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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: 14-49782884-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=49782884&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 49782884,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_014315.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC2",
"gene_hgnc_id": 20231,
"hgvs_c": "c.1152C>T",
"hgvs_p": "p.Asn384Asn",
"transcript": "NM_014315.3",
"protein_id": "NP_055130.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 406,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": "ENST00000298307.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014315.3"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC2",
"gene_hgnc_id": 20231,
"hgvs_c": "c.1152C>T",
"hgvs_p": "p.Asn384Asn",
"transcript": "ENST00000298307.10",
"protein_id": "ENSP00000298307.5",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 406,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": "NM_014315.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298307.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEMF",
"gene_hgnc_id": 10663,
"hgvs_c": "c.*1752G>A",
"hgvs_p": null,
"transcript": "NM_004713.6",
"protein_id": "NP_004704.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1076,
"cds_start": null,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5819,
"mane_select": "ENST00000298310.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004713.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEMF",
"gene_hgnc_id": 10663,
"hgvs_c": "c.*1752G>A",
"hgvs_p": null,
"transcript": "ENST00000298310.10",
"protein_id": "ENSP00000298310.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1076,
"cds_start": null,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5819,
"mane_select": "NM_004713.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298310.10"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC2",
"gene_hgnc_id": 20231,
"hgvs_c": "c.1068C>T",
"hgvs_p": "p.Asn356Asn",
"transcript": "ENST00000893243.1",
"protein_id": "ENSP00000563302.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 378,
"cds_start": 1068,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893243.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC2",
"gene_hgnc_id": 20231,
"hgvs_c": "c.969C>T",
"hgvs_p": "p.Asn323Asn",
"transcript": "ENST00000913008.1",
"protein_id": "ENSP00000583067.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 345,
"cds_start": 969,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913008.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC2",
"gene_hgnc_id": 20231,
"hgvs_c": "c.954C>T",
"hgvs_p": "p.Asn318Asn",
"transcript": "ENST00000893244.1",
"protein_id": "ENSP00000563303.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 340,
"cds_start": 954,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893244.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC2",
"gene_hgnc_id": 20231,
"hgvs_c": "c.936C>T",
"hgvs_p": "p.Asn312Asn",
"transcript": "XM_011536610.2",
"protein_id": "XP_011534912.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 334,
"cds_start": 936,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 3401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536610.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEMF",
"gene_hgnc_id": 10663,
"hgvs_c": "c.*1752G>A",
"hgvs_p": null,
"transcript": "NM_001301732.3",
"protein_id": "NP_001288661.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1055,
"cds_start": null,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301732.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC2",
"gene_hgnc_id": 20231,
"hgvs_c": "c.*25C>T",
"hgvs_p": null,
"transcript": "ENST00000554589.5",
"protein_id": "ENSP00000451439.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": null,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554589.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC2",
"gene_hgnc_id": 20231,
"hgvs_c": "c.*102C>T",
"hgvs_p": null,
"transcript": "ENST00000557247.1",
"protein_id": "ENSP00000450658.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557247.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEMF",
"gene_hgnc_id": 10663,
"hgvs_c": "c.*1752G>A",
"hgvs_p": null,
"transcript": "XM_017021761.2",
"protein_id": "XP_016877250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 847,
"cds_start": null,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021761.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEMF",
"gene_hgnc_id": 10663,
"hgvs_c": "c.*1752G>A",
"hgvs_p": null,
"transcript": "XM_047431912.1",
"protein_id": "XP_047287868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 847,
"cds_start": null,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "KLHDC2",
"gene_hgnc_id": 20231,
"hgvs_c": "c.1097+290C>T",
"hgvs_p": null,
"transcript": "XM_006720094.5",
"protein_id": "XP_006720157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 368,
"cds_start": null,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720094.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC2",
"gene_hgnc_id": 20231,
"hgvs_c": "n.566C>T",
"hgvs_p": null,
"transcript": "ENST00000553579.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 600,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000553579.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC2",
"gene_hgnc_id": 20231,
"hgvs_c": "n.*474C>T",
"hgvs_p": null,
"transcript": "ENST00000555443.5",
"protein_id": "ENSP00000450944.1",
"transcript_support_level": 2,
"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": 1756,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555443.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC2",
"gene_hgnc_id": 20231,
"hgvs_c": "n.*386C>T",
"hgvs_p": null,
"transcript": "ENST00000555739.5",
"protein_id": "ENSP00000450539.1",
"transcript_support_level": 5,
"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": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555739.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC2",
"gene_hgnc_id": 20231,
"hgvs_c": "n.*474C>T",
"hgvs_p": null,
"transcript": "ENST00000555443.5",
"protein_id": "ENSP00000450944.1",
"transcript_support_level": 2,
"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": 1756,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555443.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC2",
"gene_hgnc_id": 20231,
"hgvs_c": "n.*386C>T",
"hgvs_p": null,
"transcript": "ENST00000555739.5",
"protein_id": "ENSP00000450539.1",
"transcript_support_level": 5,
"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": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555739.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC2",
"gene_hgnc_id": 20231,
"hgvs_c": "n.*175C>T",
"hgvs_p": null,
"transcript": "ENST00000554115.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 437,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000554115.5"
}
],
"gene_symbol": "KLHDC2",
"gene_hgnc_id": 20231,
"dbsnp": "rs148198716",
"frequency_reference_population": 0.00013262813,
"hom_count_reference_population": 0,
"allele_count_reference_population": 214,
"gnomad_exomes_af": 0.000130021,
"gnomad_genomes_af": 0.000157656,
"gnomad_exomes_ac": 190,
"gnomad_genomes_ac": 24,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.44,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_014315.3",
"gene_symbol": "KLHDC2",
"hgnc_id": 20231,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1152C>T",
"hgvs_p": "p.Asn384Asn"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "NM_004713.6",
"gene_symbol": "NEMF",
"hgnc_id": 10663,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1752G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}