",
"protein_id": "XP_016860490.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 286,
"cds_start": 833,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 1250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Lys",
"transcript": "XM_047445913.1",
"protein_id": "XP_047301869.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 286,
"cds_start": 833,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 1311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Gln313Gln",
"transcript": "NM_001164821.2",
"protein_id": "NP_001158293.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 453,
"cds_start": 939,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 5652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Gln313Gln",
"transcript": "ENST00000539783.5",
"protein_id": "ENSP00000442238.1",
"transcript_support_level": 5,
"aa_start": 313,
"aa_end": null,
"aa_length": 453,
"cds_start": 939,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 5623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.906G>A",
"hgvs_p": "p.Gln302Gln",
"transcript": "XM_011511881.2",
"protein_id": "XP_011510183.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 509,
"cds_start": 906,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 5820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.876G>A",
"hgvs_p": "p.Gln292Gln",
"transcript": "XM_011511882.2",
"protein_id": "XP_011510184.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 499,
"cds_start": 876,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 5790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.906G>A",
"hgvs_p": "p.Gln302Gln",
"transcript": "XM_047445911.1",
"protein_id": "XP_047301867.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 442,
"cds_start": 906,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 5619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.678G>A",
"hgvs_p": "p.Gln226Gln",
"transcript": "XM_006712768.2",
"protein_id": "XP_006712831.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 433,
"cds_start": 678,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.876G>A",
"hgvs_p": "p.Gln292Gln",
"transcript": "XM_047445912.1",
"protein_id": "XP_047301868.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 432,
"cds_start": 876,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 5589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Gln313Gln",
"transcript": "XM_017004996.2",
"protein_id": "XP_016860485.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 372,
"cds_start": 939,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "n.761G>A",
"hgvs_p": null,
"transcript": "ENST00000468592.5",
"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": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "n.12G>A",
"hgvs_p": null,
"transcript": "ENST00000493106.1",
"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": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "n.1185G>A",
"hgvs_p": null,
"transcript": "NR_028482.2",
"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": 5747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "n.1291G>A",
"hgvs_p": null,
"transcript": "XR_007082530.1",
"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": 1508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"dbsnp": "rs61731491",
"frequency_reference_population": 0.0076602334,
"hom_count_reference_population": 722,
"allele_count_reference_population": 12364,
"gnomad_exomes_af": 0.00433854,
"gnomad_genomes_af": 0.0395487,
"gnomad_exomes_ac": 6342,
"gnomad_genomes_ac": 6022,
"gnomad_exomes_homalt": 328,
"gnomad_genomes_homalt": 394,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09799999743700027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.098,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.324,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000375255.8",
"gene_symbol": "DCAF17",
"hgnc_id": 25784,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Gln313Gln"
}
],
"clinvar_disease": "Woodhouse-Sakati syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|Woodhouse-Sakati syndrome|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}