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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: 2-203439491-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=203439491&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 203439491,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000319170.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.3699C>T",
"hgvs_p": "p.Pro1233Pro",
"transcript": "NM_213589.3",
"protein_id": "NP_998754.1",
"transcript_support_level": null,
"aa_start": 1233,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3699,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 3890,
"cdna_end": null,
"cdna_length": 9699,
"mane_select": "ENST00000319170.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.3699C>T",
"hgvs_p": "p.Pro1233Pro",
"transcript": "ENST00000319170.10",
"protein_id": "ENSP00000316543.5",
"transcript_support_level": 1,
"aa_start": 1233,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3699,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 3890,
"cdna_end": null,
"cdna_length": 9699,
"mane_select": "NM_213589.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.*12139G>A",
"hgvs_p": null,
"transcript": "ENST00000295851.10",
"protein_id": "ENSP00000295851.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 513,
"cds_start": -4,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 22039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.3855C>T",
"hgvs_p": "p.Pro1285Pro",
"transcript": "NM_001439019.1",
"protein_id": "NP_001425948.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3855,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 4046,
"cdna_end": null,
"cdna_length": 9855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.3855C>T",
"hgvs_p": "p.Pro1285Pro",
"transcript": "ENST00000374493.7",
"protein_id": "ENSP00000363617.3",
"transcript_support_level": 5,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3855,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 3855,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.3855C>T",
"hgvs_p": "p.Pro1285Pro",
"transcript": "ENST00000630330.2",
"protein_id": "ENSP00000486548.1",
"transcript_support_level": 5,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3855,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 4080,
"cdna_end": null,
"cdna_length": 4134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.3780C>T",
"hgvs_p": "p.Pro1260Pro",
"transcript": "NM_001439027.1",
"protein_id": "NP_001425956.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1277,
"cds_start": 3780,
"cds_end": null,
"cds_length": 3834,
"cdna_start": 3971,
"cdna_end": null,
"cdna_length": 9780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.3774C>T",
"hgvs_p": "p.Pro1258Pro",
"transcript": "NM_001439024.1",
"protein_id": "NP_001425953.1",
"transcript_support_level": null,
"aa_start": 1258,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3774,
"cds_end": null,
"cds_length": 3828,
"cdna_start": 3965,
"cdna_end": null,
"cdna_length": 9774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.3774C>T",
"hgvs_p": "p.Pro1258Pro",
"transcript": "NM_001439030.1",
"protein_id": "NP_001425959.1",
"transcript_support_level": null,
"aa_start": 1258,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3774,
"cds_end": null,
"cds_length": 3828,
"cdna_start": 4046,
"cdna_end": null,
"cdna_length": 9855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.3699C>T",
"hgvs_p": "p.Pro1233Pro",
"transcript": "NM_001439031.1",
"protein_id": "NP_001425960.1",
"transcript_support_level": null,
"aa_start": 1233,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3699,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 3971,
"cdna_end": null,
"cdna_length": 9780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.3927C>T",
"hgvs_p": "p.Pro1309Pro",
"transcript": "XM_047445538.1",
"protein_id": "XP_047301494.1",
"transcript_support_level": null,
"aa_start": 1309,
"aa_end": null,
"aa_length": 1326,
"cds_start": 3927,
"cds_end": null,
"cds_length": 3981,
"cdna_start": 3950,
"cdna_end": null,
"cdna_length": 9759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.3855C>T",
"hgvs_p": "p.Pro1285Pro",
"transcript": "XM_006712695.4",
"protein_id": "XP_006712758.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3855,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 4803,
"cdna_end": null,
"cdna_length": 10612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.3855C>T",
"hgvs_p": "p.Pro1285Pro",
"transcript": "XM_011511646.4",
"protein_id": "XP_011509948.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3855,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 4127,
"cdna_end": null,
"cdna_length": 9936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.3855C>T",
"hgvs_p": "p.Pro1285Pro",
"transcript": "XM_047445539.1",
"protein_id": "XP_047301495.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3855,
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"cdna_start": 4250,
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"cdna_length": 10059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.3855C>T",
"hgvs_p": "p.Pro1285Pro",
"transcript": "XM_047445540.1",
"protein_id": "XP_047301496.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3855,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 4031,
"cdna_end": null,
"cdna_length": 9840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.3855C>T",
"hgvs_p": "p.Pro1285Pro",
"transcript": "XM_047445541.1",
"protein_id": "XP_047301497.1",
"transcript_support_level": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.3852C>T",
"hgvs_p": "p.Pro1284Pro",
"transcript": "XM_047445542.1",
"protein_id": "XP_047301498.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1301,
"cds_start": 3852,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 3875,
"cdna_end": null,
"cdna_length": 9684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.3846C>T",
"hgvs_p": "p.Pro1282Pro",
"transcript": "XM_047445543.1",
"protein_id": "XP_047301499.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3846,
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"cds_length": 3900,
"cdna_start": 3869,
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"cdna_length": 9678,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.3771C>T",
"hgvs_p": "p.Pro1257Pro",
"transcript": "XM_047445547.1",
"protein_id": "XP_047301503.1",
"transcript_support_level": null,
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.2295C>T",
"hgvs_p": "p.Pro765Pro",
"transcript": "XM_047445549.1",
"protein_id": "XP_047301505.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 782,
"cds_start": 2295,
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"cds_length": 2349,
"cdna_start": 2527,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.1776+5377C>T",
"hgvs_p": null,
"transcript": "ENST00000457812.5",
"protein_id": "ENSP00000392854.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": -4,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"dbsnp": "rs2465520",
"frequency_reference_population": 0.11395015,
"hom_count_reference_population": 12513,
"allele_count_reference_population": 183885,
"gnomad_exomes_af": 0.109513,
"gnomad_genomes_af": 0.156586,
"gnomad_exomes_ac": 160068,
"gnomad_genomes_ac": 23817,
"gnomad_exomes_homalt": 9909,
"gnomad_genomes_homalt": 2604,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.957,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000319170.10",
"gene_symbol": "RAPH1",
"hgnc_id": 14436,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3699C>T",
"hgvs_p": "p.Pro1233Pro"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000295851.10",
"gene_symbol": "ABI2",
"hgnc_id": 24011,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*12139G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}