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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: 17-34929013-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=34929013&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 34929013,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006584.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT6B",
"gene_hgnc_id": 1621,
"hgvs_c": "c.1472A>G",
"hgvs_p": "p.Asp491Gly",
"transcript": "NM_006584.4",
"protein_id": "NP_006575.2",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 530,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 1847,
"mane_select": "ENST00000314144.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006584.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT6B",
"gene_hgnc_id": 1621,
"hgvs_c": "c.1472A>G",
"hgvs_p": "p.Asp491Gly",
"transcript": "ENST00000314144.10",
"protein_id": "ENSP00000327191.5",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 530,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 1847,
"mane_select": "NM_006584.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314144.10"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT6B",
"gene_hgnc_id": 1621,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Asp454Gly",
"transcript": "ENST00000421975.7",
"protein_id": "ENSP00000398044.3",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 493,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 1680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421975.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT6B",
"gene_hgnc_id": 1621,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Asp454Gly",
"transcript": "NM_001193529.3",
"protein_id": "NP_001180458.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 493,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193529.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT6B",
"gene_hgnc_id": 1621,
"hgvs_c": "c.1337A>G",
"hgvs_p": "p.Asp446Gly",
"transcript": "NM_001193530.2",
"protein_id": "NP_001180459.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 485,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193530.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT6B",
"gene_hgnc_id": 1621,
"hgvs_c": "c.1337A>G",
"hgvs_p": "p.Asp446Gly",
"transcript": "ENST00000436961.7",
"protein_id": "ENSP00000400917.3",
"transcript_support_level": 2,
"aa_start": 446,
"aa_end": null,
"aa_length": 485,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436961.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT6B",
"gene_hgnc_id": 1621,
"hgvs_c": "c.1226A>G",
"hgvs_p": "p.Asp409Gly",
"transcript": "ENST00000885297.1",
"protein_id": "ENSP00000555356.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 448,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 1574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885297.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "CCT6B",
"gene_hgnc_id": 1621,
"hgvs_c": "c.995A>G",
"hgvs_p": "p.Asp332Gly",
"transcript": "ENST00000885298.1",
"protein_id": "ENSP00000555357.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 371,
"cds_start": 995,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 1297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885298.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT6B",
"gene_hgnc_id": 1621,
"hgvs_c": "n.3114A>G",
"hgvs_p": null,
"transcript": "ENST00000577307.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 3353,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000577307.1"
}
],
"gene_symbol": "CCT6B",
"gene_hgnc_id": 1621,
"dbsnp": "rs764176435",
"frequency_reference_population": 0.0000043504147,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000343215,
"gnomad_genomes_af": 0.0000131382,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.298597514629364,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.416,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1079,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.739,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006584.4",
"gene_symbol": "CCT6B",
"hgnc_id": 1621,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1472A>G",
"hgvs_p": "p.Asp491Gly"
}
],
"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
}