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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: 21-26838047-GCG-ACA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=26838047&ref=GCG&alt=ACA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ADAMTS1",
"hgnc_id": 217,
"hgvs_c": "c.2434_2436delCGCinsTGT",
"hgvs_p": "p.Arg812Cys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_006988.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 967,
"aa_ref": "R",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5183,
"cdna_start": 2891,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2434,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006988.5",
"gene_hgnc_id": 217,
"gene_symbol": "ADAMTS1",
"hgvs_c": "c.2434_2436delCGCinsTGT",
"hgvs_p": "p.Arg812Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000284984.8",
"protein_coding": true,
"protein_id": "NP_008919.3",
"strand": false,
"transcript": "NM_006988.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 967,
"aa_ref": "R",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5183,
"cdna_start": 2891,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2434,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000284984.8",
"gene_hgnc_id": 217,
"gene_symbol": "ADAMTS1",
"hgvs_c": "c.2434_2436delCGCinsTGT",
"hgvs_p": "p.Arg812Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006988.5",
"protein_coding": true,
"protein_id": "ENSP00000284984.2",
"strand": false,
"transcript": "ENST00000284984.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 968,
"aa_ref": "R",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4652,
"cdna_start": 2894,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2437,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945454.1",
"gene_hgnc_id": 217,
"gene_symbol": "ADAMTS1",
"hgvs_c": "c.2437_2439delCGCinsTGT",
"hgvs_p": "p.Arg813Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615513.1",
"strand": false,
"transcript": "ENST00000945454.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 911,
"aa_ref": "R",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4975,
"cdna_start": 2723,
"cds_end": null,
"cds_length": 2736,
"cds_start": 2266,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676955.1",
"gene_hgnc_id": 217,
"gene_symbol": "ADAMTS1",
"hgvs_c": "c.2266_2268delCGCinsTGT",
"hgvs_p": "p.Arg756Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503982.1",
"strand": false,
"transcript": "ENST00000676955.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 729,
"aa_ref": "R",
"aa_start": 574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3502,
"cdna_start": 1742,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1720,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679152.1",
"gene_hgnc_id": 217,
"gene_symbol": "ADAMTS1",
"hgvs_c": "c.1720_1722delCGCinsTGT",
"hgvs_p": "p.Arg574Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504463.1",
"strand": false,
"transcript": "ENST00000679152.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 705,
"aa_ref": "R",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3541,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1648,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000451462.6",
"gene_hgnc_id": 217,
"gene_symbol": "ADAMTS1",
"hgvs_c": "c.1648_1650delCGCinsTGT",
"hgvs_p": "p.Arg550Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403404.2",
"strand": false,
"transcript": "ENST00000451462.6",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 705,
"aa_ref": "R",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4180,
"cdna_start": 1928,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1648,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000517777.6",
"gene_hgnc_id": 217,
"gene_symbol": "ADAMTS1",
"hgvs_c": "c.1648_1650delCGCinsTGT",
"hgvs_p": "p.Arg550Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429557.2",
"strand": false,
"transcript": "ENST00000517777.6",
"transcript_support_level": 4
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 705,
"aa_ref": "R",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4042,
"cdna_start": 1790,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1648,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000678221.1",
"gene_hgnc_id": 217,
"gene_symbol": "ADAMTS1",
"hgvs_c": "c.1648_1650delCGCinsTGT",
"hgvs_p": "p.Arg550Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503862.1",
"strand": false,
"transcript": "ENST00000678221.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4718,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000464589.1",
"gene_hgnc_id": 217,
"gene_symbol": "ADAMTS1",
"hgvs_c": "n.2956_2958delCGCinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000464589.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5105,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000677958.1",
"gene_hgnc_id": 217,
"gene_symbol": "ADAMTS1",
"hgvs_c": "n.*674_*676delCGCinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503777.1",
"strand": false,
"transcript": "ENST00000677958.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5814,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000679316.1",
"gene_hgnc_id": 217,
"gene_symbol": "ADAMTS1",
"hgvs_c": "n.4075_4077delCGCinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000679316.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5105,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000677958.1",
"gene_hgnc_id": 217,
"gene_symbol": "ADAMTS1",
"hgvs_c": "n.*674_*676delCGCinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503777.1",
"strand": false,
"transcript": "ENST00000677958.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1153,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000492656.1",
"gene_hgnc_id": 217,
"gene_symbol": "ADAMTS1",
"hgvs_c": "n.*44_*46delCGCinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000492656.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 217,
"gene_symbol": "ADAMTS1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 3.944,
"pos": 26838047,
"ref": "GCG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_006988.5"
}
]
}