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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: 11-19186331-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=19186331&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CSRP3",
"hgnc_id": 2472,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"inheritance_mode": "SD,AD",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_003476.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_score": -13,
"allele_count_reference_population": 1241,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0919,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "11",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "CSRP3-related disorder,Cardiomyopathy,Cardiovascular phenotype,Dilated cardiomyopathy 1M,Hypertrophic cardiomyopathy,Hypertrophic cardiomyopathy 12,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:7 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.010199755430221558,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1283,
"cdna_start": 357,
"cds_end": null,
"cds_length": 585,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_003476.5",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265968.9",
"protein_coding": true,
"protein_id": "NP_003467.1",
"strand": false,
"transcript": "NM_003476.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1283,
"cdna_start": 357,
"cds_end": null,
"cds_length": 585,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000265968.9",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003476.5",
"protein_coding": true,
"protein_id": "ENSP00000265968.3",
"strand": false,
"transcript": "ENST00000265968.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1457,
"cdna_start": 538,
"cds_end": null,
"cds_length": 585,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000533783.2",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431813.1",
"strand": false,
"transcript": "ENST00000533783.2",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 197,
"aa_ref": "R",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1292,
"cdna_start": 367,
"cds_end": null,
"cds_length": 594,
"cds_start": 308,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951070.1",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.308G>A",
"hgvs_p": "p.Arg103His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621129.1",
"strand": false,
"transcript": "ENST00000951070.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1067,
"cdna_start": 524,
"cds_end": null,
"cds_length": 585,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000649235.1",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497388.1",
"strand": false,
"transcript": "ENST00000649235.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2146,
"cdna_start": 416,
"cds_end": null,
"cds_length": 585,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000862857.1",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532916.1",
"strand": false,
"transcript": "ENST00000862857.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 960,
"cdna_start": 417,
"cds_end": null,
"cds_length": 585,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000862858.1",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532917.1",
"strand": false,
"transcript": "ENST00000862858.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1319,
"cdna_start": 396,
"cds_end": null,
"cds_length": 585,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000862859.1",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532918.1",
"strand": false,
"transcript": "ENST00000862859.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1053,
"cdna_start": 505,
"cds_end": null,
"cds_length": 585,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862860.1",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532919.1",
"strand": false,
"transcript": "ENST00000862860.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1460,
"cdna_start": 535,
"cds_end": null,
"cds_length": 585,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951069.1",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621128.1",
"strand": false,
"transcript": "ENST00000951069.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1264,
"cdna_start": 345,
"cds_end": null,
"cds_length": 585,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951071.1",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621130.1",
"strand": false,
"transcript": "ENST00000951071.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 194,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1611,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 585,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951072.1",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621131.1",
"strand": false,
"transcript": "ENST00000951072.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 194,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 924,
"cdna_start": 382,
"cds_end": null,
"cds_length": 585,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951073.1",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621132.1",
"strand": false,
"transcript": "ENST00000951073.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 968,
"cdna_start": 425,
"cds_end": null,
"cds_length": 585,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951075.1",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621134.1",
"strand": false,
"transcript": "ENST00000951075.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 190,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 889,
"cdna_start": 345,
"cds_end": null,
"cds_length": 573,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000862861.1",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.287G>A",
"hgvs_p": "p.Arg96His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532920.1",
"strand": false,
"transcript": "ENST00000862861.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 183,
"aa_ref": "R",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 866,
"cdna_start": 324,
"cds_end": null,
"cds_length": 552,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951074.1",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621133.1",
"strand": false,
"transcript": "ENST00000951074.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 150,
"aa_ref": "A",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1114,
"cdna_start": 188,
"cds_end": null,
"cds_length": 453,
"cds_start": 130,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001369404.1",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Ala44Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356333.1",
"strand": false,
"transcript": "NM_001369404.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"canonical": false,
"cdna_end": null,
"cdna_length": 735,
"cdna_start": 194,
"cds_end": null,
"cds_length": 453,
"cds_start": 130,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000649842.1",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Ala44Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497531.1",
"strand": false,
"transcript": "ENST00000649842.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 162,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1009,
"cdna_start": null,
"cds_end": null,
"cds_length": 489,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647990.1",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.282-1286G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496798.1",
"strand": false,
"transcript": "ENST00000647990.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 59,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 890,
"cdna_start": null,
"cds_end": null,
"cds_length": 180,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648719.1",
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"hgvs_c": "c.113-1286G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497633.1",
"strand": false,
"transcript": "ENST00000648719.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs138218523",
"effect": "missense_variant",
"frequency_reference_population": 0.00076882285,
"gene_hgnc_id": 2472,
"gene_symbol": "CSRP3",
"gnomad_exomes_ac": 1103,
"gnomad_exomes_af": 0.000754507,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_ac": 138,
"gnomad_genomes_af": 0.000906261,
"gnomad_genomes_homalt": 1,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 4,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not specified|Hypertrophic cardiomyopathy|not provided|Cardiovascular phenotype|Cardiomyopathy|Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12|Hypertrophic cardiomyopathy 12|CSRP3-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.76,
"pos": 19186331,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.353,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_003476.5"
}
]
}