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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: 5-62361328-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=62361328&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 62361328,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000407818.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.959C>T",
"hgvs_p": "p.Thr320Ile",
"transcript": "NM_001098511.3",
"protein_id": "NP_001091981.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 744,
"cds_start": 959,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 7958,
"mane_select": "ENST00000407818.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.959C>T",
"hgvs_p": "p.Thr320Ile",
"transcript": "ENST00000407818.8",
"protein_id": "ENSP00000385000.3",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 744,
"cds_start": 959,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 7958,
"mane_select": "NM_001098511.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.959C>T",
"hgvs_p": "p.Thr320Ile",
"transcript": "ENST00000401507.7",
"protein_id": "ENSP00000385622.3",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 706,
"cds_start": 959,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Thr293Ile",
"transcript": "ENST00000381103.7",
"protein_id": "ENSP00000370493.3",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 679,
"cds_start": 878,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 3360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.959C>T",
"hgvs_p": "p.Thr320Ile",
"transcript": "ENST00000514082.6",
"protein_id": "ENSP00000423542.2",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 519,
"cds_start": 959,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288643",
"gene_hgnc_id": null,
"hgvs_c": "n.64+54792C>T",
"hgvs_p": null,
"transcript": "ENST00000509663.2",
"protein_id": "ENSP00000502199.1",
"transcript_support_level": 3,
"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": 759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Thr301Ile",
"transcript": "ENST00000674632.1",
"protein_id": "ENSP00000502498.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 725,
"cds_start": 902,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 7901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Thr293Ile",
"transcript": "ENST00000674733.1",
"protein_id": "ENSP00000502097.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 717,
"cds_start": 878,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 7830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.959C>T",
"hgvs_p": "p.Thr320Ile",
"transcript": "NM_004520.5",
"protein_id": "NP_004511.2",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 706,
"cds_start": 959,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 7844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Thr301Ile",
"transcript": "NM_001243953.2",
"protein_id": "NP_001230882.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 687,
"cds_start": 902,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 7787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Thr301Ile",
"transcript": "ENST00000676271.1",
"protein_id": "ENSP00000501719.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 687,
"cds_start": 902,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 7541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.896C>T",
"hgvs_p": "p.Thr299Ile",
"transcript": "ENST00000674752.1",
"protein_id": "ENSP00000502272.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 685,
"cds_start": 896,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 2866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Thr293Ile",
"transcript": "NM_001243952.2",
"protein_id": "NP_001230881.2",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 679,
"cds_start": 878,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 8047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Thr293Ile",
"transcript": "ENST00000676413.1",
"protein_id": "ENSP00000502125.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 679,
"cds_start": 878,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 7891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Thr274Ile",
"transcript": "ENST00000506857.5",
"protein_id": "ENSP00000423772.1",
"transcript_support_level": 2,
"aa_start": 274,
"aa_end": null,
"aa_length": 660,
"cds_start": 821,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.959C>T",
"hgvs_p": "p.Thr320Ile",
"transcript": "ENST00000674916.1",
"protein_id": "ENSP00000502248.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 590,
"cds_start": 959,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 7496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Thr8Ile",
"transcript": "ENST00000512006.2",
"protein_id": "ENSP00000421041.2",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 129,
"cds_start": 23,
"cds_end": null,
"cds_length": 392,
"cdna_start": 23,
"cdna_end": null,
"cdna_length": 392,
"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": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "n.1226C>T",
"hgvs_p": null,
"transcript": "ENST00000674751.1",
"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": 8332,
"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": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "n.1226C>T",
"hgvs_p": null,
"transcript": "ENST00000676122.1",
"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": 8764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DIMT1",
"gene_hgnc_id": 30217,
"hgvs_c": "n.*183-6980G>A",
"hgvs_p": null,
"transcript": "ENST00000651114.1",
"protein_id": "ENSP00000498538.1",
"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": 3507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"dbsnp": "rs1554042050",
"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": 0.9704763889312744,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.691,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000407818.8",
"gene_symbol": "KIF2A",
"hgnc_id": 6318,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.959C>T",
"hgvs_p": "p.Thr320Ile"
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000509663.2",
"gene_symbol": "ENSG00000288643",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.64+54792C>T",
"hgvs_p": null
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000651114.1",
"gene_symbol": "DIMT1",
"hgnc_id": 30217,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*183-6980G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Complex cortical dysplasia with other brain malformations 3",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:2",
"phenotype_combined": "Complex cortical dysplasia with other brain malformations 3",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}