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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: 21-44229040-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=44229040&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ICOSLG",
"hgnc_id": 17087,
"hgvs_c": "c.903C>T",
"hgvs_p": "p.His301His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_015259.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -7,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "21",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 302,
"aa_ref": "H",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7078,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 909,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_015259.6",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.903C>T",
"hgvs_p": "p.His301His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000407780.8",
"protein_coding": true,
"protein_id": "NP_056074.1",
"strand": false,
"transcript": "NM_015259.6",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 302,
"aa_ref": "H",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7078,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 909,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000407780.8",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.903C>T",
"hgvs_p": "p.His301His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015259.6",
"protein_coding": true,
"protein_id": "ENSP00000384432.3",
"strand": false,
"transcript": "ENST00000407780.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 473,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4317,
"cdna_start": null,
"cds_end": null,
"cds_length": 1422,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000400379.8",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.*490C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383230.3",
"strand": false,
"transcript": "ENST00000400379.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 309,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1470,
"cdna_start": null,
"cds_end": null,
"cds_length": 930,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000344330.9",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.898+1014C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339477.4",
"strand": false,
"transcript": "ENST00000344330.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 314,
"aa_ref": "H",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3290,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 945,
"cds_start": 939,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867614.1",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.939C>T",
"hgvs_p": "p.His313His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537673.1",
"strand": false,
"transcript": "ENST00000867614.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 275,
"aa_ref": "H",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7414,
"cdna_start": 1365,
"cds_end": null,
"cds_length": 828,
"cds_start": 822,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001365759.2",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.822C>T",
"hgvs_p": "p.His274His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352688.1",
"strand": false,
"transcript": "NM_001365759.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 261,
"aa_ref": "H",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3103,
"cdna_start": 914,
"cds_end": null,
"cds_length": 786,
"cds_start": 780,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000700352.1",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.780C>T",
"hgvs_p": "p.His260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514956.1",
"strand": false,
"transcript": "ENST00000700352.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 217,
"aa_ref": "H",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6926,
"cdna_start": 877,
"cds_end": null,
"cds_length": 654,
"cds_start": 648,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001283052.2",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.648C>T",
"hgvs_p": "p.His216His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269981.1",
"strand": false,
"transcript": "NM_001283052.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 217,
"aa_ref": "H",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2558,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 654,
"cds_start": 648,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000700358.1",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.648C>T",
"hgvs_p": "p.His216His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514960.1",
"strand": false,
"transcript": "ENST00000700358.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 185,
"aa_ref": "H",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6727,
"cdna_start": 678,
"cds_end": null,
"cds_length": 558,
"cds_start": 552,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001283051.2",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.552C>T",
"hgvs_p": "p.His184His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269980.1",
"strand": false,
"transcript": "NM_001283051.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 185,
"aa_ref": "H",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3387,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 558,
"cds_start": 552,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000400377.4",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.552C>T",
"hgvs_p": "p.His184His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383228.3",
"strand": false,
"transcript": "ENST00000400377.4",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 88,
"aa_ref": "H",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 923,
"cdna_start": 409,
"cds_end": null,
"cds_length": 267,
"cds_start": 261,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000867615.1",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.261C>T",
"hgvs_p": "p.His87His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537674.1",
"strand": false,
"transcript": "ENST00000867615.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 303,
"aa_ref": "H",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7322,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 912,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047440731.1",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.906C>T",
"hgvs_p": "p.His302His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296687.1",
"strand": false,
"transcript": "XM_047440731.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 275,
"aa_ref": "H",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7037,
"cdna_start": 988,
"cds_end": null,
"cds_length": 828,
"cds_start": 822,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047440732.1",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.822C>T",
"hgvs_p": "p.His274His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296688.1",
"strand": false,
"transcript": "XM_047440732.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 304,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7580,
"cdna_start": null,
"cds_end": null,
"cds_length": 915,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001395918.1",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.*490C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382847.1",
"strand": false,
"transcript": "NM_001395918.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 304,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3089,
"cdna_start": null,
"cds_end": null,
"cds_length": 915,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000700355.1",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.*490C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514957.1",
"strand": false,
"transcript": "ENST00000700355.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 361,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3887,
"cdna_start": null,
"cds_end": null,
"cds_length": 1086,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643466.2",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.898+1014C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494882.2",
"strand": false,
"transcript": "ENST00000643466.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1112,
"cdna_start": null,
"cds_end": null,
"cds_length": 930,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001283050.2",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.898+1014C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269979.1",
"strand": false,
"transcript": "NM_001283050.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 362,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2256,
"cdna_start": null,
"cds_end": null,
"cds_length": 1089,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047440729.1",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.901+1014C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296685.1",
"strand": false,
"transcript": "XM_047440729.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 361,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2288,
"cdna_start": null,
"cds_end": null,
"cds_length": 1086,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011529514.4",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.898+1014C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527816.1",
"strand": false,
"transcript": "XM_011529514.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 334,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": null,
"cds_end": null,
"cds_length": 1005,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011529516.4",
"gene_hgnc_id": 17087,
"gene_symbol": "ICOSLG",
"hgvs_c": "c.817+1014C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527818.1",
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