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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: 4-54290397-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=54290397&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 54290397,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001347828.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Ile989Leu",
"transcript": "NM_006206.6",
"protein_id": "NP_006197.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3100,
"cdna_end": null,
"cdna_length": 6378,
"mane_select": "ENST00000257290.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006206.6"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Ile989Leu",
"transcript": "ENST00000257290.10",
"protein_id": "ENSP00000257290.5",
"transcript_support_level": 1,
"aa_start": 989,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3100,
"cdna_end": null,
"cdna_length": 6378,
"mane_select": "NM_006206.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257290.10"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282278",
"gene_hgnc_id": null,
"hgvs_c": "c.2245A>C",
"hgvs_p": "p.Ile749Leu",
"transcript": "ENST00000507166.5",
"protein_id": "ENSP00000423325.1",
"transcript_support_level": 2,
"aa_start": 749,
"aa_end": null,
"aa_length": 849,
"cds_start": 2245,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 2245,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507166.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.3040A>C",
"hgvs_p": "p.Ile1014Leu",
"transcript": "NM_001347828.2",
"protein_id": "NP_001334757.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1114,
"cds_start": 3040,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 3178,
"cdna_end": null,
"cdna_length": 6456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347828.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.3004A>C",
"hgvs_p": "p.Ile1002Leu",
"transcript": "NM_001347830.2",
"protein_id": "NP_001334759.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1102,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 3516,
"cdna_end": null,
"cdna_length": 6794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347830.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Ile989Leu",
"transcript": "NM_001347829.2",
"protein_id": "NP_001334758.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3321,
"cdna_end": null,
"cdna_length": 6599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347829.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Ile989Leu",
"transcript": "ENST00000870889.1",
"protein_id": "ENSP00000540948.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3170,
"cdna_end": null,
"cdna_length": 6448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870889.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Ile989Leu",
"transcript": "ENST00000870890.1",
"protein_id": "ENSP00000540949.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3350,
"cdna_end": null,
"cdna_length": 6627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870890.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Ile989Leu",
"transcript": "ENST00000958745.1",
"protein_id": "ENSP00000628804.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3502,
"cdna_end": null,
"cdna_length": 6778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958745.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Ile989Leu",
"transcript": "ENST00000958746.1",
"protein_id": "ENSP00000628805.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3711,
"cdna_end": null,
"cdna_length": 6988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958746.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Ile989Leu",
"transcript": "ENST00000958749.1",
"protein_id": "ENSP00000628808.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3169,
"cdna_end": null,
"cdna_length": 6448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958749.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Ile989Leu",
"transcript": "ENST00000958750.1",
"protein_id": "ENSP00000628809.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3063,
"cdna_end": null,
"cdna_length": 6341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958750.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Ile989Leu",
"transcript": "ENST00000958751.1",
"protein_id": "ENSP00000628810.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3246,
"cdna_end": null,
"cdna_length": 6523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958751.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Ile989Leu",
"transcript": "ENST00000958752.1",
"protein_id": "ENSP00000628811.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3095,
"cdna_end": null,
"cdna_length": 6370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958752.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Ile989Leu",
"transcript": "ENST00000958753.1",
"protein_id": "ENSP00000628812.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3622,
"cdna_end": null,
"cdna_length": 6000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958753.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Ile989Leu",
"transcript": "ENST00000958754.1",
"protein_id": "ENSP00000628813.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 4754,
"cdna_end": null,
"cdna_length": 8031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958754.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Ile989Leu",
"transcript": "ENST00000958755.1",
"protein_id": "ENSP00000628814.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3924,
"cdna_end": null,
"cdna_length": 7203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958755.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2959A>C",
"hgvs_p": "p.Ile987Leu",
"transcript": "ENST00000958748.1",
"protein_id": "ENSP00000628807.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2959,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 3106,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958748.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2647A>C",
"hgvs_p": "p.Ile883Leu",
"transcript": "ENST00000958747.1",
"protein_id": "ENSP00000628806.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 983,
"cds_start": 2647,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 2826,
"cdna_end": null,
"cdna_length": 6102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958747.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Ile989Leu",
"transcript": "XM_005265743.2",
"protein_id": "XP_005265800.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3717,
"cdna_end": null,
"cdna_length": 6995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265743.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Ile989Leu",
"transcript": "XM_047415766.1",
"protein_id": "XP_047271722.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3180,
"cdna_end": null,
"cdna_length": 6458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415766.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Ile989Leu",
"transcript": "XM_047415767.1",
"protein_id": "XP_047271723.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2965,
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"cds_length": 3270,
"cdna_start": 3483,
"cdna_end": null,
"cdna_length": 6761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415767.1"
}
],
"gene_symbol": "PDGFRA",
"gene_hgnc_id": 8803,
"dbsnp": "rs145019788",
"frequency_reference_population": 0.000005576989,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.0000054741,
"gnomad_genomes_af": 0.00000656401,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08313128352165222,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.114,
"revel_prediction": "Benign",
"alphamissense_score": 0.0782,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.595,
"phylop100way_prediction": "Benign",
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001347828.2",
"gene_symbol": "PDGFRA",
"hgnc_id": 8803,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.3040A>C",
"hgvs_p": "p.Ile1014Leu"
},
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000507166.5",
"gene_symbol": "ENSG00000282278",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2245A>C",
"hgvs_p": "p.Ile749Leu"
}
],
"clinvar_disease": "Gastrointestinal stromal tumor,Hereditary cancer-predisposing syndrome",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:1",
"phenotype_combined": "Gastrointestinal stromal tumor|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}