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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: 2-238329312-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=238329312&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 238329312,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000373327.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Lys295Lys",
"transcript": "NM_015650.4",
"protein_id": "NP_056465.2",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 691,
"cds_start": 885,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 4199,
"mane_select": "ENST00000373327.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Lys295Lys",
"transcript": "ENST00000373327.5",
"protein_id": "ENSP00000362424.4",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 691,
"cds_start": 885,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 4199,
"mane_select": "NM_015650.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Lys295Lys",
"transcript": "ENST00000391993.7",
"protein_id": "ENSP00000375851.3",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 625,
"cds_start": 885,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Lys295Lys",
"transcript": "NM_001139490.1",
"protein_id": "NP_001132962.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 625,
"cds_start": 885,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Lys295Lys",
"transcript": "XM_011510944.3",
"protein_id": "XP_011509246.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 725,
"cds_start": 885,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Lys295Lys",
"transcript": "XM_017003789.2",
"protein_id": "XP_016859278.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 724,
"cds_start": 885,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Lys295Lys",
"transcript": "XM_011510945.3",
"protein_id": "XP_011509247.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 712,
"cds_start": 885,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Lys295Lys",
"transcript": "XM_011510946.3",
"protein_id": "XP_011509248.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 701,
"cds_start": 885,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 4232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Lys295Lys",
"transcript": "XM_011510948.3",
"protein_id": "XP_011509250.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 659,
"cds_start": 885,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 4106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Lys295Lys",
"transcript": "XM_006712414.3",
"protein_id": "XP_006712477.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 624,
"cds_start": 885,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Lys295Lys",
"transcript": "XM_047443898.1",
"protein_id": "XP_047299854.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 601,
"cds_start": 885,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "n.*754G>A",
"hgvs_p": null,
"transcript": "ENST00000409739.2",
"protein_id": "ENSP00000386648.2",
"transcript_support_level": 3,
"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": 1070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "n.1030G>A",
"hgvs_p": null,
"transcript": "XR_922902.3",
"protein_id": null,
"transcript_support_level": null,
"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": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "n.*754G>A",
"hgvs_p": null,
"transcript": "ENST00000409739.2",
"protein_id": "ENSP00000386648.2",
"transcript_support_level": 3,
"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": 1070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"dbsnp": "rs12464423",
"frequency_reference_population": 0.00051724655,
"hom_count_reference_population": 0,
"allele_count_reference_population": 729,
"gnomad_exomes_af": 0.000551951,
"gnomad_genomes_af": 0.000230221,
"gnomad_exomes_ac": 694,
"gnomad_genomes_ac": 35,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.06,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000373327.5",
"gene_symbol": "TRAF3IP1",
"hgnc_id": 17861,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Lys295Lys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}