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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: 10-104037061-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=104037061&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 104037061,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000494.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.3261T>G",
"hgvs_p": "p.Ile1087Met",
"transcript": "NM_000494.4",
"protein_id": "NP_000485.3",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1497,
"cds_start": 3261,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000648076.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000494.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.3261T>G",
"hgvs_p": "p.Ile1087Met",
"transcript": "ENST00000648076.2",
"protein_id": "ENSP00000497653.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1497,
"cds_start": 3261,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000494.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648076.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.3261T>G",
"hgvs_p": "p.Ile1087Met",
"transcript": "ENST00000859462.1",
"protein_id": "ENSP00000529521.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1497,
"cds_start": 3261,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859462.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.3258T>G",
"hgvs_p": "p.Ile1086Met",
"transcript": "ENST00000859464.1",
"protein_id": "ENSP00000529523.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1496,
"cds_start": 3258,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859464.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.3249T>G",
"hgvs_p": "p.Ile1083Met",
"transcript": "ENST00000859463.1",
"protein_id": "ENSP00000529522.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1493,
"cds_start": 3249,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859463.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.3246T>G",
"hgvs_p": "p.Ile1082Met",
"transcript": "ENST00000859466.1",
"protein_id": "ENSP00000529525.1",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1492,
"cds_start": 3246,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859466.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.3228T>G",
"hgvs_p": "p.Ile1076Met",
"transcript": "ENST00000859461.1",
"protein_id": "ENSP00000529520.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859461.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.3225T>G",
"hgvs_p": "p.Ile1075Met",
"transcript": "ENST00000859460.1",
"protein_id": "ENSP00000529519.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1485,
"cds_start": 3225,
"cds_end": null,
"cds_length": 4458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859460.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.3225T>G",
"hgvs_p": "p.Ile1075Met",
"transcript": "ENST00000859465.1",
"protein_id": "ENSP00000529524.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1485,
"cds_start": 3225,
"cds_end": null,
"cds_length": 4458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859465.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.3111T>G",
"hgvs_p": "p.Ile1037Met",
"transcript": "ENST00000961906.1",
"protein_id": "ENSP00000631965.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3111,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961906.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.3126T>G",
"hgvs_p": "p.Ile1042Met",
"transcript": "ENST00000369733.8",
"protein_id": "ENSP00000358748.3",
"transcript_support_level": 5,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1415,
"cds_start": 3126,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369733.8"
}
],
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"dbsnp": "rs2476958",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.87415e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3626946210861206,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.557,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1515,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.36,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000494.4",
"gene_symbol": "COL17A1",
"hgnc_id": 2194,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3261T>G",
"hgvs_p": "p.Ile1087Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}