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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: 16-88655221-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=88655221&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 88655221,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002461.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.875A>G",
"hgvs_p": "p.Asn292Ser",
"transcript": "NM_002461.3",
"protein_id": "NP_002452.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 400,
"cds_start": 875,
"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": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.875A>G",
"hgvs_p": "p.Asn292Ser",
"transcript": "ENST00000301012.8",
"protein_id": "ENSP00000301012.3",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 400,
"cds_start": 875,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "n.1434A>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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.995A>G",
"hgvs_p": "p.Asn332Ser",
"transcript": "ENST00000899622.1",
"protein_id": "ENSP00000569681.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 440,
"cds_start": 995,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.992A>G",
"hgvs_p": "p.Asn331Ser",
"transcript": "ENST00000960173.1",
"protein_id": "ENSP00000630232.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 439,
"cds_start": 992,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.971A>G",
"hgvs_p": "p.Asn324Ser",
"transcript": "ENST00000960172.1",
"protein_id": "ENSP00000630231.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 432,
"cds_start": 971,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Asn291Ser",
"transcript": "ENST00000930046.1",
"protein_id": "ENSP00000600105.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 399,
"cds_start": 872,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.800A>G",
"hgvs_p": "p.Asn267Ser",
"transcript": "ENST00000960174.1",
"protein_id": "ENSP00000630233.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 375,
"cds_start": 800,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.542A>G",
"hgvs_p": "p.Asn181Ser",
"transcript": "ENST00000899621.1",
"protein_id": "ENSP00000569680.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 289,
"cds_start": 542,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.977A>G",
"hgvs_p": "p.Asn326Ser",
"transcript": "XM_011523086.3",
"protein_id": "XP_011521388.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 434,
"cds_start": 977,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asn305Ser",
"transcript": "XM_011523087.3",
"protein_id": "XP_011521389.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 413,
"cds_start": 914,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.812A>G",
"hgvs_p": "p.Asn271Ser",
"transcript": "XM_011523088.3",
"protein_id": "XP_011521390.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 379,
"cds_start": 812,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.524A>G",
"hgvs_p": "p.Asn175Ser",
"transcript": "XM_011523089.3",
"protein_id": "XP_011521391.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 283,
"cds_start": 524,
"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": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "c.*164A>G",
"hgvs_p": null,
"transcript": "ENST00000569177.5",
"protein_id": "ENSP00000455131.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569177.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"hgvs_c": "n.-236A>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"
}
],
"gene_symbol": "MVD",
"gene_hgnc_id": 7529,
"dbsnp": "rs755948940",
"frequency_reference_population": 0.0000070018204,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.0000049337,
"gnomad_genomes_af": 0.0000262802,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9320405721664429,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.423,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2756,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.17,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate,PP5_Moderate,BS2",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 4,
"pathogenic_score": 4,
"criteria": [
"PP3_Moderate",
"PP5_Moderate",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002461.3",
"gene_symbol": "MVD",
"hgnc_id": 7529,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.875A>G",
"hgvs_p": "p.Asn292Ser"
}
],
"clinvar_disease": " multiple types,Porokeratosis 7",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Porokeratosis 7, multiple types",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}