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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: 4-54290502-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=54290502&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PDGFRA",
"hgnc_id": 8803,
"hgvs_c": "c.3145G>C",
"hgvs_p": "p.Asp1049His",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001347828.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000282278",
"hgnc_id": null,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Asp784His",
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000507166.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9802,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7684187889099121,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "D",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6378,
"cdna_start": 3205,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3070,
"consequences": [
"missense_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.3070G>C",
"hgvs_p": "p.Asp1024His",
"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": "H",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "D",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6378,
"cdna_start": 3205,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3070,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000257290.10",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3070G>C",
"hgvs_p": "p.Asp1024His",
"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": "H",
"aa_end": null,
"aa_length": 849,
"aa_ref": "D",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2550,
"cdna_start": 2350,
"cds_end": null,
"cds_length": 2550,
"cds_start": 2350,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000507166.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000282278",
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Asp784His",
"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": "H",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "D",
"aa_start": 1049,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6456,
"cdna_start": 3283,
"cds_end": null,
"cds_length": 3345,
"cds_start": 3145,
"consequences": [
"missense_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.3145G>C",
"hgvs_p": "p.Asp1049His",
"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": "H",
"aa_end": null,
"aa_length": 1102,
"aa_ref": "D",
"aa_start": 1037,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6794,
"cdna_start": 3621,
"cds_end": null,
"cds_length": 3309,
"cds_start": 3109,
"consequences": [
"missense_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.3109G>C",
"hgvs_p": "p.Asp1037His",
"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": "H",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "D",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6599,
"cdna_start": 3426,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3070,
"consequences": [
"missense_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.3070G>C",
"hgvs_p": "p.Asp1024His",
"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": "H",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "D",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6448,
"cdna_start": 3275,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3070,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000870889.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3070G>C",
"hgvs_p": "p.Asp1024His",
"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": "H",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "D",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6627,
"cdna_start": 3455,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3070,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000870890.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3070G>C",
"hgvs_p": "p.Asp1024His",
"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": "H",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "D",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6778,
"cdna_start": 3607,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3070,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000958745.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3070G>C",
"hgvs_p": "p.Asp1024His",
"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": "H",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "D",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6988,
"cdna_start": 3816,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3070,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000958746.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3070G>C",
"hgvs_p": "p.Asp1024His",
"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": "H",
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"aa_length": 1089,
"aa_ref": "D",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6448,
"cdna_start": 3274,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3070,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000958749.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3070G>C",
"hgvs_p": "p.Asp1024His",
"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": "H",
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"aa_length": 1089,
"aa_ref": "D",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6341,
"cdna_start": 3168,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3070,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000958750.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3070G>C",
"hgvs_p": "p.Asp1024His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628809.1",
"strand": true,
"transcript": "ENST00000958750.1",
"transcript_support_level": null
},
{
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"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6523,
"cdna_start": 3351,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3070,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000958751.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3070G>C",
"hgvs_p": "p.Asp1024His",
"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": "H",
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"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6370,
"cdna_start": 3200,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3070,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000958752.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3070G>C",
"hgvs_p": "p.Asp1024His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628811.1",
"strand": true,
"transcript": "ENST00000958752.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6000,
"cdna_start": 3727,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3070,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000958753.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3070G>C",
"hgvs_p": "p.Asp1024His",
"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": "H",
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"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8031,
"cdna_start": 4859,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3070,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000958754.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3070G>C",
"hgvs_p": "p.Asp1024His",
"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
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 4029,
"cds_end": null,
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"cds_start": 3070,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000958755.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3070G>C",
"hgvs_p": "p.Asp1024His",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000628814.1",
"strand": true,
"transcript": "ENST00000958755.1",
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},
{
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"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6381,
"cdna_start": 3211,
"cds_end": null,
"cds_length": 3264,
"cds_start": 3064,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000958748.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.3064G>C",
"hgvs_p": "p.Asp1022His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628807.1",
"strand": true,
"transcript": "ENST00000958748.1",
"transcript_support_level": null
},
{
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"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 2931,
"cds_end": null,
"cds_length": 2952,
"cds_start": 2752,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000958747.1",
"gene_hgnc_id": 8803,
"gene_symbol": "PDGFRA",
"hgvs_c": "c.2752G>C",
"hgvs_p": "p.Asp918His",
"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": "H",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "D",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6995,
"cdna_start": 3822,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3070,
"consequences": [
"missense_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.3070G>C",
"hgvs_p": "p.Asp1024His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005265800.1",
"strand": true,
"transcript": "XM_005265743.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "D",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6458,
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