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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: 4-56313293-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=56313293&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 56313293,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020722.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "NM_001393381.1",
"protein_id": "NP_001380310.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1233,
"cds_start": 451,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682029.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393381.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000682029.1",
"protein_id": "ENSP00000507165.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1233,
"cds_start": 451,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001393381.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682029.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Arg144Cys",
"transcript": "ENST00000541073.5",
"protein_id": "ENSP00000444006.1",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 1226,
"cds_start": 430,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541073.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Cys",
"transcript": "ENST00000646253.2",
"protein_id": "ENSP00000495373.2",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1318,
"cds_start": 706,
"cds_end": null,
"cds_length": 3957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646253.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "NM_001393382.1",
"protein_id": "NP_001380311.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1233,
"cds_start": 451,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393382.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "NM_020722.2",
"protein_id": "NP_065773.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1233,
"cds_start": 451,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020722.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000264229.11",
"protein_id": "ENSP00000264229.6",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 1233,
"cds_start": 451,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264229.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000504228.6",
"protein_id": "ENSP00000423366.1",
"transcript_support_level": 5,
"aa_start": 151,
"aa_end": null,
"aa_length": 1233,
"cds_start": 451,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504228.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000891237.1",
"protein_id": "ENSP00000561296.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1233,
"cds_start": 451,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891237.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000891238.1",
"protein_id": "ENSP00000561297.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1233,
"cds_start": 451,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891238.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.277C>T",
"hgvs_p": "p.Arg93Cys",
"transcript": "NM_001393383.1",
"protein_id": "NP_001380312.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1175,
"cds_start": 277,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393383.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.277C>T",
"hgvs_p": "p.Arg93Cys",
"transcript": "NM_001393384.1",
"protein_id": "NP_001380313.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1175,
"cds_start": 277,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393384.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.277C>T",
"hgvs_p": "p.Arg93Cys",
"transcript": "NM_001393385.1",
"protein_id": "NP_001380314.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1175,
"cds_start": 277,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393385.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000636006.1",
"protein_id": "ENSP00000490902.1",
"transcript_support_level": 5,
"aa_start": 151,
"aa_end": null,
"aa_length": 386,
"cds_start": 451,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636006.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Cys",
"transcript": "XM_047415994.1",
"protein_id": "XP_047271950.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1318,
"cds_start": 706,
"cds_end": null,
"cds_length": 3957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415994.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Cys",
"transcript": "XM_047415995.1",
"protein_id": "XP_047271951.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1318,
"cds_start": 706,
"cds_end": null,
"cds_length": 3957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415995.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "XM_005265752.3",
"protein_id": "XP_005265809.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1233,
"cds_start": 451,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265752.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Arg144Cys",
"transcript": "XM_017008473.2",
"protein_id": "XP_016863962.2",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1226,
"cds_start": 430,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008473.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.205C>T",
"hgvs_p": "p.Arg69Cys",
"transcript": "XM_005265755.3",
"protein_id": "XP_005265812.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 1151,
"cds_start": 205,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265755.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61Cys",
"transcript": "XM_005265756.3",
"protein_id": "XP_005265813.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1143,
"cds_start": 181,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265756.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"hgvs_c": "c.109C>T",
"hgvs_p": "p.Arg37Cys",
"transcript": "XM_006714045.3",
"protein_id": "XP_006714108.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1119,
"cds_start": 109,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714045.3"
}
],
"gene_symbol": "CRACD",
"gene_hgnc_id": 29219,
"dbsnp": "rs776352029",
"frequency_reference_population": 0.000056998273,
"hom_count_reference_population": 0,
"allele_count_reference_population": 92,
"gnomad_exomes_af": 0.0000601968,
"gnomad_genomes_af": 0.0000262791,
"gnomad_exomes_ac": 88,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2034226953983307,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.173,
"revel_prediction": "Benign",
"alphamissense_score": 0.1463,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.163,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020722.2",
"gene_symbol": "CRACD",
"hgnc_id": 29219,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys"
}
],
"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
}