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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: 11-19188161-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=19188161&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 19188161,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003476.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Glu86Lys",
"transcript": "NM_003476.5",
"protein_id": "NP_003467.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 194,
"cds_start": 256,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265968.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003476.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Glu86Lys",
"transcript": "ENST00000265968.9",
"protein_id": "ENSP00000265968.3",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 194,
"cds_start": 256,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003476.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265968.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Glu86Lys",
"transcript": "ENST00000533783.2",
"protein_id": "ENSP00000431813.1",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 194,
"cds_start": 256,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533783.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Glu89Lys",
"transcript": "ENST00000951070.1",
"protein_id": "ENSP00000621129.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 197,
"cds_start": 265,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951070.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Glu86Lys",
"transcript": "ENST00000649235.1",
"protein_id": "ENSP00000497388.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 194,
"cds_start": 256,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649235.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Glu86Lys",
"transcript": "ENST00000862857.1",
"protein_id": "ENSP00000532916.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 194,
"cds_start": 256,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862857.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Glu86Lys",
"transcript": "ENST00000862858.1",
"protein_id": "ENSP00000532917.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 194,
"cds_start": 256,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862858.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Glu86Lys",
"transcript": "ENST00000862859.1",
"protein_id": "ENSP00000532918.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 194,
"cds_start": 256,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862859.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Glu86Lys",
"transcript": "ENST00000862860.1",
"protein_id": "ENSP00000532919.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 194,
"cds_start": 256,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862860.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Glu86Lys",
"transcript": "ENST00000951069.1",
"protein_id": "ENSP00000621128.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 194,
"cds_start": 256,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951069.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Glu86Lys",
"transcript": "ENST00000951071.1",
"protein_id": "ENSP00000621130.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 194,
"cds_start": 256,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951071.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Glu86Lys",
"transcript": "ENST00000951072.1",
"protein_id": "ENSP00000621131.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 194,
"cds_start": 256,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951072.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Glu86Lys",
"transcript": "ENST00000951073.1",
"protein_id": "ENSP00000621132.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 194,
"cds_start": 256,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951073.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Glu86Lys",
"transcript": "ENST00000951075.1",
"protein_id": "ENSP00000621134.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 194,
"cds_start": 256,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951075.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Glu82Lys",
"transcript": "ENST00000862861.1",
"protein_id": "ENSP00000532920.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 190,
"cds_start": 244,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862861.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Glu75Lys",
"transcript": "ENST00000951074.1",
"protein_id": "ENSP00000621133.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 183,
"cds_start": 223,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951074.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Glu86Lys",
"transcript": "ENST00000647990.1",
"protein_id": "ENSP00000496798.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 162,
"cds_start": 256,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647990.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.113-1813G>A",
"hgvs_p": null,
"transcript": "NM_001369404.1",
"protein_id": "NP_001356333.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": null,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369404.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.113-1813G>A",
"hgvs_p": null,
"transcript": "ENST00000649842.1",
"protein_id": "ENSP00000497531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": null,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649842.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.113-3116G>A",
"hgvs_p": null,
"transcript": "ENST00000648719.1",
"protein_id": "ENSP00000497633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648719.1"
}
],
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"dbsnp": "rs780917755",
"frequency_reference_population": 0.000013010943,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000123132,
"gnomad_genomes_af": 0.0000197135,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20334306359291077,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.2044,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.796,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003476.5",
"gene_symbol": "CSRP3",
"hgnc_id": 2472,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,SD",
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Glu86Lys"
}
],
"clinvar_disease": "CSRP3-related disorder,Cardiovascular phenotype,Dilated cardiomyopathy 1M,Hypertrophic cardiomyopathy 12,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M|not provided|Cardiovascular phenotype|CSRP3-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}