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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: 6-33404002-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33404002&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33404002,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002263.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC1",
"gene_hgnc_id": 6389,
"hgvs_c": "c.629G>C",
"hgvs_p": "p.Arg210Pro",
"transcript": "NM_002263.4",
"protein_id": "NP_002254.2",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 673,
"cds_start": 629,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000428849.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002263.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC1",
"gene_hgnc_id": 6389,
"hgvs_c": "c.629G>C",
"hgvs_p": "p.Arg210Pro",
"transcript": "ENST00000428849.7",
"protein_id": "ENSP00000393963.2",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 673,
"cds_start": 629,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002263.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428849.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC1",
"gene_hgnc_id": 6389,
"hgvs_c": "c.629G>C",
"hgvs_p": "p.Arg210Pro",
"transcript": "ENST00000927218.1",
"protein_id": "ENSP00000597277.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 672,
"cds_start": 629,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927218.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC1",
"gene_hgnc_id": 6389,
"hgvs_c": "c.623G>C",
"hgvs_p": "p.Arg208Pro",
"transcript": "ENST00000927219.1",
"protein_id": "ENSP00000597278.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 671,
"cds_start": 623,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927219.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC1",
"gene_hgnc_id": 6389,
"hgvs_c": "c.605G>C",
"hgvs_p": "p.Arg202Pro",
"transcript": "ENST00000927220.1",
"protein_id": "ENSP00000597279.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 665,
"cds_start": 605,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927220.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC1",
"gene_hgnc_id": 6389,
"hgvs_c": "c.629G>C",
"hgvs_p": "p.Arg210Pro",
"transcript": "ENST00000895636.1",
"protein_id": "ENSP00000565695.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 564,
"cds_start": 629,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895636.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC1",
"gene_hgnc_id": 6389,
"hgvs_c": "c.629G>C",
"hgvs_p": "p.Arg210Pro",
"transcript": "ENST00000895637.1",
"protein_id": "ENSP00000565696.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 537,
"cds_start": 629,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895637.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC1",
"gene_hgnc_id": 6389,
"hgvs_c": "c.629G>C",
"hgvs_p": "p.Arg210Pro",
"transcript": "ENST00000927221.1",
"protein_id": "ENSP00000597280.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 473,
"cds_start": 629,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927221.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC1",
"gene_hgnc_id": 6389,
"hgvs_c": "c.629G>C",
"hgvs_p": "p.Arg210Pro",
"transcript": "ENST00000927217.1",
"protein_id": "ENSP00000597276.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 413,
"cds_start": 629,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927217.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC1",
"gene_hgnc_id": 6389,
"hgvs_c": "c.629G>C",
"hgvs_p": "p.Arg210Pro",
"transcript": "XM_011514585.2",
"protein_id": "XP_011512887.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 666,
"cds_start": 629,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514585.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC1",
"gene_hgnc_id": 6389,
"hgvs_c": "c.506G>C",
"hgvs_p": "p.Arg169Pro",
"transcript": "XM_017010837.2",
"protein_id": "XP_016866326.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 632,
"cds_start": 506,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010837.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC1",
"gene_hgnc_id": 6389,
"hgvs_c": "c.629G>C",
"hgvs_p": "p.Arg210Pro",
"transcript": "XM_011514587.3",
"protein_id": "XP_011512889.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 413,
"cds_start": 629,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514587.3"
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIFC1",
"gene_hgnc_id": 6389,
"hgvs_c": "c.531+98G>C",
"hgvs_p": null,
"transcript": "ENST00000927222.1",
"protein_id": "ENSP00000597281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": null,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927222.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC1",
"gene_hgnc_id": 6389,
"hgvs_c": "c.*143G>C",
"hgvs_p": null,
"transcript": "ENST00000450504.1",
"protein_id": "ENSP00000409539.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": null,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450504.1"
},
{
"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": "KIFC1",
"gene_hgnc_id": 6389,
"hgvs_c": "n.*136G>C",
"hgvs_p": null,
"transcript": "ENST00000486695.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000486695.1"
}
],
"gene_symbol": "KIFC1",
"gene_hgnc_id": 6389,
"dbsnp": "rs773177817",
"frequency_reference_population": 0.0000223037,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000232577,
"gnomad_genomes_af": 0.0000131404,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14273589849472046,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.5011,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.015,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002263.4",
"gene_symbol": "KIFC1",
"hgnc_id": 6389,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.629G>C",
"hgvs_p": "p.Arg210Pro"
}
],
"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
}