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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-101403819-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101403819&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GLA",
"hgnc_id": 4296,
"hgvs_c": "c.484G>C",
"hgvs_p": "p.Ala162Pro",
"inheritance_mode": "XL",
"pathogenic_score": 21,
"score": 21,
"transcript": "NM_001406747.1",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RPL36A-HNRNPH2",
"hgnc_id": 48349,
"hgvs_c": "c.301-8117C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_001199973.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 21,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8761,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.76,
"chr": "X",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Fabry disease",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9875141382217407,
"computational_source_selected": "CardioboostCm",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 429,
"aa_ref": "A",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1318,
"cdna_start": 383,
"cds_end": null,
"cds_length": 1290,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_000169.3",
"gene_hgnc_id": 4296,
"gene_symbol": "GLA",
"hgvs_c": "c.361G>C",
"hgvs_p": "p.Ala121Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000218516.4",
"protein_coding": true,
"protein_id": "NP_000160.1",
"strand": false,
"transcript": "NM_000169.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 429,
"aa_ref": "A",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1318,
"cdna_start": 383,
"cds_end": null,
"cds_length": 1290,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000218516.4",
"gene_hgnc_id": 4296,
"gene_symbol": "GLA",
"hgvs_c": "c.361G>C",
"hgvs_p": "p.Ala121Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000169.3",
"protein_coding": true,
"protein_id": "ENSP00000218516.4",
"strand": false,
"transcript": "ENST00000218516.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 118,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 562,
"cdna_start": null,
"cds_end": null,
"cds_length": 357,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409170.3",
"gene_hgnc_id": 48349,
"gene_symbol": "RPL36A-HNRNPH2",
"hgvs_c": "c.301-8117C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386655.4",
"strand": true,
"transcript": "ENST00000409170.3",
"transcript_support_level": 4
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 470,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1441,
"cdna_start": 506,
"cds_end": null,
"cds_length": 1413,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001406747.1",
"gene_hgnc_id": 4296,
"gene_symbol": "GLA",
"hgvs_c": "c.484G>C",
"hgvs_p": "p.Ala162Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393676.1",
"strand": false,
"transcript": "NM_001406747.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 470,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1424,
"cdna_start": 493,
"cds_end": null,
"cds_length": 1413,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000649178.1",
"gene_hgnc_id": 4296,
"gene_symbol": "GLA",
"hgvs_c": "c.484G>C",
"hgvs_p": "p.Ala162Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498186.1",
"strand": false,
"transcript": "ENST00000649178.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 454,
"aa_ref": "A",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1743,
"cdna_start": 458,
"cds_end": null,
"cds_length": 1365,
"cds_start": 436,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000710365.1",
"gene_hgnc_id": 4296,
"gene_symbol": "GLA",
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Ala146Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518234.1",
"strand": false,
"transcript": "ENST00000710365.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 417,
"aa_ref": "A",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1254,
"cdna_start": 361,
"cds_end": null,
"cds_length": 1254,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000676156.1",
"gene_hgnc_id": 4296,
"gene_symbol": "GLA",
"hgvs_c": "c.361G>C",
"hgvs_p": "p.Ala121Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501730.1",
"strand": false,
"transcript": "ENST00000676156.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 363,
"aa_ref": "A",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1092,
"cdna_start": 361,
"cds_end": null,
"cds_length": 1092,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000675592.1",
"gene_hgnc_id": 4296,
"gene_symbol": "GLA",
"hgvs_c": "c.361G>C",
"hgvs_p": "p.Ala121Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502239.1",
"strand": false,
"transcript": "ENST00000675592.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 362,
"aa_ref": "A",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1164,
"cdna_start": 383,
"cds_end": null,
"cds_length": 1089,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001406748.1",
"gene_hgnc_id": 4296,
"gene_symbol": "GLA",
"hgvs_c": "c.361G>C",
"hgvs_p": "p.Ala121Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393677.1",
"strand": false,
"transcript": "NM_001406748.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 362,
"aa_ref": "A",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1089,
"cdna_start": 361,
"cds_end": null,
"cds_length": 1089,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000674634.2",
"gene_hgnc_id": 4296,
"gene_symbol": "GLA",
"hgvs_c": "c.361G>C",
"hgvs_p": "p.Ala121Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502629.2",
"strand": false,
"transcript": "ENST00000674634.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 252,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1510,
"cdna_start": 506,
"cds_end": null,
"cds_length": 759,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001406749.1",
"gene_hgnc_id": 4296,
"gene_symbol": "GLA",
"hgvs_c": "c.484G>C",
"hgvs_p": "p.Ala162Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393678.1",
"strand": false,
"transcript": "NM_001406749.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 118,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2531,
"cdna_start": null,
"cds_end": null,
"cds_length": 357,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001199973.2",
"gene_hgnc_id": 48349,
"gene_symbol": "RPL36A-HNRNPH2",
"hgvs_c": "c.301-8117C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186902.2",
"strand": true,
"transcript": "NM_001199973.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 77,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": null,
"cds_end": null,
"cds_length": 234,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001199974.2",
"gene_hgnc_id": 48349,
"gene_symbol": "RPL36A-HNRNPH2",
"hgvs_c": "c.178-8117C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186903.2",
"strand": true,
"transcript": "NM_001199974.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 77,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 572,
"cdna_start": null,
"cds_end": null,
"cds_length": 234,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409338.5",
"gene_hgnc_id": 48349,
"gene_symbol": "RPL36A-HNRNPH2",
"hgvs_c": "c.178-8117C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386974.2",
"strand": true,
"transcript": "ENST00000409338.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1431,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000466414.2",
"gene_hgnc_id": 4296,
"gene_symbol": "GLA",
"hgvs_c": "n.280G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000466414.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3748,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000468823.2",
"gene_hgnc_id": 4296,
"gene_symbol": "GLA",
"hgvs_c": "n.422G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000468823.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000479445.2",
"gene_hgnc_id": 4296,
"gene_symbol": "GLA",
"hgvs_c": "n.359G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000479445.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1180,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000480513.6",
"gene_hgnc_id": 4296,
"gene_symbol": "GLA",
"hgvs_c": "n.361G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497055.1",
"strand": false,
"transcript": "ENST00000480513.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1300,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000486121.7",
"gene_hgnc_id": 4296,
"gene_symbol": "GLA",
"hgvs_c": "n.361G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501124.2",
"strand": false,
"transcript": "ENST00000486121.7",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1358,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000493905.6",
"gene_hgnc_id": 4296,
"gene_symbol": "GLA",
"hgvs_c": "n.361G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476935.1",
"strand": false,
"transcript": "ENST00000493905.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1474,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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