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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: 8-144474424-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144474424&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144474424,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_003923.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXH1",
"gene_hgnc_id": 3814,
"hgvs_c": "c.912G>A",
"hgvs_p": "p.Pro304Pro",
"transcript": "NM_003923.3",
"protein_id": "NP_003914.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 365,
"cds_start": 912,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377317.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003923.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXH1",
"gene_hgnc_id": 3814,
"hgvs_c": "c.912G>A",
"hgvs_p": "p.Pro304Pro",
"transcript": "ENST00000377317.5",
"protein_id": "ENSP00000366534.4",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 365,
"cds_start": 912,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003923.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377317.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXH1",
"gene_hgnc_id": 3814,
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Pro301Pro",
"transcript": "ENST00000935088.1",
"protein_id": "ENSP00000605147.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 362,
"cds_start": 903,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935088.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXH1",
"gene_hgnc_id": 3814,
"hgvs_c": "c.900G>A",
"hgvs_p": "p.Pro300Pro",
"transcript": "ENST00000935090.1",
"protein_id": "ENSP00000605149.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 361,
"cds_start": 900,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935090.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXH1",
"gene_hgnc_id": 3814,
"hgvs_c": "c.894G>A",
"hgvs_p": "p.Pro298Pro",
"transcript": "ENST00000935087.1",
"protein_id": "ENSP00000605146.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 359,
"cds_start": 894,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935087.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXH1",
"gene_hgnc_id": 3814,
"hgvs_c": "c.807G>A",
"hgvs_p": "p.Pro269Pro",
"transcript": "ENST00000935089.1",
"protein_id": "ENSP00000605148.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 330,
"cds_start": 807,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935089.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXH1",
"gene_hgnc_id": 3814,
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Pro260Pro",
"transcript": "ENST00000935086.1",
"protein_id": "ENSP00000605145.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 321,
"cds_start": 780,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935086.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.*1035C>T",
"hgvs_p": null,
"transcript": "NM_001369769.2",
"protein_id": "NP_001356698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.*1035C>T",
"hgvs_p": null,
"transcript": "ENST00000645548.2",
"protein_id": "ENSP00000494595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.*974C>T",
"hgvs_p": null,
"transcript": "NM_145754.5",
"protein_id": "NP_665697.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 838,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.*974C>T",
"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": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "c.*974C>T",
"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": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFC2",
"gene_hgnc_id": 29530,
"hgvs_c": "n.*222C>T",
"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": "FOXH1",
"gene_hgnc_id": 3814,
"dbsnp": "rs141411287",
"frequency_reference_population": 0.00011033792,
"hom_count_reference_population": 0,
"allele_count_reference_population": 178,
"gnomad_exomes_af": 0.000113628,
"gnomad_genomes_af": 0.0000787836,
"gnomad_exomes_ac": 166,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.157,
"phylop100way_prediction": "Benign",
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_003923.3",
"gene_symbol": "FOXH1",
"hgnc_id": 3814,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.912G>A",
"hgvs_p": "p.Pro304Pro"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_145754.5",
"gene_symbol": "KIFC2",
"hgnc_id": 29530,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*974C>T",
"hgvs_p": null
}
],
"clinvar_disease": "FOXH1-related disorder,Holoprosencephaly sequence",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Holoprosencephaly sequence|FOXH1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}