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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: 8-27872050-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=27872050&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 27872050,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_173833.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA5",
"gene_hgnc_id": 28701,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Asp458Asn",
"transcript": "NM_173833.6",
"protein_id": "NP_776194.2",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 495,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354914.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173833.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA5",
"gene_hgnc_id": 28701,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Asp458Asn",
"transcript": "ENST00000354914.8",
"protein_id": "ENSP00000346990.3",
"transcript_support_level": 2,
"aa_start": 458,
"aa_end": null,
"aa_length": 495,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173833.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354914.8"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SCARA5",
"gene_hgnc_id": 28701,
"hgvs_c": "c.697G>A",
"hgvs_p": "p.Asp233Asn",
"transcript": "ENST00000380385.6",
"protein_id": "ENSP00000369746.2",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 270,
"cds_start": 697,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380385.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA5",
"gene_hgnc_id": 28701,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Asp458Asn",
"transcript": "ENST00000881549.1",
"protein_id": "ENSP00000551608.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 495,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881549.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA5",
"gene_hgnc_id": 28701,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Asp458Asn",
"transcript": "ENST00000970495.1",
"protein_id": "ENSP00000640554.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 495,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970495.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SCARA5",
"gene_hgnc_id": 28701,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Asp439Asn",
"transcript": "ENST00000881551.1",
"protein_id": "ENSP00000551610.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 476,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881551.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SCARA5",
"gene_hgnc_id": 28701,
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Asp431Asn",
"transcript": "ENST00000881550.1",
"protein_id": "ENSP00000551609.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 468,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881550.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SCARA5",
"gene_hgnc_id": 28701,
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Asp415Asn",
"transcript": "NM_001413201.1",
"protein_id": "NP_001400130.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 452,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413201.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SCARA5",
"gene_hgnc_id": 28701,
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Asp415Asn",
"transcript": "ENST00000881547.1",
"protein_id": "ENSP00000551606.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 452,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881547.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA5",
"gene_hgnc_id": 28701,
"hgvs_c": "c.1192G>A",
"hgvs_p": "p.Asp398Asn",
"transcript": "ENST00000970496.1",
"protein_id": "ENSP00000640555.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 435,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970496.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SCARA5",
"gene_hgnc_id": 28701,
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Asp392Asn",
"transcript": "ENST00000881548.1",
"protein_id": "ENSP00000551607.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 429,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881548.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SCARA5",
"gene_hgnc_id": 28701,
"hgvs_c": "c.568G>A",
"hgvs_p": "p.Asp190Asn",
"transcript": "NM_001413203.1",
"protein_id": "NP_001400132.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 227,
"cds_start": 568,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413203.1"
}
],
"gene_symbol": "SCARA5",
"gene_hgnc_id": 28701,
"dbsnp": "rs773976441",
"frequency_reference_population": 0.0000018586094,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": 0.00000656901,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9231706857681274,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.392,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9227,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.882,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_173833.6",
"gene_symbol": "SCARA5",
"hgnc_id": 28701,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Asp458Asn"
}
],
"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
}