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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: 7-101156618-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=101156618&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 101156618,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001283.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S1",
"gene_hgnc_id": 559,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Arg10Gly",
"transcript": "NM_001283.5",
"protein_id": "NP_001274.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 158,
"cds_start": 28,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337619.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S1",
"gene_hgnc_id": 559,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Arg10Gly",
"transcript": "ENST00000337619.11",
"protein_id": "ENSP00000336666.5",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 158,
"cds_start": 28,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001283.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337619.11"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S1",
"gene_hgnc_id": 559,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "ENST00000429457.1",
"protein_id": "ENSP00000399902.1",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 189,
"cds_start": 151,
"cds_end": null,
"cds_length": 571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429457.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S1",
"gene_hgnc_id": 559,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Arg10Gly",
"transcript": "ENST00000926144.1",
"protein_id": "ENSP00000596203.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 167,
"cds_start": 28,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926144.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S1",
"gene_hgnc_id": 559,
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Arg9Gly",
"transcript": "ENST00000646560.1",
"protein_id": "ENSP00000496031.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 157,
"cds_start": 25,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646560.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S1",
"gene_hgnc_id": 559,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Arg10Gly",
"transcript": "ENST00000926140.1",
"protein_id": "ENSP00000596199.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 157,
"cds_start": 28,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926140.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S1",
"gene_hgnc_id": 559,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Arg10Gly",
"transcript": "ENST00000926141.1",
"protein_id": "ENSP00000596200.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 155,
"cds_start": 28,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926141.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S1",
"gene_hgnc_id": 559,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Arg10Gly",
"transcript": "ENST00000926143.1",
"protein_id": "ENSP00000596202.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 148,
"cds_start": 28,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926143.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S1",
"gene_hgnc_id": 559,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Arg10Gly",
"transcript": "ENST00000926142.1",
"protein_id": "ENSP00000596201.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 112,
"cds_start": 28,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926142.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AP1S1",
"gene_hgnc_id": 559,
"hgvs_c": "c.4-6C>G",
"hgvs_p": null,
"transcript": "ENST00000856013.1",
"protein_id": "ENSP00000526072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": null,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856013.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AP1S1",
"gene_hgnc_id": 559,
"hgvs_c": "c.3+2101C>G",
"hgvs_p": null,
"transcript": "ENST00000856012.1",
"protein_id": "ENSP00000526071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": null,
"cds_end": null,
"cds_length": 189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856012.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S1",
"gene_hgnc_id": 559,
"hgvs_c": "n.28C>G",
"hgvs_p": null,
"transcript": "ENST00000443943.5",
"protein_id": "ENSP00000410780.1",
"transcript_support_level": 3,
"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": "ENST00000443943.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S1",
"gene_hgnc_id": 559,
"hgvs_c": "n.*96C>G",
"hgvs_p": null,
"transcript": "ENST00000646950.1",
"protein_id": "ENSP00000496332.1",
"transcript_support_level": null,
"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": "ENST00000646950.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S1",
"gene_hgnc_id": 559,
"hgvs_c": "n.*96C>G",
"hgvs_p": null,
"transcript": "ENST00000646950.1",
"protein_id": "ENSP00000496332.1",
"transcript_support_level": null,
"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": "ENST00000646950.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S1",
"gene_hgnc_id": 559,
"hgvs_c": "n.-56C>G",
"hgvs_p": null,
"transcript": "ENST00000643104.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000643104.1"
}
],
"gene_symbol": "AP1S1",
"gene_hgnc_id": 559,
"dbsnp": "rs1255603930",
"frequency_reference_population": 6.8489396e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84894e-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": 0.8686591386795044,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.869,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9923,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.492,
"phylop100way_prediction": "Uncertain_significance",
"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": 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": "NM_001283.5",
"gene_symbol": "AP1S1",
"hgnc_id": 559,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Arg10Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}