← Back to variant description
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: 9-92502585-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=92502585&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 92502585,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000344604.10",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM2",
"gene_hgnc_id": 3154,
"hgvs_c": "c.1532T>C",
"hgvs_p": "p.Ile511Thr",
"transcript": "NM_001393.4",
"protein_id": "NP_001384.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 699,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": "ENST00000344604.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM2",
"gene_hgnc_id": 3154,
"hgvs_c": "c.1532T>C",
"hgvs_p": "p.Ile511Thr",
"transcript": "ENST00000344604.10",
"protein_id": "ENSP00000344758.5",
"transcript_support_level": 1,
"aa_start": 511,
"aa_end": null,
"aa_length": 699,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": "NM_001393.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM2",
"gene_hgnc_id": 3154,
"hgvs_c": "c.1466T>C",
"hgvs_p": "p.Ile489Thr",
"transcript": "ENST00000444490.6",
"protein_id": "ENSP00000393971.2",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 643,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1653,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CENPP",
"gene_hgnc_id": 32933,
"hgvs_c": "c.565-108729A>G",
"hgvs_p": null,
"transcript": "NM_001012267.3",
"protein_id": "NP_001012267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8293,
"mane_select": "ENST00000375587.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CENPP",
"gene_hgnc_id": 32933,
"hgvs_c": "c.565-108729A>G",
"hgvs_p": null,
"transcript": "ENST00000375587.8",
"protein_id": "ENSP00000364737.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8293,
"mane_select": "NM_001012267.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM2",
"gene_hgnc_id": 3154,
"hgvs_c": "c.1466T>C",
"hgvs_p": "p.Ile489Thr",
"transcript": "NM_001197295.2",
"protein_id": "NP_001184224.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 677,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM2",
"gene_hgnc_id": 3154,
"hgvs_c": "c.1466T>C",
"hgvs_p": "p.Ile489Thr",
"transcript": "NM_001197296.2",
"protein_id": "NP_001184225.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 643,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM2",
"gene_hgnc_id": 3154,
"hgvs_c": "c.1532T>C",
"hgvs_p": "p.Ile511Thr",
"transcript": "XM_024447435.2",
"protein_id": "XP_024303203.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 699,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 3281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM2",
"gene_hgnc_id": 3154,
"hgvs_c": "c.1532T>C",
"hgvs_p": "p.Ile511Thr",
"transcript": "XM_024447436.2",
"protein_id": "XP_024303204.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 699,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM2",
"gene_hgnc_id": 3154,
"hgvs_c": "c.1532T>C",
"hgvs_p": "p.Ile511Thr",
"transcript": "XM_047422899.1",
"protein_id": "XP_047278855.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 699,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CENPP",
"gene_hgnc_id": 32933,
"hgvs_c": "c.229-108729A>G",
"hgvs_p": null,
"transcript": "NM_001286969.1",
"protein_id": "NP_001273898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": -4,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CENPP",
"gene_hgnc_id": 32933,
"hgvs_c": "c.289-108729A>G",
"hgvs_p": null,
"transcript": "XM_024447543.2",
"protein_id": "XP_024303311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ECM2",
"gene_hgnc_id": 3154,
"dbsnp": null,
"frequency_reference_population": 6.854169e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85417e-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": 0.8719836473464966,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.47,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7146,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.795,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"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": "ENST00000344604.10",
"gene_symbol": "ECM2",
"hgnc_id": 3154,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1532T>C",
"hgvs_p": "p.Ile511Thr"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000375587.8",
"gene_symbol": "CENPP",
"hgnc_id": 32933,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.565-108729A>G",
"hgvs_p": null
}
],
"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
}