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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: 19-16228809-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=16228809&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 16228809,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001130524.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.928G>A",
"hgvs_p": "p.Val310Met",
"transcript": "NM_032493.4",
"protein_id": "NP_115882.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 423,
"cds_start": 928,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 12859,
"mane_select": "ENST00000291439.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032493.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.928G>A",
"hgvs_p": "p.Val310Met",
"transcript": "ENST00000291439.8",
"protein_id": "ENSP00000291439.2",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 423,
"cds_start": 928,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 12859,
"mane_select": "NM_032493.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291439.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.964G>A",
"hgvs_p": "p.Val322Met",
"transcript": "ENST00000444449.6",
"protein_id": "ENSP00000388996.1",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 435,
"cds_start": 964,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 2311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444449.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.964G>A",
"hgvs_p": "p.Val322Met",
"transcript": "ENST00000908210.1",
"protein_id": "ENSP00000578269.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 464,
"cds_start": 964,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908210.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.928G>A",
"hgvs_p": "p.Val310Met",
"transcript": "ENST00000908208.1",
"protein_id": "ENSP00000578267.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 452,
"cds_start": 928,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908208.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.964G>A",
"hgvs_p": "p.Val322Met",
"transcript": "NM_001130524.2",
"protein_id": "NP_001123996.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 435,
"cds_start": 964,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 12895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130524.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.922G>A",
"hgvs_p": "p.Val308Met",
"transcript": "ENST00000908211.1",
"protein_id": "ENSP00000578270.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 421,
"cds_start": 922,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908211.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.922G>A",
"hgvs_p": "p.Val308Met",
"transcript": "ENST00000918451.1",
"protein_id": "ENSP00000588510.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 421,
"cds_start": 922,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918451.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.916G>A",
"hgvs_p": "p.Val306Met",
"transcript": "ENST00000908213.1",
"protein_id": "ENSP00000578272.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 419,
"cds_start": 916,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908213.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.928G>A",
"hgvs_p": "p.Val310Met",
"transcript": "ENST00000955724.1",
"protein_id": "ENSP00000625783.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 418,
"cds_start": 928,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955724.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.712G>A",
"hgvs_p": "p.Val238Met",
"transcript": "ENST00000590756.5",
"protein_id": "ENSP00000465224.1",
"transcript_support_level": 5,
"aa_start": 238,
"aa_end": null,
"aa_length": 351,
"cds_start": 712,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590756.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.703G>A",
"hgvs_p": "p.Val235Met",
"transcript": "ENST00000955723.1",
"protein_id": "ENSP00000625782.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 348,
"cds_start": 703,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 2076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955723.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.196G>A",
"hgvs_p": "p.Val66Met",
"transcript": "ENST00000586543.1",
"protein_id": "ENSP00000468015.1",
"transcript_support_level": 5,
"aa_start": 66,
"aa_end": null,
"aa_length": 175,
"cds_start": 196,
"cds_end": null,
"cds_length": 528,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 642,
"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+601G>A",
"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": 2161,
"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+601G>A",
"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": 1578,
"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.547-4684G>A",
"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": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908209.1"
}
],
"gene_symbol": "AP1M1",
"gene_hgnc_id": 13667,
"dbsnp": "rs774173547",
"frequency_reference_population": 0.000008208788,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000820879,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8963503837585449,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.528,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9821,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.744,
"phylop100way_prediction": "Pathogenic",
"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_001130524.2",
"gene_symbol": "AP1M1",
"hgnc_id": 13667,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Val322Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}