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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: 5-150056039-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150056039&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Moderate",
"PM1",
"PM2",
"PM5",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CSF1R",
"hgnc_id": 2433,
"hgvs_c": "c.2541G>T",
"hgvs_p": "p.Glu847Asp",
"inheritance_mode": "AD,AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_005211.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Moderate,PM1,PM2,PM5,PP3_Strong",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9968,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.47,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9914548397064209,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 972,
"aa_ref": "E",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3820,
"cdna_start": 2668,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2541,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001288705.3",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2541G>T",
"hgvs_p": "p.Glu847Asp",
"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": "D",
"aa_end": null,
"aa_length": 972,
"aa_ref": "E",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3820,
"cdna_start": 2668,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2541,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000675795.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2541G>T",
"hgvs_p": "p.Glu847Asp",
"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": "D",
"aa_end": null,
"aa_length": 972,
"aa_ref": "E",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3989,
"cdna_start": 2833,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2541,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000286301.7",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2541G>T",
"hgvs_p": "p.Glu847Asp",
"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": 17,
"exon_rank_end": null,
"feature": "ENST00000504875.5",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "n.*362G>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": 17,
"exon_rank_end": null,
"feature": "ENST00000504875.5",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "n.*362G>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": "D",
"aa_end": null,
"aa_length": 997,
"aa_ref": "E",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3867,
"cdna_start": 2721,
"cds_end": null,
"cds_length": 2994,
"cds_start": 2616,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000960687.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2616G>T",
"hgvs_p": "p.Glu872Asp",
"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": "D",
"aa_end": null,
"aa_length": 972,
"aa_ref": "E",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4064,
"cdna_start": 2912,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2541,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001349736.2",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2541G>T",
"hgvs_p": "p.Glu847Asp",
"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": "D",
"aa_end": null,
"aa_length": 972,
"aa_ref": "E",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4083,
"cdna_start": 2931,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2541,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001375320.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2541G>T",
"hgvs_p": "p.Glu847Asp",
"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": "D",
"aa_end": null,
"aa_length": 972,
"aa_ref": "E",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3978,
"cdna_start": 2826,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2541,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_005211.4",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2541G>T",
"hgvs_p": "p.Glu847Asp",
"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": "D",
"aa_end": null,
"aa_length": 971,
"aa_ref": "E",
"aa_start": 846,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3817,
"cdna_start": 2665,
"cds_end": null,
"cds_length": 2916,
"cds_start": 2538,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000911112.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2538G>T",
"hgvs_p": "p.Glu846Asp",
"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": "D",
"aa_end": null,
"aa_length": 970,
"aa_ref": "E",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3884,
"cdna_start": 2738,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2541,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000911110.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2541G>T",
"hgvs_p": "p.Glu847Asp",
"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": "D",
"aa_end": null,
"aa_length": 970,
"aa_ref": "E",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3785,
"cdna_start": 2634,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2535,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000960688.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2535G>T",
"hgvs_p": "p.Glu845Asp",
"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": "D",
"aa_end": null,
"aa_length": 959,
"aa_ref": "E",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3768,
"cdna_start": 2616,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2502,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000911114.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2502G>T",
"hgvs_p": "p.Glu834Asp",
"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": "D",
"aa_end": null,
"aa_length": 937,
"aa_ref": "E",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3687,
"cdna_start": 2535,
"cds_end": null,
"cds_length": 2814,
"cds_start": 2436,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000911115.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2436G>T",
"hgvs_p": "p.Glu812Asp",
"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": "D",
"aa_end": null,
"aa_length": 877,
"aa_ref": "E",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3605,
"cdna_start": 2453,
"cds_end": null,
"cds_length": 2634,
"cds_start": 2256,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000911111.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2256G>T",
"hgvs_p": "p.Glu752Asp",
"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": "D",
"aa_end": null,
"aa_length": 824,
"aa_ref": "E",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3749,
"cdna_start": 2597,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2097,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001375321.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.2097G>T",
"hgvs_p": "p.Glu699Asp",
"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": "D",
"aa_end": null,
"aa_length": 737,
"aa_ref": "E",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3085,
"cdna_start": 1933,
"cds_end": null,
"cds_length": 2214,
"cds_start": 1836,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000911116.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.1836G>T",
"hgvs_p": "p.Glu612Asp",
"intron_rank": null,
"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": "D",
"aa_end": null,
"aa_length": 692,
"aa_ref": "E",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 1820,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1701,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000911113.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "c.1701G>T",
"hgvs_p": "p.Glu567Asp",
"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": 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": 7,
"exon_rank_end": null,
"feature": "ENST00000515068.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "n.*515G>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": 17,
"exon_rank_end": null,
"feature": "NR_109969.2",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "n.2505G>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": 17,
"exon_rank_end": null,
"feature": "NR_164679.1",
"gene_hgnc_id": 2433,
"gene_symbol": "CSF1R",
"hgvs_c": "n.2434G>T",
"hgvs_p": null,
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}