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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: 15-99974409-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=99974409&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 99974409,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000268070.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS17",
"gene_hgnc_id": 17109,
"hgvs_c": "c.3281A>G",
"hgvs_p": "p.Asn1094Ser",
"transcript": "NM_139057.4",
"protein_id": "NP_620688.2",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1095,
"cds_start": 3281,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 3357,
"cdna_end": null,
"cdna_length": 6329,
"mane_select": "ENST00000268070.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS17",
"gene_hgnc_id": 17109,
"hgvs_c": "c.3281A>G",
"hgvs_p": "p.Asn1094Ser",
"transcript": "ENST00000268070.9",
"protein_id": "ENSP00000268070.4",
"transcript_support_level": 1,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1095,
"cds_start": 3281,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 3357,
"cdna_end": null,
"cdna_length": 6329,
"mane_select": "NM_139057.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS17",
"gene_hgnc_id": 17109,
"hgvs_c": "c.3362A>G",
"hgvs_p": "p.Asn1121Ser",
"transcript": "ENST00000568565.2",
"protein_id": "ENSP00000456161.2",
"transcript_support_level": 5,
"aa_start": 1121,
"aa_end": null,
"aa_length": 1122,
"cds_start": 3362,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 3362,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS17",
"gene_hgnc_id": 17109,
"hgvs_c": "c.3563A>G",
"hgvs_p": "p.Asn1188Ser",
"transcript": "XM_017021973.3",
"protein_id": "XP_016877462.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3563,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 3639,
"cdna_end": null,
"cdna_length": 6611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS17",
"gene_hgnc_id": 17109,
"hgvs_c": "c.3494A>G",
"hgvs_p": "p.Asn1165Ser",
"transcript": "XM_017021975.2",
"protein_id": "XP_016877464.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1166,
"cds_start": 3494,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 3570,
"cdna_end": null,
"cdna_length": 6542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS17",
"gene_hgnc_id": 17109,
"hgvs_c": "c.3431A>G",
"hgvs_p": "p.Asn1144Ser",
"transcript": "XM_011521312.3",
"protein_id": "XP_011519614.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3431,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 3507,
"cdna_end": null,
"cdna_length": 6479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS17",
"gene_hgnc_id": 17109,
"hgvs_c": "c.3362A>G",
"hgvs_p": "p.Asn1121Ser",
"transcript": "XM_005254872.4",
"protein_id": "XP_005254929.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 1122,
"cds_start": 3362,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 3438,
"cdna_end": null,
"cdna_length": 6410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS17",
"gene_hgnc_id": 17109,
"hgvs_c": "c.2465A>G",
"hgvs_p": "p.Asn822Ser",
"transcript": "XM_017021978.2",
"protein_id": "XP_016877467.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 823,
"cds_start": 2465,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 17739,
"cdna_end": null,
"cdna_length": 20711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS17",
"gene_hgnc_id": 17109,
"hgvs_c": "c.2243A>G",
"hgvs_p": "p.Asn748Ser",
"transcript": "XM_017021979.2",
"protein_id": "XP_016877468.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 749,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2294,
"cdna_end": null,
"cdna_length": 5266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS17",
"gene_hgnc_id": 17109,
"hgvs_c": "c.2243A>G",
"hgvs_p": "p.Asn748Ser",
"transcript": "XM_017021980.2",
"protein_id": "XP_016877469.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 749,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 6936,
"cdna_end": null,
"cdna_length": 9908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS17",
"gene_hgnc_id": 17109,
"hgvs_c": "c.1952A>G",
"hgvs_p": "p.Asn651Ser",
"transcript": "XM_017021982.2",
"protein_id": "XP_016877471.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 652,
"cds_start": 1952,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 5086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS17",
"gene_hgnc_id": 17109,
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Asn579Ser",
"transcript": "XM_017021983.2",
"protein_id": "XP_016877472.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 580,
"cds_start": 1736,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 4815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS17",
"gene_hgnc_id": 17109,
"hgvs_c": "n.389A>G",
"hgvs_p": null,
"transcript": "ENST00000557896.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259363",
"gene_hgnc_id": null,
"hgvs_c": "n.715+1676T>C",
"hgvs_p": null,
"transcript": "ENST00000743923.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259363",
"gene_hgnc_id": null,
"hgvs_c": "n.690+1676T>C",
"hgvs_p": null,
"transcript": "ENST00000743924.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAMTS17",
"gene_hgnc_id": 17109,
"dbsnp": "rs2573652",
"frequency_reference_population": 0.6674866,
"hom_count_reference_population": 362029,
"allele_count_reference_population": 1077242,
"gnomad_exomes_af": 0.664185,
"gnomad_genomes_af": 0.69921,
"gnomad_exomes_ac": 970881,
"gnomad_genomes_ac": 106361,
"gnomad_exomes_homalt": 324357,
"gnomad_genomes_homalt": 37672,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 8.221907137340168e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.089,
"revel_prediction": "Benign",
"alphamissense_score": 0.0553,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.557,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000268070.9",
"gene_symbol": "ADAMTS17",
"hgnc_id": 17109,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3281A>G",
"hgvs_p": "p.Asn1094Ser"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000743923.1",
"gene_symbol": "ENSG00000259363",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.715+1676T>C",
"hgvs_p": null
}
],
"clinvar_disease": " recessive,Weill-Marchesani 4 syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "Weill-Marchesani 4 syndrome, recessive|not provided|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}