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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: 7-151235305-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151235305&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CHPF2",
"hgnc_id": 29270,
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Asp174Gly",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_019015.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 92,
"alphamissense_prediction": null,
"alphamissense_score": 0.2095,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3232437074184418,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 772,
"aa_ref": "D",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3989,
"cdna_start": 2050,
"cds_end": null,
"cds_length": 2319,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_019015.3",
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Asp174Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000035307.7",
"protein_coding": true,
"protein_id": "NP_061888.1",
"strand": true,
"transcript": "NM_019015.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 772,
"aa_ref": "D",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3989,
"cdna_start": 2050,
"cds_end": null,
"cds_length": 2319,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000035307.7",
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Asp174Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019015.3",
"protein_coding": true,
"protein_id": "ENSP00000035307.2",
"strand": true,
"transcript": "ENST00000035307.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 764,
"aa_ref": "D",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2718,
"cdna_start": 779,
"cds_end": null,
"cds_length": 2295,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001284295.2",
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Asp166Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271224.1",
"strand": true,
"transcript": "NM_001284295.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 764,
"aa_ref": "D",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2709,
"cdna_start": 773,
"cds_end": null,
"cds_length": 2295,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000495645.5",
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Asp166Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418914.1",
"strand": true,
"transcript": "ENST00000495645.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 711,
"aa_ref": "D",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3806,
"cdna_start": 2050,
"cds_end": null,
"cds_length": 2136,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001389651.1",
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Asp174Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376580.1",
"strand": true,
"transcript": "NM_001389651.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 711,
"aa_ref": "D",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2795,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 2136,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000692651.1",
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Asp174Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509142.1",
"strand": true,
"transcript": "ENST00000692651.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 701,
"aa_ref": "D",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2529,
"cdna_start": 590,
"cds_end": null,
"cds_length": 2106,
"cds_start": 308,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001389652.1",
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"hgvs_c": "c.308A>G",
"hgvs_p": "p.Asp103Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376581.1",
"strand": true,
"transcript": "NM_001389652.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 701,
"aa_ref": "D",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2382,
"cdna_start": 584,
"cds_end": null,
"cds_length": 2106,
"cds_start": 308,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000482173.6",
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"hgvs_c": "c.308A>G",
"hgvs_p": "p.Asp103Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419769.2",
"strand": true,
"transcript": "ENST00000482173.6",
"transcript_support_level": 4
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 640,
"aa_ref": "D",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2346,
"cdna_start": 590,
"cds_end": null,
"cds_length": 1923,
"cds_start": 308,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001389653.1",
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"hgvs_c": "c.308A>G",
"hgvs_p": "p.Asp103Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376582.1",
"strand": true,
"transcript": "NM_001389653.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 339,
"aa_ref": "D",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2618,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1020,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000690577.1",
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Asp174Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509965.1",
"strand": true,
"transcript": "ENST00000690577.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1448,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000465601.2",
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"hgvs_c": "n.521A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000420204.2",
"strand": true,
"transcript": "ENST00000465601.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2433,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000689322.1",
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"hgvs_c": "n.521A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000509595.1",
"strand": true,
"transcript": "ENST00000689322.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000690444.1",
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"hgvs_c": "n.1180A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000690444.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4424,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000691224.1",
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"hgvs_c": "n.1808A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000691224.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4206,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_171547.1",
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"hgvs_c": "n.2050A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_171547.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2580,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000685322.1",
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"hgvs_c": "n.364+157A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508617.1",
"strand": true,
"transcript": "ENST00000685322.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3241,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_171548.1",
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"hgvs_c": "n.1792+1031A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_171548.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_171549.1",
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"hgvs_c": "n.333-2069A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_171549.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs573329006",
"effect": "missense_variant",
"frequency_reference_population": 0.000057006466,
"gene_hgnc_id": 29270,
"gene_symbol": "CHPF2",
"gnomad_exomes_ac": 85,
"gnomad_exomes_af": 0.0000581531,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 7,
"gnomad_genomes_af": 0.0000459945,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.563,
"pos": 151235305,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.138,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_019015.3"
}
]
}