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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: 7-7637065-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=7637065&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 7637065,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002947.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA3",
"gene_hgnc_id": 10291,
"hgvs_c": "c.301G>C",
"hgvs_p": "p.Glu101Gln",
"transcript": "NM_002947.5",
"protein_id": "NP_002938.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 121,
"cds_start": 301,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000223129.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002947.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA3",
"gene_hgnc_id": 10291,
"hgvs_c": "c.301G>C",
"hgvs_p": "p.Glu101Gln",
"transcript": "ENST00000223129.8",
"protein_id": "ENSP00000223129.4",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 121,
"cds_start": 301,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002947.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223129.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA3",
"gene_hgnc_id": 10291,
"hgvs_c": "c.313G>C",
"hgvs_p": "p.Glu105Gln",
"transcript": "ENST00000853924.1",
"protein_id": "ENSP00000523983.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 125,
"cds_start": 313,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853924.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA3",
"gene_hgnc_id": 10291,
"hgvs_c": "c.301G>C",
"hgvs_p": "p.Glu101Gln",
"transcript": "ENST00000396682.6",
"protein_id": "ENSP00000379914.2",
"transcript_support_level": 3,
"aa_start": 101,
"aa_end": null,
"aa_length": 121,
"cds_start": 301,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396682.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA3",
"gene_hgnc_id": 10291,
"hgvs_c": "c.301G>C",
"hgvs_p": "p.Glu101Gln",
"transcript": "ENST00000935607.1",
"protein_id": "ENSP00000605666.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 121,
"cds_start": 301,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935607.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA3",
"gene_hgnc_id": 10291,
"hgvs_c": "c.226G>C",
"hgvs_p": "p.Glu76Gln",
"transcript": "ENST00000853923.1",
"protein_id": "ENSP00000523982.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 96,
"cds_start": 226,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853923.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA3",
"gene_hgnc_id": 10291,
"hgvs_c": "c.184G>C",
"hgvs_p": "p.Glu62Gln",
"transcript": "ENST00000401447.1",
"protein_id": "ENSP00000385383.1",
"transcript_support_level": 3,
"aa_start": 62,
"aa_end": null,
"aa_length": 82,
"cds_start": 184,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401447.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA3",
"gene_hgnc_id": 10291,
"hgvs_c": "c.184G>C",
"hgvs_p": "p.Glu62Gln",
"transcript": "ENST00000406109.5",
"protein_id": "ENSP00000384652.1",
"transcript_support_level": 3,
"aa_start": 62,
"aa_end": null,
"aa_length": 82,
"cds_start": 184,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406109.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA3",
"gene_hgnc_id": 10291,
"hgvs_c": "n.561G>C",
"hgvs_p": null,
"transcript": "ENST00000483031.1",
"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": "ENST00000483031.1"
}
],
"gene_symbol": "RPA3",
"gene_hgnc_id": 10291,
"dbsnp": "rs374652446",
"frequency_reference_population": 0.000013140777,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131408,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6250603199005127,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.247,
"revel_prediction": "Benign",
"alphamissense_score": 0.242,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.16,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002947.5",
"gene_symbol": "RPA3",
"hgnc_id": 10291,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.301G>C",
"hgvs_p": "p.Glu101Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}