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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: 19-16228898-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=16228898&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 16228898,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001130524.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M1",
"gene_hgnc_id": 13667,
"hgvs_c": "c.1017C>T",
"hgvs_p": "p.Ser339Ser",
"transcript": "NM_032493.4",
"protein_id": "NP_115882.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 423,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000291439.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032493.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M1",
"gene_hgnc_id": 13667,
"hgvs_c": "c.1017C>T",
"hgvs_p": "p.Ser339Ser",
"transcript": "ENST00000291439.8",
"protein_id": "ENSP00000291439.2",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 423,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032493.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291439.8"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M1",
"gene_hgnc_id": 13667,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Ser351Ser",
"transcript": "ENST00000444449.6",
"protein_id": "ENSP00000388996.1",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 435,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444449.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M1",
"gene_hgnc_id": 13667,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Ser351Ser",
"transcript": "ENST00000908210.1",
"protein_id": "ENSP00000578269.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 464,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908210.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M1",
"gene_hgnc_id": 13667,
"hgvs_c": "c.1017C>T",
"hgvs_p": "p.Ser339Ser",
"transcript": "ENST00000908208.1",
"protein_id": "ENSP00000578267.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 452,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908208.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M1",
"gene_hgnc_id": 13667,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Ser351Ser",
"transcript": "NM_001130524.2",
"protein_id": "NP_001123996.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 435,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130524.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M1",
"gene_hgnc_id": 13667,
"hgvs_c": "c.1011C>T",
"hgvs_p": "p.Ser337Ser",
"transcript": "ENST00000908211.1",
"protein_id": "ENSP00000578270.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 421,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908211.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M1",
"gene_hgnc_id": 13667,
"hgvs_c": "c.1011C>T",
"hgvs_p": "p.Ser337Ser",
"transcript": "ENST00000918451.1",
"protein_id": "ENSP00000588510.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 421,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918451.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M1",
"gene_hgnc_id": 13667,
"hgvs_c": "c.1005C>T",
"hgvs_p": "p.Ser335Ser",
"transcript": "ENST00000908213.1",
"protein_id": "ENSP00000578272.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 419,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908213.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M1",
"gene_hgnc_id": 13667,
"hgvs_c": "c.1017C>T",
"hgvs_p": "p.Ser339Ser",
"transcript": "ENST00000955724.1",
"protein_id": "ENSP00000625783.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 418,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955724.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M1",
"gene_hgnc_id": 13667,
"hgvs_c": "c.801C>T",
"hgvs_p": "p.Ser267Ser",
"transcript": "ENST00000590756.5",
"protein_id": "ENSP00000465224.1",
"transcript_support_level": 5,
"aa_start": 267,
"aa_end": null,
"aa_length": 351,
"cds_start": 801,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590756.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M1",
"gene_hgnc_id": 13667,
"hgvs_c": "c.792C>T",
"hgvs_p": "p.Ser264Ser",
"transcript": "ENST00000955723.1",
"protein_id": "ENSP00000625782.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 348,
"cds_start": 792,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955723.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M1",
"gene_hgnc_id": 13667,
"hgvs_c": "c.285C>T",
"hgvs_p": "p.Ser95Ser",
"transcript": "ENST00000586543.1",
"protein_id": "ENSP00000468015.1",
"transcript_support_level": 5,
"aa_start": 95,
"aa_end": null,
"aa_length": 175,
"cds_start": 285,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586543.1"
},
{
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AP1M1",
"gene_hgnc_id": 13667,
"hgvs_c": "c.924+690C>T",
"hgvs_p": null,
"transcript": "ENST00000908212.1",
"protein_id": "ENSP00000578271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": null,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908212.1"
},
{
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AP1M1",
"gene_hgnc_id": 13667,
"hgvs_c": "c.888+690C>T",
"hgvs_p": null,
"transcript": "ENST00000429941.6",
"protein_id": "ENSP00000411498.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": null,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429941.6"
},
{
"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": "AP1M1",
"gene_hgnc_id": 13667,
"hgvs_c": "c.547-4595C>T",
"hgvs_p": null,
"transcript": "ENST00000908209.1",
"protein_id": "ENSP00000578268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908209.1"
}
],
"gene_symbol": "AP1M1",
"gene_hgnc_id": 13667,
"dbsnp": "rs150468368",
"frequency_reference_population": 0.00072608684,
"hom_count_reference_population": 1,
"allele_count_reference_population": 1172,
"gnomad_exomes_af": 0.000744944,
"gnomad_genomes_af": 0.000545056,
"gnomad_exomes_ac": 1089,
"gnomad_genomes_ac": 83,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.33000001311302185,
"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": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.688,
"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": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001130524.2",
"gene_symbol": "AP1M1",
"hgnc_id": 13667,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Ser351Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}