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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: 8-144429144-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144429144&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144429144,
"ref": "C",
"alt": "T",
"effect": "stop_retained_variant",
"transcript": "NM_013432.5",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"hgvs_c": "c.4136G>A",
"hgvs_p": "p.Ter1379Ter",
"transcript": "NM_013432.5",
"protein_id": "NP_038460.4",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1378,
"cds_start": 4136,
"cds_end": null,
"cds_length": 4137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409379.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013432.5"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"hgvs_c": "c.4136G>A",
"hgvs_p": "p.Ter1379Ter",
"transcript": "ENST00000409379.8",
"protein_id": "ENSP00000386239.3",
"transcript_support_level": 1,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1378,
"cds_start": 4136,
"cds_end": null,
"cds_length": 4137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013432.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409379.8"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"hgvs_c": "c.4304G>A",
"hgvs_p": "p.Ter1435Ter",
"transcript": "ENST00000932056.1",
"protein_id": "ENSP00000602115.1",
"transcript_support_level": null,
"aa_start": 1435,
"aa_end": null,
"aa_length": 1434,
"cds_start": 4304,
"cds_end": null,
"cds_length": 4305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932056.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"hgvs_c": "c.4166G>A",
"hgvs_p": "p.Ter1389Ter",
"transcript": "ENST00000971177.1",
"protein_id": "ENSP00000641236.1",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 1388,
"cds_start": 4166,
"cds_end": null,
"cds_length": 4167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971177.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"hgvs_c": "c.4133G>A",
"hgvs_p": "p.Ter1378Ter",
"transcript": "ENST00000932054.1",
"protein_id": "ENSP00000602113.1",
"transcript_support_level": null,
"aa_start": 1378,
"aa_end": null,
"aa_length": 1377,
"cds_start": 4133,
"cds_end": null,
"cds_length": 4134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932054.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"hgvs_c": "c.4103G>A",
"hgvs_p": "p.Ter1368Ter",
"transcript": "ENST00000932055.1",
"protein_id": "ENSP00000602114.1",
"transcript_support_level": null,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1367,
"cds_start": 4103,
"cds_end": null,
"cds_length": 4104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932055.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"hgvs_c": "c.4103G>A",
"hgvs_p": "p.Ter1368Ter",
"transcript": "ENST00000971178.1",
"protein_id": "ENSP00000641237.1",
"transcript_support_level": null,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1367,
"cds_start": 4103,
"cds_end": null,
"cds_length": 4104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971178.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"hgvs_c": "c.3164G>A",
"hgvs_p": "p.Ter1055Ter",
"transcript": "XM_011517048.3",
"protein_id": "XP_011515350.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1054,
"cds_start": 3164,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517048.3"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"hgvs_c": "c.3128G>A",
"hgvs_p": "p.Ter1043Ter",
"transcript": "XM_011517049.3",
"protein_id": "XP_011515351.1",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1042,
"cds_start": 3128,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517049.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.-35+216G>A",
"hgvs_p": null,
"transcript": "ENST00000909910.1",
"protein_id": "ENSP00000579969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909910.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"hgvs_c": "n.6238G>A",
"hgvs_p": null,
"transcript": "ENST00000497613.2",
"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": "ENST00000497613.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305609",
"gene_hgnc_id": null,
"hgvs_c": "n.199+1030C>T",
"hgvs_p": null,
"transcript": "ENST00000811933.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000811933.1"
}
],
"gene_symbol": "TONSL",
"gene_hgnc_id": 7801,
"dbsnp": "rs1424410004",
"frequency_reference_population": 0.000001453668,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000145367,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3400000035762787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.289,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_013432.5",
"gene_symbol": "TONSL",
"hgnc_id": 7801,
"effects": [
"stop_retained_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4136G>A",
"hgvs_p": "p.Ter1379Ter"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000909910.1",
"gene_symbol": "VPS28",
"hgnc_id": 18178,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-35+216G>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000811933.1",
"gene_symbol": "ENSG00000305609",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.199+1030C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}