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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: 16-88652541-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=88652541&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 88652541,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002461.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.1187C>G",
"hgvs_p": "p.Pro396Arg",
"transcript": "NM_002461.3",
"protein_id": "NP_002452.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 400,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301012.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002461.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.1187C>G",
"hgvs_p": "p.Pro396Arg",
"transcript": "ENST00000301012.8",
"protein_id": "ENSP00000301012.3",
"transcript_support_level": 1,
"aa_start": 396,
"aa_end": null,
"aa_length": 400,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002461.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301012.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "n.1746C>G",
"hgvs_p": null,
"transcript": "ENST00000565149.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000565149.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Pro436Arg",
"transcript": "ENST00000899622.1",
"protein_id": "ENSP00000569681.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 440,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899622.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.1304C>G",
"hgvs_p": "p.Pro435Arg",
"transcript": "ENST00000960173.1",
"protein_id": "ENSP00000630232.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 439,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960173.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.1283C>G",
"hgvs_p": "p.Pro428Arg",
"transcript": "ENST00000960172.1",
"protein_id": "ENSP00000630231.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 432,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960172.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.1184C>G",
"hgvs_p": "p.Pro395Arg",
"transcript": "ENST00000930046.1",
"protein_id": "ENSP00000600105.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 399,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930046.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.1112C>G",
"hgvs_p": "p.Pro371Arg",
"transcript": "ENST00000960174.1",
"protein_id": "ENSP00000630233.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 375,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960174.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.854C>G",
"hgvs_p": "p.Pro285Arg",
"transcript": "ENST00000899621.1",
"protein_id": "ENSP00000569680.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 289,
"cds_start": 854,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899621.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.1289C>G",
"hgvs_p": "p.Pro430Arg",
"transcript": "XM_011523086.3",
"protein_id": "XP_011521388.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 434,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523086.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.1226C>G",
"hgvs_p": "p.Pro409Arg",
"transcript": "XM_011523087.3",
"protein_id": "XP_011521389.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 413,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523087.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.1124C>G",
"hgvs_p": "p.Pro375Arg",
"transcript": "XM_011523088.3",
"protein_id": "XP_011521390.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 379,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523088.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Pro279Arg",
"transcript": "XM_011523089.3",
"protein_id": "XP_011521391.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 283,
"cds_start": 836,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523089.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "n.468C>G",
"hgvs_p": null,
"transcript": "ENST00000561895.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000561895.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "n.350C>G",
"hgvs_p": null,
"transcript": "ENST00000562981.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000562981.1"
}
],
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"dbsnp": "rs774799205",
"frequency_reference_population": 0.00003496157,
"hom_count_reference_population": 0,
"allele_count_reference_population": 55,
"gnomad_exomes_af": 0.0000344845,
"gnomad_genomes_af": 0.0000394146,
"gnomad_exomes_ac": 49,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5419578552246094,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.249,
"revel_prediction": "Benign",
"alphamissense_score": 0.372,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.029,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002461.3",
"gene_symbol": "MVD",
"hgnc_id": 7529,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1187C>G",
"hgvs_p": "p.Pro396Arg"
}
],
"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
}