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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: 1-202941617-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=202941617&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADIPOR1",
"hgnc_id": 24040,
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_015999.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 4,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9798,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8949555158615112,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2091,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_015999.6",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340990.10",
"protein_coding": true,
"protein_id": "NP_057083.2",
"strand": false,
"transcript": "NM_015999.6",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2091,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000340990.10",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015999.6",
"protein_coding": true,
"protein_id": "ENSP00000341785.5",
"strand": false,
"transcript": "ENST00000340990.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 171,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1116,
"cdna_start": null,
"cds_end": null,
"cds_length": 516,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000367254.7",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.*299C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356223.3",
"strand": false,
"transcript": "ENST00000367254.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": 1254,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001290553.2",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277482.1",
"strand": false,
"transcript": "NM_001290553.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2249,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001290557.1",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277486.1",
"strand": false,
"transcript": "NM_001290557.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2135,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001290629.1",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277558.1",
"strand": false,
"transcript": "NM_001290629.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2563,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000855702.1",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525761.1",
"strand": false,
"transcript": "ENST00000855702.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 1479,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000855703.1",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525762.1",
"strand": false,
"transcript": "ENST00000855703.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": 1468,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000855706.1",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525765.1",
"strand": false,
"transcript": "ENST00000855706.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000855707.1",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525766.1",
"strand": false,
"transcript": "ENST00000855707.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2392,
"cdna_start": 1607,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000855708.1",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525767.1",
"strand": false,
"transcript": "ENST00000855708.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2947,
"cdna_start": 2162,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000855710.1",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525769.1",
"strand": false,
"transcript": "ENST00000855710.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000940207.1",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610266.1",
"strand": false,
"transcript": "ENST00000940207.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2137,
"cdna_start": 1349,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942961.1",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613020.1",
"strand": false,
"transcript": "ENST00000942961.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2232,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000942962.1",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613021.1",
"strand": false,
"transcript": "ENST00000942962.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942965.1",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613024.1",
"strand": false,
"transcript": "ENST00000942965.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000942966.1",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613025.1",
"strand": false,
"transcript": "ENST00000942966.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2208,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000942967.1",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613026.1",
"strand": false,
"transcript": "ENST00000942967.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 373,
"aa_ref": "R",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": 1303,
"cds_end": null,
"cds_length": 1122,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940205.1",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610264.1",
"strand": false,
"transcript": "ENST00000940205.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 1365,
"cds_end": null,
"cds_length": 1119,
"cds_start": 1075,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942960.1",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
"hgvs_c": "c.1075C>T",
"hgvs_p": "p.Arg359Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613019.1",
"strand": false,
"transcript": "ENST00000942960.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 368,
"aa_ref": "R",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1989,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 1107,
"cds_start": 1063,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000855709.1",
"gene_hgnc_id": 24040,
"gene_symbol": "ADIPOR1",
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