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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: 8-143576460-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143576460&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143576460,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000449291.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPRT",
"gene_hgnc_id": 30450,
"hgvs_c": "c.994C>A",
"hgvs_p": "p.Arg332Ser",
"transcript": "NM_145201.6",
"protein_id": "NP_660202.3",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 538,
"cds_start": 994,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": "ENST00000449291.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPRT",
"gene_hgnc_id": 30450,
"hgvs_c": "c.994C>A",
"hgvs_p": "p.Arg332Ser",
"transcript": "ENST00000449291.7",
"protein_id": "ENSP00000401508.2",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 538,
"cds_start": 994,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": "NM_145201.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPRT",
"gene_hgnc_id": 30450,
"hgvs_c": "c.994C>A",
"hgvs_p": "p.Arg332Ser",
"transcript": "ENST00000426292.7",
"protein_id": "ENSP00000390949.3",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 525,
"cds_start": 994,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPRT",
"gene_hgnc_id": 30450,
"hgvs_c": "n.994C>A",
"hgvs_p": null,
"transcript": "ENST00000340490.7",
"protein_id": "ENSP00000341136.3",
"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": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPRT",
"gene_hgnc_id": 30450,
"hgvs_c": "c.994C>A",
"hgvs_p": "p.Arg332Ser",
"transcript": "NM_001286829.2",
"protein_id": "NP_001273758.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 525,
"cds_start": 994,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPRT",
"gene_hgnc_id": 30450,
"hgvs_c": "c.994C>A",
"hgvs_p": "p.Arg332Ser",
"transcript": "NM_001363145.1",
"protein_id": "NP_001350074.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 511,
"cds_start": 994,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPRT",
"gene_hgnc_id": 30450,
"hgvs_c": "c.994C>A",
"hgvs_p": "p.Arg332Ser",
"transcript": "ENST00000435154.7",
"protein_id": "ENSP00000405670.3",
"transcript_support_level": 2,
"aa_start": 332,
"aa_end": null,
"aa_length": 490,
"cds_start": 994,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPRT",
"gene_hgnc_id": 30450,
"hgvs_c": "c.310C>A",
"hgvs_p": "p.Arg104Ser",
"transcript": "NM_001363146.1",
"protein_id": "NP_001350075.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 310,
"cds_start": 310,
"cds_end": null,
"cds_length": 933,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 1566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPRT",
"gene_hgnc_id": 30450,
"hgvs_c": "c.310C>A",
"hgvs_p": "p.Arg104Ser",
"transcript": "XM_047422423.1",
"protein_id": "XP_047278379.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 389,
"cds_start": 310,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 3069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPRT",
"gene_hgnc_id": 30450,
"hgvs_c": "n.269C>A",
"hgvs_p": null,
"transcript": "ENST00000464332.5",
"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": 1212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPRT",
"gene_hgnc_id": 30450,
"hgvs_c": "n.1179C>A",
"hgvs_p": null,
"transcript": "ENST00000480946.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 1199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPRT",
"gene_hgnc_id": 30450,
"hgvs_c": "n.816C>A",
"hgvs_p": null,
"transcript": "ENST00000488096.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPRT",
"gene_hgnc_id": 30450,
"hgvs_c": "n.*287C>A",
"hgvs_p": null,
"transcript": "ENST00000525583.5",
"protein_id": "ENSP00000437102.1",
"transcript_support_level": 5,
"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": 1066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "NAPRT",
"gene_hgnc_id": 30450,
"hgvs_c": "n.*287C>A",
"hgvs_p": null,
"transcript": "ENST00000532645.1",
"protein_id": "ENSP00000433245.1",
"transcript_support_level": 5,
"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": 866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPRT",
"gene_hgnc_id": 30450,
"hgvs_c": "n.*287C>A",
"hgvs_p": null,
"transcript": "ENST00000525583.5",
"protein_id": "ENSP00000437102.1",
"transcript_support_level": 5,
"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": 1066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPRT",
"gene_hgnc_id": 30450,
"hgvs_c": "n.*287C>A",
"hgvs_p": null,
"transcript": "ENST00000532645.1",
"protein_id": "ENSP00000433245.1",
"transcript_support_level": 5,
"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": 866,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255050",
"gene_hgnc_id": null,
"hgvs_c": "n.437-201G>T",
"hgvs_p": null,
"transcript": "ENST00000531730.1",
"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": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NAPRT",
"gene_hgnc_id": 30450,
"dbsnp": "rs35975875",
"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": 0.9572187662124634,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.484,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6668,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.05,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000449291.7",
"gene_symbol": "NAPRT",
"hgnc_id": 30450,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.994C>A",
"hgvs_p": "p.Arg332Ser"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000531730.1",
"gene_symbol": "ENSG00000255050",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.437-201G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}