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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: 11-67435917-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67435917&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 67435917,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005608.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRCAP",
"gene_hgnc_id": 9667,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "NM_005608.3",
"protein_id": "NP_005599.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 206,
"cds_start": 437,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326294.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005608.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRCAP",
"gene_hgnc_id": 9667,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "ENST00000326294.4",
"protein_id": "ENSP00000325589.3",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 206,
"cds_start": 437,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005608.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326294.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO1B",
"gene_hgnc_id": 2253,
"hgvs_c": "c.*2459G>A",
"hgvs_p": null,
"transcript": "NM_020441.3",
"protein_id": "NP_065174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": null,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341356.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020441.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO1B",
"gene_hgnc_id": 2253,
"hgvs_c": "c.*2459G>A",
"hgvs_p": null,
"transcript": "ENST00000341356.10",
"protein_id": "ENSP00000340211.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": null,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020441.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341356.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO1B",
"gene_hgnc_id": 2253,
"hgvs_c": "c.*2459G>A",
"hgvs_p": null,
"transcript": "NM_001018070.3",
"protein_id": "NP_001018080.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": null,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018070.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO1B",
"gene_hgnc_id": 2253,
"hgvs_c": "n.*3191G>A",
"hgvs_p": null,
"transcript": "ENST00000616321.4",
"protein_id": "ENSP00000479949.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000616321.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO1B",
"gene_hgnc_id": 2253,
"hgvs_c": "n.*3191G>A",
"hgvs_p": null,
"transcript": "ENST00000616321.4",
"protein_id": "ENSP00000479949.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000616321.4"
}
],
"gene_symbol": "PTPRCAP",
"gene_hgnc_id": 9667,
"dbsnp": "rs141177910",
"frequency_reference_population": 0.00014942382,
"hom_count_reference_population": 0,
"allele_count_reference_population": 241,
"gnomad_exomes_af": 0.000102698,
"gnomad_genomes_af": 0.000597607,
"gnomad_exomes_ac": 150,
"gnomad_genomes_ac": 91,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006918519735336304,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.003,
"revel_prediction": "Benign",
"alphamissense_score": 0.0611,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.401,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_005608.3",
"gene_symbol": "PTPRCAP",
"hgnc_id": 9667,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_020441.3",
"gene_symbol": "CORO1B",
"hgnc_id": 2253,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*2459G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}