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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: 4-54290546-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=54290546&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PDGFRA",
"hgnc_id": 8803,
"hgvs_c": "c.3189C>T",
"hgvs_p": "p.Asn1063Asn",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001347828.2",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ENSG00000282278",
"hgnc_id": null,
"hgvs_c": "c.2394C>T",
"hgvs_p": "p.Asn798Asn",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -3,
"transcript": "ENST00000507166.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "4",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Hereditary cancer-predisposing syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.2800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "N",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6378,
"cdna_start": 3249,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3114,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_006206.6",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Asn1038Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257290.10",
"protein_coding": true,
"protein_id": "NP_006197.1",
"strand": true,
"transcript": "NM_006206.6",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "N",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6378,
"cdna_start": 3249,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3114,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000257290.10",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Asn1038Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006206.6",
"protein_coding": true,
"protein_id": "ENSP00000257290.5",
"strand": true,
"transcript": "ENST00000257290.10",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 849,
"aa_ref": "N",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2550,
"cdna_start": 2394,
"cds_end": null,
"cds_length": 2550,
"cds_start": 2394,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000507166.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000282278",
"hgvs_c": "c.2394C>T",
"hgvs_p": "p.Asn798Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423325.1",
"strand": true,
"transcript": "ENST00000507166.5",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "N",
"aa_start": 1063,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6456,
"cdna_start": 3327,
"cds_end": null,
"cds_length": 3345,
"cds_start": 3189,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001347828.2",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3189C>T",
"hgvs_p": "p.Asn1063Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334757.1",
"strand": true,
"transcript": "NM_001347828.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1102,
"aa_ref": "N",
"aa_start": 1051,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6794,
"cdna_start": 3665,
"cds_end": null,
"cds_length": 3309,
"cds_start": 3153,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001347830.2",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3153C>T",
"hgvs_p": "p.Asn1051Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334759.1",
"strand": true,
"transcript": "NM_001347830.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "N",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6599,
"cdna_start": 3470,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3114,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001347829.2",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Asn1038Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334758.1",
"strand": true,
"transcript": "NM_001347829.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "N",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6448,
"cdna_start": 3319,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3114,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000870889.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Asn1038Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540948.1",
"strand": true,
"transcript": "ENST00000870889.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "N",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6627,
"cdna_start": 3499,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3114,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000870890.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Asn1038Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540949.1",
"strand": true,
"transcript": "ENST00000870890.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "N",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6778,
"cdna_start": 3651,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3114,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000958745.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Asn1038Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628804.1",
"strand": true,
"transcript": "ENST00000958745.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "N",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6988,
"cdna_start": 3860,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3114,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000958746.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Asn1038Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628805.1",
"strand": true,
"transcript": "ENST00000958746.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "N",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6448,
"cdna_start": 3318,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3114,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000958749.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Asn1038Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628808.1",
"strand": true,
"transcript": "ENST00000958749.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "N",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6341,
"cdna_start": 3212,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3114,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000958750.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Asn1038Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628809.1",
"strand": true,
"transcript": "ENST00000958750.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "N",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6523,
"cdna_start": 3395,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3114,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000958751.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Asn1038Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628810.1",
"strand": true,
"transcript": "ENST00000958751.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "N",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6370,
"cdna_start": 3244,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3114,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000958752.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Asn1038Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628811.1",
"strand": true,
"transcript": "ENST00000958752.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "N",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6000,
"cdna_start": 3771,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3114,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000958753.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Asn1038Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628812.1",
"strand": true,
"transcript": "ENST00000958753.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "N",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8031,
"cdna_start": 4903,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3114,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000958754.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Asn1038Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628813.1",
"strand": true,
"transcript": "ENST00000958754.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "N",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7203,
"cdna_start": 4073,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3114,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000958755.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Asn1038Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628814.1",
"strand": true,
"transcript": "ENST00000958755.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "N",
"aa_start": 1036,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6381,
"cdna_start": 3255,
"cds_end": null,
"cds_length": 3264,
"cds_start": 3108,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000958748.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3108C>T",
"hgvs_p": "p.Asn1036Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628807.1",
"strand": true,
"transcript": "ENST00000958748.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 983,
"aa_ref": "N",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6102,
"cdna_start": 2975,
"cds_end": null,
"cds_length": 2952,
"cds_start": 2796,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000958747.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.2796C>T",
"hgvs_p": "p.Asn932Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628806.1",
"strand": true,
"transcript": "ENST00000958747.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "N",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6995,
"cdna_start": 3866,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3114,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_005265743.2",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Asn1038Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005265800.1",
"strand": true,
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}