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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: 7-65954181-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=65954181&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 65954181,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001284342.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VKORC1L1",
"gene_hgnc_id": 21492,
"hgvs_c": "c.412T>C",
"hgvs_p": "p.Phe138Leu",
"transcript": "NM_173517.6",
"protein_id": "NP_775788.2",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 176,
"cds_start": 412,
"cds_end": null,
"cds_length": 531,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 6087,
"mane_select": "ENST00000360768.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173517.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VKORC1L1",
"gene_hgnc_id": 21492,
"hgvs_c": "c.412T>C",
"hgvs_p": "p.Phe138Leu",
"transcript": "ENST00000360768.5",
"protein_id": "ENSP00000353998.2",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 176,
"cds_start": 412,
"cds_end": null,
"cds_length": 531,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 6087,
"mane_select": "NM_173517.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360768.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VKORC1L1",
"gene_hgnc_id": 21492,
"hgvs_c": "c.562T>C",
"hgvs_p": "p.Phe188Leu",
"transcript": "ENST00000880558.1",
"protein_id": "ENSP00000550617.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 226,
"cds_start": 562,
"cds_end": null,
"cds_length": 681,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 1218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880558.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VKORC1L1",
"gene_hgnc_id": 21492,
"hgvs_c": "c.553T>C",
"hgvs_p": "p.Phe185Leu",
"transcript": "ENST00000648187.1",
"protein_id": "ENSP00000497458.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 223,
"cds_start": 553,
"cds_end": null,
"cds_length": 672,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 6000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648187.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VKORC1L1",
"gene_hgnc_id": 21492,
"hgvs_c": "c.550T>C",
"hgvs_p": "p.Phe184Leu",
"transcript": "ENST00000880559.1",
"protein_id": "ENSP00000550618.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 222,
"cds_start": 550,
"cds_end": null,
"cds_length": 669,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880559.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VKORC1L1",
"gene_hgnc_id": 21492,
"hgvs_c": "c.478T>C",
"hgvs_p": "p.Phe160Leu",
"transcript": "ENST00000962252.1",
"protein_id": "ENSP00000632311.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 198,
"cds_start": 478,
"cds_end": null,
"cds_length": 597,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 4266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962252.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VKORC1L1",
"gene_hgnc_id": 21492,
"hgvs_c": "c.302T>C",
"hgvs_p": "p.Val101Ala",
"transcript": "NM_001284342.3",
"protein_id": "NP_001271271.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 177,
"cds_start": 302,
"cds_end": null,
"cds_length": 534,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 5977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284342.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VKORC1L1",
"gene_hgnc_id": 21492,
"hgvs_c": "c.302T>C",
"hgvs_p": "p.Val101Ala",
"transcript": "ENST00000434382.2",
"protein_id": "ENSP00000403077.2",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 177,
"cds_start": 302,
"cds_end": null,
"cds_length": 534,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 1541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434382.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VKORC1L1",
"gene_hgnc_id": 21492,
"hgvs_c": "c.412T>C",
"hgvs_p": "p.Phe138Leu",
"transcript": "ENST00000648179.1",
"protein_id": "ENSP00000497394.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 176,
"cds_start": 412,
"cds_end": null,
"cds_length": 531,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 5895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648179.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VKORC1L1",
"gene_hgnc_id": 21492,
"hgvs_c": "c.274T>C",
"hgvs_p": "p.Phe92Leu",
"transcript": "ENST00000880557.1",
"protein_id": "ENSP00000550616.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 130,
"cds_start": 274,
"cds_end": null,
"cds_length": 393,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 1025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880557.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VKORC1L1",
"gene_hgnc_id": 21492,
"hgvs_c": "c.701T>C",
"hgvs_p": "p.Val234Ala",
"transcript": "XM_047419923.1",
"protein_id": "XP_047275879.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 310,
"cds_start": 701,
"cds_end": null,
"cds_length": 933,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 6235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419923.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VKORC1L1",
"gene_hgnc_id": 21492,
"hgvs_c": "c.325T>C",
"hgvs_p": "p.Phe109Leu",
"transcript": "XM_011515831.3",
"protein_id": "XP_011514133.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 147,
"cds_start": 325,
"cds_end": null,
"cds_length": 444,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 5717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515831.3"
}
],
"gene_symbol": "VKORC1L1",
"gene_hgnc_id": 21492,
"dbsnp": "rs1490651632",
"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": 0.5694266557693481,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.424,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7403,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.722,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001284342.3",
"gene_symbol": "VKORC1L1",
"hgnc_id": 21492,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.302T>C",
"hgvs_p": "p.Val101Ala"
}
],
"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
}