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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: 19-50440880-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50440880&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "MYBPC2",
"hgnc_id": 7550,
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Arg191Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_004533.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -3,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "19",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.44999998807907104,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1141,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3604,
"cdna_start": 635,
"cds_end": null,
"cds_length": 3426,
"cds_start": 573,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_004533.4",
"gene_hgnc_id": 7550,
"gene_symbol": "MYBPC2",
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Arg191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357701.6",
"protein_coding": true,
"protein_id": "NP_004524.3",
"strand": true,
"transcript": "NM_004533.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1141,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3604,
"cdna_start": 635,
"cds_end": null,
"cds_length": 3426,
"cds_start": 573,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000357701.6",
"gene_hgnc_id": 7550,
"gene_symbol": "MYBPC2",
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Arg191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004533.4",
"protein_coding": true,
"protein_id": "ENSP00000350332.4",
"strand": true,
"transcript": "ENST00000357701.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1196,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3767,
"cdna_start": 635,
"cds_end": null,
"cds_length": 3591,
"cds_start": 573,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966357.1",
"gene_hgnc_id": 7550,
"gene_symbol": "MYBPC2",
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Arg191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636416.1",
"strand": true,
"transcript": "ENST00000966357.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1184,
"aa_ref": "R",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": 771,
"cds_end": null,
"cds_length": 3555,
"cds_start": 702,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000966353.1",
"gene_hgnc_id": 7550,
"gene_symbol": "MYBPC2",
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Arg234Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636412.1",
"strand": true,
"transcript": "ENST00000966353.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3675,
"cdna_start": 635,
"cds_end": null,
"cds_length": 3492,
"cds_start": 573,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966355.1",
"gene_hgnc_id": 7550,
"gene_symbol": "MYBPC2",
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Arg191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636414.1",
"strand": true,
"transcript": "ENST00000966355.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3664,
"cdna_start": 632,
"cds_end": null,
"cds_length": 3489,
"cds_start": 570,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966358.1",
"gene_hgnc_id": 7550,
"gene_symbol": "MYBPC2",
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Arg190Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636417.1",
"strand": true,
"transcript": "ENST00000966358.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1155,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3642,
"cdna_start": 635,
"cds_end": null,
"cds_length": 3468,
"cds_start": 573,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966361.1",
"gene_hgnc_id": 7550,
"gene_symbol": "MYBPC2",
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Arg191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636420.1",
"strand": true,
"transcript": "ENST00000966361.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3646,
"cdna_start": 677,
"cds_end": null,
"cds_length": 3423,
"cds_start": 570,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966352.1",
"gene_hgnc_id": 7550,
"gene_symbol": "MYBPC2",
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Arg190Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636411.1",
"strand": true,
"transcript": "ENST00000966352.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1121,
"aa_ref": "T",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3540,
"cdna_start": 575,
"cds_end": null,
"cds_length": 3366,
"cds_start": 513,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000966359.1",
"gene_hgnc_id": 7550,
"gene_symbol": "MYBPC2",
"hgvs_c": "c.513G>A",
"hgvs_p": "p.Thr171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636418.1",
"strand": true,
"transcript": "ENST00000966359.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1118,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3542,
"cdna_start": 635,
"cds_end": null,
"cds_length": 3357,
"cds_start": 573,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966354.1",
"gene_hgnc_id": 7550,
"gene_symbol": "MYBPC2",
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Arg191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636413.1",
"strand": true,
"transcript": "ENST00000966354.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1111,
"aa_ref": "R",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": 545,
"cds_end": null,
"cds_length": 3336,
"cds_start": 483,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000966356.1",
"gene_hgnc_id": 7550,
"gene_symbol": "MYBPC2",
"hgvs_c": "c.483G>A",
"hgvs_p": "p.Arg161Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636415.1",
"strand": true,
"transcript": "ENST00000966356.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1096,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3465,
"cdna_start": 635,
"cds_end": null,
"cds_length": 3291,
"cds_start": 573,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966360.1",
"gene_hgnc_id": 7550,
"gene_symbol": "MYBPC2",
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Arg191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636419.1",
"strand": true,
"transcript": "ENST00000966360.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3395,
"cdna_start": 722,
"cds_end": null,
"cds_length": 3129,
"cds_start": 573,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966351.1",
"gene_hgnc_id": 7550,
"gene_symbol": "MYBPC2",
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Arg191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636410.1",
"strand": true,
"transcript": "ENST00000966351.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Benign",
"dbscsnv_ada_score": 0.0636904994483524,
"dbsnp": "rs568422087",
"effect": "splice_region_variant,synonymous_variant",
"frequency_reference_population": 0.0000068248546,
"gene_hgnc_id": 7550,
"gene_symbol": "MYBPC2",
"gnomad_exomes_ac": 9,
"gnomad_exomes_af": 0.0000061662,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131418,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.721,
"pos": 50440880,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.2680000066757202,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_004533.4"
}
]
}