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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: 8-144466436-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144466436&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144466436,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_145754.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Ser6*",
"transcript": "NM_001369769.2",
"protein_id": "NP_001356698.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 791,
"cds_start": 17,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000645548.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369769.2"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Ser6*",
"transcript": "ENST00000645548.2",
"protein_id": "ENSP00000494595.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 791,
"cds_start": 17,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001369769.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645548.2"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Ser6*",
"transcript": "ENST00000301332.3",
"protein_id": "ENSP00000301332.2",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 838,
"cds_start": 17,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301332.3"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Ser6*",
"transcript": "NM_145754.5",
"protein_id": "NP_665697.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 838,
"cds_start": 17,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145754.5"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Ser6*",
"transcript": "ENST00000880943.1",
"protein_id": "ENSP00000551002.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 821,
"cds_start": 17,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880943.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Ser6*",
"transcript": "ENST00000880945.1",
"protein_id": "ENSP00000551004.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 812,
"cds_start": 17,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880945.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Ser6*",
"transcript": "ENST00000966083.1",
"protein_id": "ENSP00000636142.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 804,
"cds_start": 17,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966083.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Ser6*",
"transcript": "ENST00000880942.1",
"protein_id": "ENSP00000551001.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 775,
"cds_start": 17,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880942.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Ser6*",
"transcript": "ENST00000880944.1",
"protein_id": "ENSP00000551003.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 773,
"cds_start": 17,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880944.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Ser6*",
"transcript": "ENST00000966084.1",
"protein_id": "ENSP00000636143.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 771,
"cds_start": 17,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966084.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Ser6*",
"transcript": "ENST00000642354.1",
"protein_id": "ENSP00000496539.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 743,
"cds_start": 17,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642354.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Ser6*",
"transcript": "ENST00000880941.1",
"protein_id": "ENSP00000551000.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 716,
"cds_start": 17,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880941.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Ser6*",
"transcript": "ENST00000880940.1",
"protein_id": "ENSP00000550999.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 602,
"cds_start": 17,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880940.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Ser6*",
"transcript": "XM_011517362.3",
"protein_id": "XP_011515664.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 501,
"cds_start": 17,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517362.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM276",
"gene_hgnc_id": 56235,
"hgvs_c": "c.-348G>T",
"hgvs_p": null,
"transcript": "NM_001408061.1",
"protein_id": "NP_001394990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001408061.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM276",
"gene_hgnc_id": 56235,
"hgvs_c": "c.-196+360G>T",
"hgvs_p": null,
"transcript": "NM_001408060.1",
"protein_id": "NP_001394989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001408060.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM276",
"gene_hgnc_id": 56235,
"hgvs_c": "c.-196+517G>T",
"hgvs_p": null,
"transcript": "NM_001408062.1",
"protein_id": "NP_001394991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001408062.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM276",
"gene_hgnc_id": 56235,
"hgvs_c": "c.-196+360G>T",
"hgvs_p": null,
"transcript": "ENST00000880978.1",
"protein_id": "ENSP00000551037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880978.1"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.-715-25C>A",
"hgvs_p": null,
"transcript": "XM_047422405.1",
"protein_id": "XP_047278361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": null,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422405.1"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.-715-25C>A",
"hgvs_p": null,
"transcript": "XM_047422406.1",
"protein_id": "XP_047278362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": null,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422406.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "n.394C>A",
"hgvs_p": null,
"transcript": "ENST00000643461.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000643461.1"
}
],
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"dbsnp": "rs753498379",
"frequency_reference_population": 8.283e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 8.283e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5699999928474426,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.04,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.12,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_145754.5",
"gene_symbol": "KIFC2",
"hgnc_id": 29530,
"effects": [
"stop_gained"
],
"inheritance_mode": "",
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Ser6*"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001408061.1",
"gene_symbol": "TMEM276",
"hgnc_id": 56235,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-348G>T",
"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
}