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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: 10-73174702-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73174702&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 73174702,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_173348.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Lys21Asn",
"transcript": "NM_173348.2",
"protein_id": "NP_775483.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 582,
"cds_start": 63,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 5455,
"mane_select": "ENST00000242505.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Lys21Asn",
"transcript": "ENST00000242505.11",
"protein_id": "ENSP00000242505.6",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
"aa_length": 582,
"cds_start": 63,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 5455,
"mane_select": "NM_173348.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Lys21Asn",
"transcript": "XM_005269744.3",
"protein_id": "XP_005269801.2",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 528,
"cds_start": 63,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Lys21Asn",
"transcript": "XM_047425143.1",
"protein_id": "XP_047281099.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 451,
"cds_start": 63,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Lys21Asn",
"transcript": "XM_017016167.2",
"protein_id": "XP_016871656.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 368,
"cds_start": 63,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Lys21Asn",
"transcript": "XM_011539740.3",
"protein_id": "XP_011538042.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 345,
"cds_start": 63,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 5660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Lys21Asn",
"transcript": "XM_047425144.1",
"protein_id": "XP_047281100.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 321,
"cds_start": 63,
"cds_end": null,
"cds_length": 966,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.-2A>C",
"hgvs_p": null,
"transcript": "XM_047425142.1",
"protein_id": "XP_047281098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": -4,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"hgvs_c": "c.-2A>C",
"hgvs_p": null,
"transcript": "XM_047425145.1",
"protein_id": "XP_047281101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": -4,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FAM149B1",
"gene_hgnc_id": 29162,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13067981600761414,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": 0.319,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.667,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_173348.2",
"gene_symbol": "FAM149B1",
"hgnc_id": 29162,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Lys21Asn"
}
],
"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
}