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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: 19-50437517-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50437517&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50437517,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004533.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC2",
"gene_hgnc_id": 7550,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Arg170Ser",
"transcript": "NM_004533.4",
"protein_id": "NP_004524.3",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 1141,
"cds_start": 508,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": "ENST00000357701.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004533.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC2",
"gene_hgnc_id": 7550,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Arg170Ser",
"transcript": "ENST00000357701.6",
"protein_id": "ENSP00000350332.4",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 1141,
"cds_start": 508,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": "NM_004533.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357701.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC2",
"gene_hgnc_id": 7550,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Arg170Ser",
"transcript": "ENST00000966357.1",
"protein_id": "ENSP00000636416.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 1196,
"cds_start": 508,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966357.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC2",
"gene_hgnc_id": 7550,
"hgvs_c": "c.637C>A",
"hgvs_p": "p.Arg213Ser",
"transcript": "ENST00000966353.1",
"protein_id": "ENSP00000636412.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1184,
"cds_start": 637,
"cds_end": null,
"cds_length": 3555,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966353.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC2",
"gene_hgnc_id": 7550,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Arg170Ser",
"transcript": "ENST00000966355.1",
"protein_id": "ENSP00000636414.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 1163,
"cds_start": 508,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 3675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966355.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC2",
"gene_hgnc_id": 7550,
"hgvs_c": "c.505C>A",
"hgvs_p": "p.Arg169Ser",
"transcript": "ENST00000966358.1",
"protein_id": "ENSP00000636417.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1162,
"cds_start": 505,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 3664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966358.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC2",
"gene_hgnc_id": 7550,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Arg170Ser",
"transcript": "ENST00000966361.1",
"protein_id": "ENSP00000636420.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 1155,
"cds_start": 508,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 3642,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966361.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC2",
"gene_hgnc_id": 7550,
"hgvs_c": "c.505C>A",
"hgvs_p": "p.Arg169Ser",
"transcript": "ENST00000966352.1",
"protein_id": "ENSP00000636411.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1140,
"cds_start": 505,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 3646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966352.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC2",
"gene_hgnc_id": 7550,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Arg170Ser",
"transcript": "ENST00000966359.1",
"protein_id": "ENSP00000636418.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 1121,
"cds_start": 508,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966359.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC2",
"gene_hgnc_id": 7550,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Arg170Ser",
"transcript": "ENST00000966354.1",
"protein_id": "ENSP00000636413.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 1118,
"cds_start": 508,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 3542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966354.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC2",
"gene_hgnc_id": 7550,
"hgvs_c": "c.418C>A",
"hgvs_p": "p.Arg140Ser",
"transcript": "ENST00000966356.1",
"protein_id": "ENSP00000636415.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 1111,
"cds_start": 418,
"cds_end": null,
"cds_length": 3336,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966356.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC2",
"gene_hgnc_id": 7550,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Arg170Ser",
"transcript": "ENST00000966360.1",
"protein_id": "ENSP00000636419.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 1096,
"cds_start": 508,
"cds_end": null,
"cds_length": 3291,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 3465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966360.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC2",
"gene_hgnc_id": 7550,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Arg170Ser",
"transcript": "ENST00000966351.1",
"protein_id": "ENSP00000636410.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 1042,
"cds_start": 508,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 3395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966351.1"
}
],
"gene_symbol": "MYBPC2",
"gene_hgnc_id": 7550,
"dbsnp": "rs369947013",
"frequency_reference_population": 0.0000055890414,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000548622,
"gnomad_genomes_af": 0.00000657488,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5783942937850952,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.272,
"revel_prediction": "Benign",
"alphamissense_score": 0.3416,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.849,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004533.4",
"gene_symbol": "MYBPC2",
"hgnc_id": 7550,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Arg170Ser"
}
],
"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
}