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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: 19-8371288-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=8371288&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 8371288,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_139314.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL4",
"gene_hgnc_id": 16039,
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269Cys",
"transcript": "NM_139314.3",
"protein_id": "NP_647475.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 406,
"cds_start": 805,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 1872,
"mane_select": "ENST00000301455.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL4",
"gene_hgnc_id": 16039,
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269Cys",
"transcript": "ENST00000301455.7",
"protein_id": "ENSP00000301455.1",
"transcript_support_level": 1,
"aa_start": 269,
"aa_end": null,
"aa_length": 406,
"cds_start": 805,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 1872,
"mane_select": "NM_139314.3",
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL4",
"gene_hgnc_id": 16039,
"hgvs_c": "n.805C>T",
"hgvs_p": null,
"transcript": "ENST00000593998.5",
"protein_id": "ENSP00000472551.1",
"transcript_support_level": 1,
"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": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL4",
"gene_hgnc_id": 16039,
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Arg231Cys",
"transcript": "NM_001039667.3",
"protein_id": "NP_001034756.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 368,
"cds_start": 691,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL4",
"gene_hgnc_id": 16039,
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Arg231Cys",
"transcript": "ENST00000393962.6",
"protein_id": "ENSP00000377534.1",
"transcript_support_level": 5,
"aa_start": 231,
"aa_end": null,
"aa_length": 368,
"cds_start": 691,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL4",
"gene_hgnc_id": 16039,
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269Cys",
"transcript": "XM_005272484.4",
"protein_id": "XP_005272541.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 424,
"cds_start": 805,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL4",
"gene_hgnc_id": 16039,
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Arg231Cys",
"transcript": "XM_005272485.4",
"protein_id": "XP_005272542.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 386,
"cds_start": 691,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 1812,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL4",
"gene_hgnc_id": 16039,
"hgvs_c": "n.*348C>T",
"hgvs_p": null,
"transcript": "ENST00000595079.5",
"protein_id": "ENSP00000473025.1",
"transcript_support_level": 2,
"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": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL4",
"gene_hgnc_id": 16039,
"hgvs_c": "n.*348C>T",
"hgvs_p": null,
"transcript": "ENST00000595079.5",
"protein_id": "ENSP00000473025.1",
"transcript_support_level": 2,
"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": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANGPTL4",
"gene_hgnc_id": 16039,
"hgvs_c": "c.352-2905C>T",
"hgvs_p": null,
"transcript": "ENST00000594875.1",
"protein_id": "ENSP00000472869.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": -4,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 531,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RAB11B-AS1",
"gene_hgnc_id": 44178,
"hgvs_c": "n.189-2748G>A",
"hgvs_p": null,
"transcript": "ENST00000830917.1",
"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": 425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANGPTL4",
"gene_hgnc_id": 16039,
"hgvs_c": "n.597-2905C>T",
"hgvs_p": null,
"transcript": "NR_104213.2",
"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": 774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL4",
"gene_hgnc_id": 16039,
"hgvs_c": "n.*26C>T",
"hgvs_p": null,
"transcript": "ENST00000594348.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL4",
"gene_hgnc_id": 16039,
"hgvs_c": "n.*58C>T",
"hgvs_p": null,
"transcript": "ENST00000597137.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ANGPTL4",
"gene_hgnc_id": 16039,
"hgvs_c": "n.*27C>T",
"hgvs_p": null,
"transcript": "ENST00000598255.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANGPTL4",
"gene_hgnc_id": 16039,
"dbsnp": "rs773121891",
"frequency_reference_population": 0.000019209487,
"hom_count_reference_population": 1,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000150516,
"gnomad_genomes_af": 0.0000591522,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7990964651107788,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.13,
"revel_prediction": "Benign",
"alphamissense_score": 0.126,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.133,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_139314.3",
"gene_symbol": "ANGPTL4",
"hgnc_id": 16039,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269Cys"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000830917.1",
"gene_symbol": "RAB11B-AS1",
"hgnc_id": 44178,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.189-2748G>A",
"hgvs_p": null
}
],
"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
}