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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: 1-103571693-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=103571693&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 103571693,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_020978.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMY2B",
"gene_hgnc_id": 478,
"hgvs_c": "c.91C>T",
"hgvs_p": "p.Leu31Leu",
"transcript": "NM_001387437.1",
"protein_id": "NP_001374366.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 511,
"cds_start": 91,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684275.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387437.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMY2B",
"gene_hgnc_id": 478,
"hgvs_c": "c.91C>T",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000684275.1",
"protein_id": "ENSP00000507176.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 511,
"cds_start": 91,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001387437.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684275.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMY2B",
"gene_hgnc_id": 478,
"hgvs_c": "c.91C>T",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000361355.8",
"protein_id": "ENSP00000354610.4",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 511,
"cds_start": 91,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361355.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMY2B",
"gene_hgnc_id": 478,
"hgvs_c": "c.91C>T",
"hgvs_p": "p.Leu31Leu",
"transcript": "NM_001386109.1",
"protein_id": "NP_001373038.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 511,
"cds_start": 91,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386109.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMY2B",
"gene_hgnc_id": 478,
"hgvs_c": "c.91C>T",
"hgvs_p": "p.Leu31Leu",
"transcript": "NM_020978.4",
"protein_id": "NP_066188.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 511,
"cds_start": 91,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020978.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMY2B",
"gene_hgnc_id": 478,
"hgvs_c": "c.91C>T",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000435302.5",
"protein_id": "ENSP00000391423.1",
"transcript_support_level": 3,
"aa_start": 31,
"aa_end": null,
"aa_length": 95,
"cds_start": 91,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435302.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMY2B",
"gene_hgnc_id": 478,
"hgvs_c": "c.91C>T",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000453959.5",
"protein_id": "ENSP00000401627.1",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 85,
"cds_start": 91,
"cds_end": null,
"cds_length": 259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453959.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMY2B",
"gene_hgnc_id": 478,
"hgvs_c": "n.91C>T",
"hgvs_p": null,
"transcript": "ENST00000477657.5",
"protein_id": "ENSP00000433347.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000477657.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMY2B",
"gene_hgnc_id": 478,
"hgvs_c": "n.3360C>T",
"hgvs_p": null,
"transcript": "ENST00000491397.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000491397.1"
}
],
"gene_symbol": "AMY2B",
"gene_hgnc_id": 478,
"dbsnp": "rs12128421",
"frequency_reference_population": 0.006911073,
"hom_count_reference_population": 62,
"allele_count_reference_population": 11140,
"gnomad_exomes_af": 0.00707225,
"gnomad_genomes_af": 0.00536589,
"gnomad_exomes_ac": 10323,
"gnomad_genomes_ac": 817,
"gnomad_exomes_homalt": 56,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.38,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_020978.4",
"gene_symbol": "AMY2B",
"hgnc_id": 478,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.91C>T",
"hgvs_p": "p.Leu31Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}