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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: 19-50980448-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50980448&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50980448,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_005046.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK7",
"gene_hgnc_id": 6368,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Asp87Asp",
"transcript": "NM_005046.4",
"protein_id": "NP_005037.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 253,
"cds_start": 261,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000595820.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005046.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK7",
"gene_hgnc_id": 6368,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Asp87Asp",
"transcript": "ENST00000595820.6",
"protein_id": "ENSP00000470538.1",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 253,
"cds_start": 261,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005046.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595820.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK7",
"gene_hgnc_id": 6368,
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Asp15Asp",
"transcript": "ENST00000597707.5",
"protein_id": "ENSP00000469950.1",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 181,
"cds_start": 45,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597707.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK7",
"gene_hgnc_id": 6368,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Asp87Asp",
"transcript": "NM_139277.2",
"protein_id": "NP_644806.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 253,
"cds_start": 261,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139277.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK7",
"gene_hgnc_id": 6368,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Asp87Asp",
"transcript": "ENST00000391807.5",
"protein_id": "ENSP00000375683.1",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 253,
"cds_start": 261,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391807.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK7",
"gene_hgnc_id": 6368,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Asp87Asp",
"transcript": "ENST00000900087.1",
"protein_id": "ENSP00000570146.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 253,
"cds_start": 261,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900087.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK7",
"gene_hgnc_id": 6368,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Asp87Asp",
"transcript": "ENST00000900088.1",
"protein_id": "ENSP00000570147.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 253,
"cds_start": 261,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900088.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK7",
"gene_hgnc_id": 6368,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Asp87Asp",
"transcript": "ENST00000900089.1",
"protein_id": "ENSP00000570148.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 253,
"cds_start": 261,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900089.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK7",
"gene_hgnc_id": 6368,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Asp87Asp",
"transcript": "ENST00000900090.1",
"protein_id": "ENSP00000570149.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 253,
"cds_start": 261,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900090.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK7",
"gene_hgnc_id": 6368,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Asp87Asp",
"transcript": "ENST00000900091.1",
"protein_id": "ENSP00000570150.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 253,
"cds_start": 261,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900091.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK7",
"gene_hgnc_id": 6368,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Asp87Asp",
"transcript": "ENST00000900092.1",
"protein_id": "ENSP00000570151.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 253,
"cds_start": 261,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900092.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK7",
"gene_hgnc_id": 6368,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Asp80Asp",
"transcript": "NM_001243126.1",
"protein_id": "NP_001230055.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 246,
"cds_start": 240,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243126.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK7",
"gene_hgnc_id": 6368,
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Asp15Asp",
"transcript": "NM_001207053.2",
"protein_id": "NP_001193982.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 181,
"cds_start": 45,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001207053.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK7",
"gene_hgnc_id": 6368,
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Asp15Asp",
"transcript": "ENST00000593904.1",
"protein_id": "ENSP00000470084.1",
"transcript_support_level": 4,
"aa_start": 15,
"aa_end": null,
"aa_length": 68,
"cds_start": 45,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593904.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK7",
"gene_hgnc_id": 6368,
"hgvs_c": "n.113C>T",
"hgvs_p": null,
"transcript": "ENST00000304045.6",
"protein_id": "ENSP00000304791.2",
"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": "ENST00000304045.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267879",
"gene_hgnc_id": null,
"hgvs_c": "n.297+7115G>A",
"hgvs_p": null,
"transcript": "ENST00000594512.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000594512.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267879",
"gene_hgnc_id": null,
"hgvs_c": "n.315-7008G>A",
"hgvs_p": null,
"transcript": "ENST00000671133.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000671133.1"
}
],
"gene_symbol": "KLK7",
"gene_hgnc_id": 6368,
"dbsnp": "rs143034119",
"frequency_reference_population": 0.000003420431,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342043,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.7469,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.907,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_005046.4",
"gene_symbol": "KLK7",
"hgnc_id": 6368,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Asp87Asp"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000594512.1",
"gene_symbol": "ENSG00000267879",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.297+7115G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}