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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: 19-10093499-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10093499&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10093499,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_031917.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Cys",
"transcript": "NM_031917.3",
"protein_id": "NP_114123.2",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 470,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000253109.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031917.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Cys",
"transcript": "ENST00000253109.5",
"protein_id": "ENSP00000253109.3",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 470,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031917.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253109.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Cys",
"transcript": "ENST00000592641.5",
"protein_id": "ENSP00000467930.1",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 470,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592641.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Cys",
"transcript": "NM_001321411.2",
"protein_id": "NP_001308340.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 470,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321411.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Cys",
"transcript": "NM_001387347.1",
"protein_id": "NP_001374276.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 470,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387347.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Cys",
"transcript": "NM_001387348.1",
"protein_id": "NP_001374277.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 470,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387348.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Cys",
"transcript": "ENST00000890998.1",
"protein_id": "ENSP00000561057.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 470,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890998.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Cys",
"transcript": "ENST00000890999.1",
"protein_id": "ENSP00000561058.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 470,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890999.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Cys",
"transcript": "ENST00000891002.1",
"protein_id": "ENSP00000561061.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 470,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891002.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Cys",
"transcript": "ENST00000930867.1",
"protein_id": "ENSP00000600926.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 470,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930867.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Cys",
"transcript": "ENST00000891000.1",
"protein_id": "ENSP00000561059.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 451,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891000.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Cys",
"transcript": "ENST00000891001.1",
"protein_id": "ENSP00000561060.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 451,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891001.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.952C>T",
"hgvs_p": "p.Arg318Cys",
"transcript": "ENST00000589181.5",
"protein_id": "ENSP00000465597.1",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 430,
"cds_start": 952,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589181.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "ENST00000891003.1",
"protein_id": "ENSP00000561062.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 368,
"cds_start": 766,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891003.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys",
"transcript": "XM_011528348.4",
"protein_id": "XP_011526650.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 537,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528348.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys",
"transcript": "XM_011528349.4",
"protein_id": "XP_011526651.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 537,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528349.4"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHFL",
"gene_hgnc_id": 25649,
"hgvs_c": "c.*1197G>A",
"hgvs_p": null,
"transcript": "ENST00000891192.1",
"protein_id": "ENSP00000561251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891192.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHFL",
"gene_hgnc_id": 25649,
"hgvs_c": "n.*247G>A",
"hgvs_p": null,
"transcript": "ENST00000585919.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000585919.5"
}
],
"gene_symbol": "ANGPTL6",
"gene_hgnc_id": 23140,
"dbsnp": "rs147149731",
"frequency_reference_population": 0.014061733,
"hom_count_reference_population": 195,
"allele_count_reference_population": 22698,
"gnomad_exomes_af": 0.0144495,
"gnomad_genomes_af": 0.0103405,
"gnomad_exomes_ac": 21123,
"gnomad_genomes_ac": 1575,
"gnomad_exomes_homalt": 184,
"gnomad_genomes_homalt": 11,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010369420051574707,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.238,
"revel_prediction": "Benign",
"alphamissense_score": 0.2413,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.952,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_031917.3",
"gene_symbol": "ANGPTL6",
"hgnc_id": 23140,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Cys"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000891192.1",
"gene_symbol": "SHFL",
"hgnc_id": 25649,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*1197G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}