← Back to variant description
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: 1-200974857-G-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=200974857&ref=G&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 200974857,
"ref": "G",
"alt": "GA",
"effect": "frameshift_variant",
"transcript": "NM_001252100.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.4670_4671insT",
"hgvs_p": "p.Met1559fs",
"transcript": "NM_001252102.2",
"protein_id": "NP_001239031.1",
"transcript_support_level": null,
"aa_start": 1557,
"aa_end": null,
"aa_length": 1623,
"cds_start": 4670,
"cds_end": null,
"cds_length": 4872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000461742.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252102.2"
},
{
"aa_ref": "R",
"aa_alt": "R?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.4670_4671insT",
"hgvs_p": "p.Met1559fs",
"transcript": "ENST00000461742.7",
"protein_id": "ENSP00000433808.1",
"transcript_support_level": 1,
"aa_start": 1557,
"aa_end": null,
"aa_length": 1623,
"cds_start": 4670,
"cds_end": null,
"cds_length": 4872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001252102.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461742.7"
},
{
"aa_ref": "R",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.4670_4671insT",
"hgvs_p": "p.Met1559fs",
"transcript": "ENST00000422435.2",
"protein_id": "ENSP00000411831.2",
"transcript_support_level": 1,
"aa_start": 1557,
"aa_end": null,
"aa_length": 1637,
"cds_start": 4670,
"cds_end": null,
"cds_length": 4914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422435.2"
},
{
"aa_ref": "R",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.4631_4632insT",
"hgvs_p": "p.Met1546fs",
"transcript": "ENST00000332129.6",
"protein_id": "ENSP00000328494.2",
"transcript_support_level": 1,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1624,
"cds_start": 4631,
"cds_end": null,
"cds_length": 4875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332129.6"
},
{
"aa_ref": "R",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.4631_4632insT",
"hgvs_p": "p.Met1546fs",
"transcript": "ENST00000360529.9",
"protein_id": "ENSP00000353724.5",
"transcript_support_level": 1,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1610,
"cds_start": 4631,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360529.9"
},
{
"aa_ref": "R",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.4670_4671insT",
"hgvs_p": "p.Met1559fs",
"transcript": "NM_001252100.2",
"protein_id": "NP_001239029.1",
"transcript_support_level": null,
"aa_start": 1557,
"aa_end": null,
"aa_length": 1637,
"cds_start": 4670,
"cds_end": null,
"cds_length": 4914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252100.2"
},
{
"aa_ref": "R",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.4631_4632insT",
"hgvs_p": "p.Met1546fs",
"transcript": "NM_017596.4",
"protein_id": "NP_060066.2",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1624,
"cds_start": 4631,
"cds_end": null,
"cds_length": 4875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017596.4"
},
{
"aa_ref": "R",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.4631_4632insT",
"hgvs_p": "p.Met1546fs",
"transcript": "NM_001252103.2",
"protein_id": "NP_001239032.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1610,
"cds_start": 4631,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252103.2"
},
{
"aa_ref": "R",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.4502_4503insT",
"hgvs_p": "p.Met1503fs",
"transcript": "XM_017000731.2",
"protein_id": "XP_016856220.1",
"transcript_support_level": null,
"aa_start": 1501,
"aa_end": null,
"aa_length": 1581,
"cds_start": 4502,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000731.2"
},
{
"aa_ref": "R",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.3467_3468insT",
"hgvs_p": "p.Met1158fs",
"transcript": "XM_017000732.2",
"protein_id": "XP_016856221.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3467,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000732.2"
},
{
"aa_ref": "R",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.2951_2952insT",
"hgvs_p": "p.Met986fs",
"transcript": "XM_047449818.1",
"protein_id": "XP_047305774.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449818.1"
}
],
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.17000000178813934,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.023,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.17,
"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_001252100.2",
"gene_symbol": "KIF21B",
"hgnc_id": 29442,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4670_4671insT",
"hgvs_p": "p.Met1559fs"
}
],
"clinvar_disease": "Neurodevelopmental disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Neurodevelopmental disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}