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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: 16-1979497-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1979497&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1979497,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_172168.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"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": "NOXO1",
"gene_hgnc_id": 19404,
"hgvs_c": "c.746A>T",
"hgvs_p": "p.Asp249Val",
"transcript": "NM_172167.3",
"protein_id": "NP_751907.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 371,
"cds_start": 746,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356120.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172167.3"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"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": "NOXO1",
"gene_hgnc_id": 19404,
"hgvs_c": "c.746A>T",
"hgvs_p": "p.Asp249Val",
"transcript": "ENST00000356120.9",
"protein_id": "ENSP00000348435.4",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 371,
"cds_start": 746,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_172167.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356120.9"
},
{
"aa_ref": "D",
"aa_alt": "V",
"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": "NOXO1",
"gene_hgnc_id": 19404,
"hgvs_c": "c.761A>T",
"hgvs_p": "p.Asp254Val",
"transcript": "ENST00000397280.8",
"protein_id": "ENSP00000380450.4",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 376,
"cds_start": 761,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397280.8"
},
{
"aa_ref": "D",
"aa_alt": "V",
"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": "NOXO1",
"gene_hgnc_id": 19404,
"hgvs_c": "c.758A>T",
"hgvs_p": "p.Asp253Val",
"transcript": "ENST00000566005.5",
"protein_id": "ENSP00000456800.1",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 375,
"cds_start": 758,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566005.5"
},
{
"aa_ref": "D",
"aa_alt": "V",
"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": "NOXO1",
"gene_hgnc_id": 19404,
"hgvs_c": "c.743A>T",
"hgvs_p": "p.Asp248Val",
"transcript": "ENST00000354249.8",
"protein_id": "ENSP00000346195.4",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 370,
"cds_start": 743,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354249.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL3",
"gene_hgnc_id": 11587,
"hgvs_c": "c.*812T>A",
"hgvs_p": null,
"transcript": "NM_006453.3",
"protein_id": "NP_006444.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 808,
"cds_start": null,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000568546.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006453.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL3",
"gene_hgnc_id": 11587,
"hgvs_c": "c.*812T>A",
"hgvs_p": null,
"transcript": "ENST00000568546.6",
"protein_id": "ENSP00000454836.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 808,
"cds_start": null,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006453.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568546.6"
},
{
"aa_ref": "D",
"aa_alt": "V",
"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": "NOXO1",
"gene_hgnc_id": 19404,
"hgvs_c": "c.761A>T",
"hgvs_p": "p.Asp254Val",
"transcript": "NM_172168.3",
"protein_id": "NP_751908.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 376,
"cds_start": 761,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172168.3"
},
{
"aa_ref": "D",
"aa_alt": "V",
"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": "NOXO1",
"gene_hgnc_id": 19404,
"hgvs_c": "c.758A>T",
"hgvs_p": "p.Asp253Val",
"transcript": "NM_001267721.2",
"protein_id": "NP_001254650.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 375,
"cds_start": 758,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267721.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXO1",
"gene_hgnc_id": 19404,
"hgvs_c": "c.746A>T",
"hgvs_p": "p.Asp249Val",
"transcript": "ENST00000862126.1",
"protein_id": "ENSP00000532185.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 371,
"cds_start": 746,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862126.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXO1",
"gene_hgnc_id": 19404,
"hgvs_c": "c.746A>T",
"hgvs_p": "p.Asp249Val",
"transcript": "ENST00000862127.1",
"protein_id": "ENSP00000532186.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 371,
"cds_start": 746,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862127.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXO1",
"gene_hgnc_id": 19404,
"hgvs_c": "c.746A>T",
"hgvs_p": "p.Asp249Val",
"transcript": "ENST00000862128.1",
"protein_id": "ENSP00000532187.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 371,
"cds_start": 746,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862128.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"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": "NOXO1",
"gene_hgnc_id": 19404,
"hgvs_c": "c.743A>T",
"hgvs_p": "p.Asp248Val",
"transcript": "NM_144603.4",
"protein_id": "NP_653204.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 370,
"cds_start": 743,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144603.4"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXO1",
"gene_hgnc_id": 19404,
"hgvs_c": "c.743A>T",
"hgvs_p": "p.Asp248Val",
"transcript": "ENST00000862125.1",
"protein_id": "ENSP00000532184.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 370,
"cds_start": 743,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862125.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL3",
"gene_hgnc_id": 11587,
"hgvs_c": "c.*812T>A",
"hgvs_p": null,
"transcript": "ENST00000861852.1",
"protein_id": "ENSP00000531911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": null,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861852.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXO1",
"gene_hgnc_id": 19404,
"hgvs_c": "n.148A>T",
"hgvs_p": null,
"transcript": "ENST00000569739.1",
"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": "ENST00000569739.1"
}
],
"gene_symbol": "NOXO1",
"gene_hgnc_id": 19404,
"dbsnp": "rs200329286",
"frequency_reference_population": 0.00010981702,
"hom_count_reference_population": 0,
"allele_count_reference_population": 177,
"gnomad_exomes_af": 0.000113732,
"gnomad_genomes_af": 0.0000722762,
"gnomad_exomes_ac": 166,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.909880518913269,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.473,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6244,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.413,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_172168.3",
"gene_symbol": "NOXO1",
"hgnc_id": 19404,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.761A>T",
"hgvs_p": "p.Asp254Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006453.3",
"gene_symbol": "TBL3",
"hgnc_id": 11587,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*812T>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
}