← 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: 17-3476195-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=3476195&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 3476195,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_000049.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPA",
"gene_hgnc_id": 756,
"hgvs_c": "c.36A>G",
"hgvs_p": "p.Gln12Gln",
"transcript": "NM_000049.4",
"protein_id": "NP_000040.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 313,
"cds_start": 36,
"cds_end": null,
"cds_length": 942,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 5422,
"mane_select": "ENST00000263080.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPA",
"gene_hgnc_id": 756,
"hgvs_c": "c.36A>G",
"hgvs_p": "p.Gln12Gln",
"transcript": "ENST00000263080.3",
"protein_id": "ENSP00000263080.2",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 313,
"cds_start": 36,
"cds_end": null,
"cds_length": 942,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 5422,
"mane_select": "NM_000049.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPA",
"gene_hgnc_id": 756,
"hgvs_c": "c.36A>G",
"hgvs_p": "p.Gln12Gln",
"transcript": "ENST00000456349.6",
"protein_id": "ENSP00000409976.2",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 313,
"cds_start": 36,
"cds_end": null,
"cds_length": 942,
"cdna_start": 184,
"cdna_end": null,
"cdna_length": 1090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPA",
"gene_hgnc_id": 756,
"hgvs_c": "c.36A>G",
"hgvs_p": "p.Gln12Gln",
"transcript": "NM_001128085.1",
"protein_id": "NP_001121557.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 313,
"cds_start": 36,
"cds_end": null,
"cds_length": 942,
"cdna_start": 127,
"cdna_end": null,
"cdna_length": 1351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPA",
"gene_hgnc_id": 756,
"hgvs_c": "c.36A>G",
"hgvs_p": "p.Gln12Gln",
"transcript": "ENST00000577034.1",
"protein_id": "ENSP00000458324.1",
"transcript_support_level": 5,
"aa_start": 12,
"aa_end": null,
"aa_length": 77,
"cds_start": 36,
"cds_end": null,
"cds_length": 236,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPA",
"gene_hgnc_id": 756,
"hgvs_c": "c.36A>G",
"hgvs_p": "p.Gln12Gln",
"transcript": "XM_017024661.2",
"protein_id": "XP_016880150.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 313,
"cds_start": 36,
"cds_end": null,
"cds_length": 942,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 5562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPA",
"gene_hgnc_id": 756,
"hgvs_c": "n.36A>G",
"hgvs_p": null,
"transcript": "ENST00000571278.1",
"protein_id": "ENSP00000461358.1",
"transcript_support_level": 5,
"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": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPATA22",
"gene_hgnc_id": 30705,
"hgvs_c": "c.-73-6797T>C",
"hgvs_p": null,
"transcript": "NM_001321337.2",
"protein_id": "NP_001308266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": -4,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPATA22",
"gene_hgnc_id": 30705,
"hgvs_c": "c.-73-6797T>C",
"hgvs_p": null,
"transcript": "NM_001321336.2",
"protein_id": "NP_001308265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPATA22",
"gene_hgnc_id": 30705,
"hgvs_c": "c.-73-6797T>C",
"hgvs_p": null,
"transcript": "ENST00000541913.5",
"protein_id": "ENSP00000441920.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPATA22",
"gene_hgnc_id": 30705,
"hgvs_c": "c.-73-6797T>C",
"hgvs_p": null,
"transcript": "ENST00000570318.1",
"protein_id": "ENSP00000459147.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 2,
"cds_start": -4,
"cds_end": null,
"cds_length": 9,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASPA",
"gene_hgnc_id": 756,
"dbsnp": null,
"frequency_reference_population": 0.0000013682193,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136822,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"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": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.302,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_000049.4",
"gene_symbol": "ASPA",
"hgnc_id": 756,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.36A>G",
"hgvs_p": "p.Gln12Gln"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001321337.2",
"gene_symbol": "SPATA22",
"hgnc_id": 30705,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-73-6797T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Spongy degeneration of central nervous system",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Spongy degeneration of central nervous system",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}