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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: 17-82942462-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82942462&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"stop_retained_variant"
],
"gene_symbol": "TBCD",
"hgnc_id": 11581,
"hgvs_c": "c.3578G>A",
"hgvs_p": "p.Ter1193Ter",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_005993.5",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "QTGAL",
"hgnc_id": 21727,
"hgvs_c": "c.*1612C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -4,
"transcript": "NM_001320742.2",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "B3GNTL1",
"hgnc_id": 21727,
"hgvs_c": "c.*1612C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -4,
"transcript": "ENST00000320865.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"chr": "17",
"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": -0.7400000095367432,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "*",
"aa_start": 1193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7159,
"cdna_start": 3707,
"cds_end": null,
"cds_length": 3579,
"cds_start": 3578,
"consequences": [
"stop_retained_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_005993.5",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.3578G>A",
"hgvs_p": "p.Ter1193Ter",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355528.9",
"protein_coding": true,
"protein_id": "NP_005984.3",
"strand": true,
"transcript": "NM_005993.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "*",
"aa_start": 1193,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7159,
"cdna_start": 3707,
"cds_end": null,
"cds_length": 3579,
"cds_start": 3578,
"consequences": [
"stop_retained_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000355528.9",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.3578G>A",
"hgvs_p": "p.Ter1193Ter",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005993.5",
"protein_coding": true,
"protein_id": "ENSP00000347719.4",
"strand": true,
"transcript": "ENST00000355528.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2985,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001009905.3",
"gene_hgnc_id": 21727,
"gene_symbol": "QTGAL",
"hgvs_c": "c.*1612C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000320865.4",
"protein_coding": true,
"protein_id": "NP_001009905.2",
"strand": false,
"transcript": "NM_001009905.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2985,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000320865.4",
"gene_hgnc_id": 21727,
"gene_symbol": "B3GNTL1",
"hgvs_c": "c.*1612C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001009905.3",
"protein_coding": true,
"protein_id": "ENSP00000319979.4",
"strand": false,
"transcript": "ENST00000320865.4",
"transcript_support_level": 1
},
{
"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": 7166,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000576677.6",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "n.3728G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000576677.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1281,
"aa_ref": "*",
"aa_start": 1282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7403,
"cdna_start": 3965,
"cds_end": null,
"cds_length": 3846,
"cds_start": 3845,
"consequences": [
"stop_retained_variant"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000684760.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.3845G>A",
"hgvs_p": "p.Ter1282Ter",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507696.1",
"strand": true,
"transcript": "ENST00000684760.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1254,
"aa_ref": "*",
"aa_start": 1255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7322,
"cdna_start": 3884,
"cds_end": null,
"cds_length": 3765,
"cds_start": 3764,
"consequences": [
"stop_retained_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000684349.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.3764G>A",
"hgvs_p": "p.Ter1255Ter",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508067.1",
"strand": true,
"transcript": "ENST00000684349.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1230,
"aa_ref": "*",
"aa_start": 1231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3975,
"cdna_start": 3728,
"cds_end": null,
"cds_length": 3693,
"cds_start": 3692,
"consequences": [
"stop_retained_variant"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000539345.6",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.3692G>A",
"hgvs_p": "p.Ter1231Ter",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440671.2",
"strand": true,
"transcript": "ENST00000539345.6",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "*",
"aa_start": 1225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4253,
"cdna_start": 4003,
"cds_end": null,
"cds_length": 3675,
"cds_start": 3674,
"consequences": [
"stop_retained_variant"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000857311.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.3674G>A",
"hgvs_p": "p.Ter1225Ter",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527370.1",
"strand": true,
"transcript": "ENST00000857311.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "*",
"aa_start": 1224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7252,
"cdna_start": 3814,
"cds_end": null,
"cds_length": 3672,
"cds_start": 3671,
"consequences": [
"stop_retained_variant"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000684464.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.3671G>A",
"hgvs_p": "p.Ter1224Ter",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508333.1",
"strand": true,
"transcript": "ENST00000684464.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1222,
"aa_ref": "*",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7258,
"cdna_start": 3820,
"cds_end": null,
"cds_length": 3669,
"cds_start": 3668,
"consequences": [
"stop_retained_variant"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000682479.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.3668G>A",
"hgvs_p": "p.Ter1223Ter",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508214.1",
"strand": true,
"transcript": "ENST00000682479.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1220,
"aa_ref": "*",
"aa_start": 1221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7100,
"cdna_start": 3662,
"cds_end": null,
"cds_length": 3663,
"cds_start": 3662,
"consequences": [
"stop_retained_variant"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000684000.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.3662G>A",
"hgvs_p": "p.Ter1221Ter",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506795.1",
"strand": true,
"transcript": "ENST00000684000.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "*",
"aa_start": 1208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3999,
"cdna_start": 3752,
"cds_end": null,
"cds_length": 3624,
"cds_start": 3623,
"consequences": [
"stop_retained_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000959286.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.3623G>A",
"hgvs_p": "p.Ter1208Ter",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629345.1",
"strand": true,
"transcript": "ENST00000959286.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1203,
"aa_ref": "*",
"aa_start": 1204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3974,
"cdna_start": 3739,
"cds_end": null,
"cds_length": 3612,
"cds_start": 3611,
"consequences": [
"stop_retained_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000959289.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.3611G>A",
"hgvs_p": "p.Ter1204Ter",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629348.1",
"strand": true,
"transcript": "ENST00000959289.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1201,
"aa_ref": "*",
"aa_start": 1202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3967,
"cdna_start": 3725,
"cds_end": null,
"cds_length": 3606,
"cds_start": 3605,
"consequences": [
"stop_retained_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000857314.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.3605G>A",
"hgvs_p": "p.Ter1202Ter",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527373.1",
"strand": true,
"transcript": "ENST00000857314.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1199,
"aa_ref": "*",
"aa_start": 1200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4380,
"cdna_start": 3662,
"cds_end": null,
"cds_length": 3600,
"cds_start": 3599,
"consequences": [
"stop_retained_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000857310.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.3599G>A",
"hgvs_p": "p.Ter1200Ter",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527369.1",
"strand": true,
"transcript": "ENST00000857310.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1196,
"aa_ref": "*",
"aa_start": 1197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3956,
"cdna_start": 3719,
"cds_end": null,
"cds_length": 3591,
"cds_start": 3590,
"consequences": [
"stop_retained_variant"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000959287.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.3590G>A",
"hgvs_p": "p.Ter1197Ter",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629346.1",
"strand": true,
"transcript": "ENST00000959287.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "*",
"aa_start": 1193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7233,
"cdna_start": 3777,
"cds_end": null,
"cds_length": 3579,
"cds_start": 3578,
"consequences": [
"stop_retained_variant"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000915788.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.3578G>A",
"hgvs_p": "p.Ter1193Ter",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585847.1",
"strand": true,
"transcript": "ENST00000915788.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "*",
"aa_start": 1176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7108,
"cdna_start": 3656,
"cds_end": null,
"cds_length": 3528,
"cds_start": 3527,
"consequences": [
"stop_retained_variant"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001411101.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.3527G>A",
"hgvs_p": "p.Ter1176Ter",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398030.1",
"strand": true,
"transcript": "NM_001411101.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "*",
"aa_start": 1176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7111,
"cdna_start": 3673,
"cds_end": null,
"cds_length": 3528,
"cds_start": 3527,
"consequences": [
"stop_retained_variant"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000682722.1",
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{
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],
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"phenotype_combined": "not provided",
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}
]
}