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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: Y-1636511-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=Y&pos=1636511&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "Y",
"pos": 1636511,
"ref": "N",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000711210.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASMT",
"gene_hgnc_id": 750,
"hgvs_c": "c.861N>T",
"hgvs_p": "p.Asp287Asp",
"transcript": "ENST00000711210.1",
"protein_id": "ENSP00000518608.1",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 373,
"cds_start": 861,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASMT",
"gene_hgnc_id": 750,
"hgvs_c": "c.777N>T",
"hgvs_p": "p.Asp259Asp",
"transcript": "ENST00000711209.1",
"protein_id": "ENSP00000518607.1",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 345,
"cds_start": 777,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 1087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASMT",
"gene_hgnc_id": 750,
"hgvs_c": "c.636N>T",
"hgvs_p": "p.Asp212Asp",
"transcript": "ENST00000711208.1",
"protein_id": "ENSP00000518606.1",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 298,
"cds_start": 636,
"cds_end": null,
"cds_length": 897,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": null,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASMT_1",
"gene_hgnc_id": 750,
"hgvs_c": "c.861N>T",
"hgvs_p": "p.Asp287Asp",
"transcript": "NM_001171038.2_1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 373,
"cds_start": 861,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": null,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASMT_1",
"gene_hgnc_id": 750,
"hgvs_c": "c.777N>T",
"hgvs_p": "p.Asp259Asp",
"transcript": "NM_001416525.1_1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 345,
"cds_start": 777,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 1246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": null,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASMT_1",
"gene_hgnc_id": 750,
"hgvs_c": "c.636N>T",
"hgvs_p": "p.Asp212Asp",
"transcript": "NM_001171039.1_1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 298,
"cds_start": 636,
"cds_end": null,
"cds_length": 897,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 1031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASMT",
"gene_hgnc_id": 750,
"hgvs_c": "c.114N>T",
"hgvs_p": "p.Asp38Asp",
"transcript": "ENST00000711206.1",
"protein_id": "ENSP00000518605.1",
"transcript_support_level": 2,
"aa_start": 38,
"aa_end": null,
"aa_length": 124,
"cds_start": 114,
"cds_end": null,
"cds_length": 375,
"cdna_start": 114,
"cdna_end": null,
"cdna_length": 442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASMT",
"gene_hgnc_id": null,
"hgvs_c": "n.*48N>T",
"hgvs_p": null,
"transcript": "ENST00000711207.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASMT",
"gene_hgnc_id": 750,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": null,
"phylop100way_prediction": null,
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Likely_benign",
"acmg_criteria": "BP6",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000711210.1",
"gene_symbol": "ASMT",
"hgnc_id": 750,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.861N>T",
"hgvs_p": "p.Asp287Asp"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP6"
],
"verdict": "Likely_benign",
"transcript": "",
"gene_symbol": "ASMT_1",
"hgnc_id": 750,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.861N>T",
"hgvs_p": "p.Asp287Asp"
}
],
"clinvar_disease": null,
"clinvar_classification": null,
"clinvar_review_status": null,
"clinvar_submissions_summary": null,
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}