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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: 5-150054082-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150054082&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150054082,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005211.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.2906A>G",
"hgvs_p": "p.Tyr969Cys",
"transcript": "NM_001288705.3",
"protein_id": "NP_001275634.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 972,
"cds_start": 2906,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 3033,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": "ENST00000675795.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288705.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.2906A>G",
"hgvs_p": "p.Tyr969Cys",
"transcript": "ENST00000675795.1",
"protein_id": "ENSP00000501699.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 972,
"cds_start": 2906,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 3033,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": "NM_001288705.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675795.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.2906A>G",
"hgvs_p": "p.Tyr969Cys",
"transcript": "ENST00000286301.7",
"protein_id": "ENSP00000286301.3",
"transcript_support_level": 1,
"aa_start": 969,
"aa_end": null,
"aa_length": 972,
"cds_start": 2906,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 3198,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286301.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "n.*727A>G",
"hgvs_p": null,
"transcript": "ENST00000504875.5",
"protein_id": "ENSP00000422212.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000504875.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "n.*727A>G",
"hgvs_p": null,
"transcript": "ENST00000504875.5",
"protein_id": "ENSP00000422212.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000504875.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.2981A>G",
"hgvs_p": "p.Tyr994Cys",
"transcript": "ENST00000960687.1",
"protein_id": "ENSP00000630746.1",
"transcript_support_level": null,
"aa_start": 994,
"aa_end": null,
"aa_length": 997,
"cds_start": 2981,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 3086,
"cdna_end": null,
"cdna_length": 3867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960687.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.2906A>G",
"hgvs_p": "p.Tyr969Cys",
"transcript": "NM_001349736.2",
"protein_id": "NP_001336665.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 972,
"cds_start": 2906,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 3277,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349736.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.2906A>G",
"hgvs_p": "p.Tyr969Cys",
"transcript": "NM_001375320.1",
"protein_id": "NP_001362249.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 972,
"cds_start": 2906,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 3296,
"cdna_end": null,
"cdna_length": 4083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375320.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.2906A>G",
"hgvs_p": "p.Tyr969Cys",
"transcript": "NM_005211.4",
"protein_id": "NP_005202.2",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 972,
"cds_start": 2906,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 3191,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005211.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.2903A>G",
"hgvs_p": "p.Tyr968Cys",
"transcript": "ENST00000911112.1",
"protein_id": "ENSP00000581171.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 971,
"cds_start": 2903,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 3030,
"cdna_end": null,
"cdna_length": 3817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911112.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.2900A>G",
"hgvs_p": "p.Tyr967Cys",
"transcript": "ENST00000911110.1",
"protein_id": "ENSP00000581169.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 970,
"cds_start": 2900,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 3097,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911110.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.2900A>G",
"hgvs_p": "p.Tyr967Cys",
"transcript": "ENST00000960688.1",
"protein_id": "ENSP00000630747.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 970,
"cds_start": 2900,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 2999,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960688.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.2867A>G",
"hgvs_p": "p.Tyr956Cys",
"transcript": "ENST00000911114.1",
"protein_id": "ENSP00000581173.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 959,
"cds_start": 2867,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 2981,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911114.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.2801A>G",
"hgvs_p": "p.Tyr934Cys",
"transcript": "ENST00000911115.1",
"protein_id": "ENSP00000581174.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 937,
"cds_start": 2801,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2900,
"cdna_end": null,
"cdna_length": 3687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911115.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.2621A>G",
"hgvs_p": "p.Tyr874Cys",
"transcript": "ENST00000911111.1",
"protein_id": "ENSP00000581170.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 877,
"cds_start": 2621,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 2818,
"cdna_end": null,
"cdna_length": 3605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911111.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.2462A>G",
"hgvs_p": "p.Tyr821Cys",
"transcript": "NM_001375321.1",
"protein_id": "NP_001362250.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 824,
"cds_start": 2462,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2962,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375321.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.2201A>G",
"hgvs_p": "p.Tyr734Cys",
"transcript": "ENST00000911116.1",
"protein_id": "ENSP00000581175.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 737,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911116.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "c.2066A>G",
"hgvs_p": "p.Tyr689Cys",
"transcript": "ENST00000911113.1",
"protein_id": "ENSP00000581172.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 692,
"cds_start": 2066,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911113.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "n.642A>G",
"hgvs_p": null,
"transcript": "ENST00000509861.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 886,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000509861.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "n.2870A>G",
"hgvs_p": null,
"transcript": "NR_109969.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_109969.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"hgvs_c": "n.2799A>G",
"hgvs_p": null,
"transcript": "NR_164679.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3586,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_164679.1"
}
],
"gene_symbol": "CSF1R",
"gene_hgnc_id": 2433,
"dbsnp": "rs1801271",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7494460344314575,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.312,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3578,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.852,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005211.4",
"gene_symbol": "CSF1R",
"hgnc_id": 2433,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2906A>G",
"hgvs_p": "p.Tyr969Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}