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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: 11-62129782-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62129782&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62129782,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001040694.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.255G>T",
"hgvs_p": "p.Arg85Ser",
"transcript": "NM_001040694.2",
"protein_id": "NP_001035784.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 918,
"cds_start": 255,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394818.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040694.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.255G>T",
"hgvs_p": "p.Arg85Ser",
"transcript": "ENST00000394818.8",
"protein_id": "ENSP00000378295.3",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 918,
"cds_start": 255,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040694.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394818.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "n.419G>T",
"hgvs_p": null,
"transcript": "ENST00000528037.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000528037.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.255G>T",
"hgvs_p": "p.Arg85Ser",
"transcript": "ENST00000887855.1",
"protein_id": "ENSP00000557914.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 925,
"cds_start": 255,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887855.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.255G>T",
"hgvs_p": "p.Arg85Ser",
"transcript": "ENST00000887854.1",
"protein_id": "ENSP00000557913.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 918,
"cds_start": 255,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887854.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.255G>T",
"hgvs_p": "p.Arg85Ser",
"transcript": "ENST00000922527.1",
"protein_id": "ENSP00000592586.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 917,
"cds_start": 255,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922527.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.255G>T",
"hgvs_p": "p.Arg85Ser",
"transcript": "NM_020238.3",
"protein_id": "NP_064623.2",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 914,
"cds_start": 255,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020238.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.255G>T",
"hgvs_p": "p.Arg85Ser",
"transcript": "ENST00000278849.5",
"protein_id": "ENSP00000278849.4",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 914,
"cds_start": 255,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278849.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.255G>T",
"hgvs_p": "p.Arg85Ser",
"transcript": "ENST00000887856.1",
"protein_id": "ENSP00000557915.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 914,
"cds_start": 255,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887856.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.255G>T",
"hgvs_p": "p.Arg85Ser",
"transcript": "ENST00000533896.5",
"protein_id": "ENSP00000433100.1",
"transcript_support_level": 4,
"aa_start": 85,
"aa_end": null,
"aa_length": 166,
"cds_start": 255,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533896.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.255G>T",
"hgvs_p": "p.Arg85Ser",
"transcript": "XM_011544995.4",
"protein_id": "XP_011543297.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 933,
"cds_start": 255,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544995.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.255G>T",
"hgvs_p": "p.Arg85Ser",
"transcript": "XM_011544996.4",
"protein_id": "XP_011543298.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 929,
"cds_start": 255,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544996.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.255G>T",
"hgvs_p": "p.Arg85Ser",
"transcript": "XM_011544997.3",
"protein_id": "XP_011543299.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 929,
"cds_start": 255,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544997.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.255G>T",
"hgvs_p": "p.Arg85Ser",
"transcript": "XM_011544998.4",
"protein_id": "XP_011543300.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 925,
"cds_start": 255,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544998.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.255G>T",
"hgvs_p": "p.Arg85Ser",
"transcript": "XM_006718533.4",
"protein_id": "XP_006718596.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 922,
"cds_start": 255,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718533.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.255G>T",
"hgvs_p": "p.Arg85Ser",
"transcript": "XM_047426886.1",
"protein_id": "XP_047282842.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 918,
"cds_start": 255,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426886.1"
}
],
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"dbsnp": "rs769445442",
"frequency_reference_population": 0.000011861122,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000110361,
"gnomad_genomes_af": 0.0000197254,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11568877100944519,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7440000176429749,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.179,
"revel_prediction": "Benign",
"alphamissense_score": 0.8327,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.796,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.24,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.960395432972188,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3,BS2_Supporting",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001040694.2",
"gene_symbol": "INCENP",
"hgnc_id": 6058,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.255G>T",
"hgvs_p": "p.Arg85Ser"
}
],
"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
}