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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: 5-150056332-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150056332&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CSF1R",
"hgnc_id": 2433,
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Arg777Trp",
"inheritance_mode": "AD,AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_005211.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9902,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.42,
"chr": "5",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Hereditary diffuse leukoencephalopathy with spheroids,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9939337968826294,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 972,
"aa_ref": "R",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3820,
"cdna_start": 2456,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2329,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001288705.3",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Arg777Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000675795.1",
"protein_coding": true,
"protein_id": "NP_001275634.1",
"strand": false,
"transcript": "NM_001288705.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 972,
"aa_ref": "R",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3820,
"cdna_start": 2456,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2329,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000675795.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Arg777Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001288705.3",
"protein_coding": true,
"protein_id": "ENSP00000501699.1",
"strand": false,
"transcript": "ENST00000675795.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 972,
"aa_ref": "R",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3989,
"cdna_start": 2621,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2329,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000286301.7",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Arg777Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000286301.3",
"strand": false,
"transcript": "ENST00000286301.7",
"transcript_support_level": 1
},
{
"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": 3697,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000504875.5",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "n.*150C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000422212.1",
"strand": false,
"transcript": "ENST00000504875.5",
"transcript_support_level": 1
},
{
"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": 3697,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000504875.5",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "n.*150C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000422212.1",
"strand": false,
"transcript": "ENST00000504875.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 997,
"aa_ref": "R",
"aa_start": 802,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3867,
"cdna_start": 2509,
"cds_end": null,
"cds_length": 2994,
"cds_start": 2404,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000960687.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2404C>T",
"hgvs_p": "p.Arg802Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630746.1",
"strand": false,
"transcript": "ENST00000960687.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 972,
"aa_ref": "R",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4064,
"cdna_start": 2700,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2329,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001349736.2",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Arg777Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336665.1",
"strand": false,
"transcript": "NM_001349736.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 972,
"aa_ref": "R",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4083,
"cdna_start": 2719,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2329,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001375320.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Arg777Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362249.1",
"strand": false,
"transcript": "NM_001375320.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 972,
"aa_ref": "R",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3978,
"cdna_start": 2614,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2329,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_005211.4",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Arg777Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005202.2",
"strand": false,
"transcript": "NM_005211.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 971,
"aa_ref": "R",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3817,
"cdna_start": 2453,
"cds_end": null,
"cds_length": 2916,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000911112.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2326C>T",
"hgvs_p": "p.Arg776Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581171.1",
"strand": false,
"transcript": "ENST00000911112.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 970,
"aa_ref": "R",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3884,
"cdna_start": 2526,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2329,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000911110.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Arg777Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581169.1",
"strand": false,
"transcript": "ENST00000911110.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 970,
"aa_ref": "R",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3785,
"cdna_start": 2422,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2323,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000960688.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2323C>T",
"hgvs_p": "p.Arg775Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630747.1",
"strand": false,
"transcript": "ENST00000960688.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 959,
"aa_ref": "R",
"aa_start": 764,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3768,
"cdna_start": 2404,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2290,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000911114.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2290C>T",
"hgvs_p": "p.Arg764Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581173.1",
"strand": false,
"transcript": "ENST00000911114.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 937,
"aa_ref": "R",
"aa_start": 742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3687,
"cdna_start": 2323,
"cds_end": null,
"cds_length": 2814,
"cds_start": 2224,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000911115.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581174.1",
"strand": false,
"transcript": "ENST00000911115.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 877,
"aa_ref": "R",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3605,
"cdna_start": 2241,
"cds_end": null,
"cds_length": 2634,
"cds_start": 2044,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000911111.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2044C>T",
"hgvs_p": "p.Arg682Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581170.1",
"strand": false,
"transcript": "ENST00000911111.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 824,
"aa_ref": "R",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3749,
"cdna_start": 2385,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001375321.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.1885C>T",
"hgvs_p": "p.Arg629Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362250.1",
"strand": false,
"transcript": "NM_001375321.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1489,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000911113.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.1489C>T",
"hgvs_p": "p.Arg497Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581172.1",
"strand": false,
"transcript": "ENST00000911113.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 737,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3085,
"cdna_start": null,
"cds_end": null,
"cds_length": 2214,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911116.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.1738-195C>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581175.1",
"strand": false,
"transcript": "ENST00000911116.1",
"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": 723,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000515068.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "n.*303C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000427545.1",
"strand": false,
"transcript": "ENST00000515068.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3657,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NR_109969.2",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "n.2293C>T",
"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": "NR_109969.2",
"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": 3586,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NR_164679.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
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{
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]
}