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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: X-101398032-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101398032&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 101398032,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000218516.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.1067G>C",
"hgvs_p": "p.Arg356Pro",
"transcript": "NM_000169.3",
"protein_id": "NP_000160.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 429,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": "ENST00000218516.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.1067G>C",
"hgvs_p": "p.Arg356Pro",
"transcript": "ENST00000218516.4",
"protein_id": "ENSP00000218516.4",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 429,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": "NM_000169.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPL36A-HNRNPH2",
"gene_hgnc_id": 48349,
"hgvs_c": "c.300+2575C>G",
"hgvs_p": null,
"transcript": "ENST00000409170.3",
"protein_id": "ENSP00000386655.4",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.1190G>C",
"hgvs_p": "p.Arg397Pro",
"transcript": "NM_001406747.1",
"protein_id": "NP_001393676.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 470,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 1441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.1190G>C",
"hgvs_p": "p.Arg397Pro",
"transcript": "ENST00000649178.1",
"protein_id": "ENSP00000498186.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 470,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.1142G>C",
"hgvs_p": "p.Arg381Pro",
"transcript": "ENST00000710365.1",
"protein_id": "ENSP00000518234.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 454,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.1031G>C",
"hgvs_p": "p.Arg344Pro",
"transcript": "ENST00000676156.1",
"protein_id": "ENSP00000501730.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 417,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.869G>C",
"hgvs_p": "p.Arg290Pro",
"transcript": "ENST00000675592.1",
"protein_id": "ENSP00000502239.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 363,
"cds_start": 869,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 1092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.509G>C",
"hgvs_p": "p.Arg170Pro",
"transcript": "XM_047441990.1",
"protein_id": "XP_047297946.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 243,
"cds_start": 509,
"cds_end": null,
"cds_length": 732,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.1203G>C",
"hgvs_p": null,
"transcript": "ENST00000466414.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.2489G>C",
"hgvs_p": null,
"transcript": "ENST00000468823.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.1681G>C",
"hgvs_p": null,
"transcript": "ENST00000479445.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.*375G>C",
"hgvs_p": null,
"transcript": "ENST00000480513.6",
"protein_id": "ENSP00000497055.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.*513G>C",
"hgvs_p": null,
"transcript": "ENST00000486121.7",
"protein_id": "ENSP00000501124.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.*455G>C",
"hgvs_p": null,
"transcript": "ENST00000493905.6",
"protein_id": "ENSP00000476935.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.*570G>C",
"hgvs_p": null,
"transcript": "ENST00000674127.2",
"protein_id": "ENSP00000501044.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.1371G>C",
"hgvs_p": null,
"transcript": "ENST00000674142.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.*592G>C",
"hgvs_p": null,
"transcript": "ENST00000675799.1",
"protein_id": "ENSP00000502661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.3938G>C",
"hgvs_p": null,
"transcript": "ENST00000675968.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.*320G>C",
"hgvs_p": null,
"transcript": "ENST00000676372.1",
"protein_id": "ENSP00000502805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.1146G>C",
"hgvs_p": null,
"transcript": "NR_164783.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.997G>C",
"hgvs_p": null,
"transcript": "NR_176252.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.1204G>C",
"hgvs_p": null,
"transcript": "NR_176253.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
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}
],
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"hom_count_reference_population": 0,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "CardioboostCm",
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"splice_prediction_selected": "Benign",
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"revel_score": 0.52,
"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Benign",
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{
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"PM2",
"PM5",
"PP2",
"PP3",
"PP5_Moderate"
],
"verdict": "Pathogenic",
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],
"inheritance_mode": "XL",
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{
"score": 5,
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"PP3",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
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],
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}
],
"clinvar_disease": "Fabry disease,Migalastat response",
"clinvar_classification": " drug response,Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Fabry disease|Migalastat response",
"pathogenicity_classification_combined": "Pathogenic; drug response",
"custom_annotations": null
}
],
"message": null
}