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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: 5-149505506-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=149505506&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CSNK1A1",
"hgnc_id": 2451,
"hgvs_c": "c.1031G>A",
"hgvs_p": "p.Gly344Asp",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001025105.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.219,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3893384635448456,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 337,
"aa_ref": "G",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5360,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 1014,
"cds_start": 947,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001892.6",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Gly316Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377843.8",
"protein_coding": true,
"protein_id": "NP_001883.4",
"strand": false,
"transcript": "NM_001892.6",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 337,
"aa_ref": "G",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5360,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 1014,
"cds_start": 947,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000377843.8",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Gly316Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001892.6",
"protein_coding": true,
"protein_id": "ENSP00000367074.2",
"strand": false,
"transcript": "ENST00000377843.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 365,
"aa_ref": "G",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5444,
"cdna_start": 1506,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000261798.10",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "c.1031G>A",
"hgvs_p": "p.Gly344Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261798.6",
"strand": false,
"transcript": "ENST00000261798.10",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 368,
"aa_ref": "G",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2476,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 1107,
"cds_start": 1040,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000606719.6",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Gly347Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000475319.2",
"strand": false,
"transcript": "ENST00000606719.6",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 365,
"aa_ref": "G",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5444,
"cdna_start": 1506,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001025105.3",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "c.1031G>A",
"hgvs_p": "p.Gly344Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020276.1",
"strand": false,
"transcript": "NM_001025105.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 353,
"aa_ref": "G",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2570,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 1062,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000515768.6",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "c.1031G>A",
"hgvs_p": "p.Gly344Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421689.2",
"strand": false,
"transcript": "ENST00000515768.6",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 325,
"aa_ref": "G",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5324,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 978,
"cds_start": 947,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001271741.2",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Gly316Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258670.1",
"strand": false,
"transcript": "NM_001271741.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 325,
"aa_ref": "G",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4902,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 978,
"cds_start": 947,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000657001.1",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Gly316Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499757.1",
"strand": false,
"transcript": "ENST00000657001.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 276,
"aa_ref": "G",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5030,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 831,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001271742.2",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Gly255Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258671.1",
"strand": false,
"transcript": "NM_001271742.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 264,
"aa_ref": "G",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1856,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 795,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000515435.5",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Gly255Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427031.1",
"strand": false,
"transcript": "ENST00000515435.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 236,
"aa_ref": "G",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": 942,
"cds_end": null,
"cds_length": 711,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000504676.5",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Gly227Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426747.1",
"strand": false,
"transcript": "ENST00000504676.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 166,
"aa_ref": "G",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1099,
"cdna_start": 439,
"cds_end": null,
"cds_length": 501,
"cds_start": 437,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000503350.6",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Gly146Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425366.1",
"strand": false,
"transcript": "ENST00000503350.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 599,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000606299.2",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "n.*166G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000475633.2",
"strand": false,
"transcript": "ENST00000606299.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 800,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000606826.5",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "n.401G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000475969.1",
"strand": false,
"transcript": "ENST00000606826.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000657462.1",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "n.*586G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499532.1",
"strand": false,
"transcript": "ENST00000657462.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3315,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000657706.1",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "n.1181G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499284.1",
"strand": false,
"transcript": "ENST00000657706.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2413,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000661952.1",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "n.*728G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499647.1",
"strand": false,
"transcript": "ENST00000661952.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1848,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000662268.1",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "n.1000G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000662268.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 599,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000606299.2",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "n.*166G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000475633.2",
"strand": false,
"transcript": "ENST00000606299.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000657462.1",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "n.*586G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499532.1",
"strand": false,
"transcript": "ENST00000657462.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2413,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000661952.1",
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
"hgvs_c": "n.*728G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000499647.1",
"strand": false,
"transcript": "ENST00000661952.1",
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}
],
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"dbscsnv_ada_score": null,
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"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 2451,
"gene_symbol": "CSNK1A1",
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"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"pos": 149505506,
"ref": "C",
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"splice_prediction_selected": "Benign",
"splice_score_selected": 0.03999999910593033,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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}
]
}