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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: 12-124800125-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=124800125&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "SCARB1",
"hgnc_id": 1664,
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Pro376Arg",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001367981.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000287242",
"hgnc_id": null,
"hgvs_c": "n.1126-7485G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000657226.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.6291,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.35,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9847961664199829,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 509,
"aa_ref": "P",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3405,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1127,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_005505.5",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Pro376Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261693.11",
"protein_coding": true,
"protein_id": "NP_005496.4",
"strand": false,
"transcript": "NM_005505.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 509,
"aa_ref": "P",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3405,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1127,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000261693.11",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Pro376Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005505.5",
"protein_coding": true,
"protein_id": "ENSP00000261693.6",
"strand": false,
"transcript": "ENST00000261693.11",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 481,
"aa_ref": "P",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1597,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1127,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000546215.5",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Pro376Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442862.1",
"strand": false,
"transcript": "ENST00000546215.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1845,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000535005.5",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "n.1442C>G",
"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": "ENST00000535005.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 552,
"aa_ref": "P",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3526,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 1659,
"cds_start": 1127,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001367981.1",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Pro376Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354910.1",
"strand": false,
"transcript": "NM_001367981.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 552,
"aa_ref": "P",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 1659,
"cds_start": 1127,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000415380.6",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Pro376Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414979.2",
"strand": false,
"transcript": "ENST00000415380.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 549,
"aa_ref": "P",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2751,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1247,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000877834.1",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1247C>G",
"hgvs_p": "p.Pro416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547893.1",
"strand": false,
"transcript": "ENST00000877834.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 512,
"aa_ref": "P",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1004,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001367982.1",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1004C>G",
"hgvs_p": "p.Pro335Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354911.1",
"strand": false,
"transcript": "NM_001367982.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 511,
"aa_ref": "P",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3411,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1127,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001367983.1",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Pro376Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354912.1",
"strand": false,
"transcript": "NM_001367983.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 511,
"aa_ref": "P",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2668,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1127,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000877833.1",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Pro376Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547892.1",
"strand": false,
"transcript": "ENST00000877833.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 509,
"aa_ref": "P",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3416,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1127,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001367989.1",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Pro376Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354918.1",
"strand": false,
"transcript": "NM_001367989.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 509,
"aa_ref": "P",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2736,
"cdna_start": 1363,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1127,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000877826.1",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Pro376Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547885.1",
"strand": false,
"transcript": "ENST00000877826.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 509,
"aa_ref": "P",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 1272,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1127,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000877835.1",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Pro376Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547894.1",
"strand": false,
"transcript": "ENST00000877835.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 509,
"aa_ref": "P",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2440,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1127,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000964694.1",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Pro376Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634753.1",
"strand": false,
"transcript": "ENST00000964694.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 508,
"aa_ref": "P",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3402,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1127,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001367984.1",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Pro376Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354913.1",
"strand": false,
"transcript": "NM_001367984.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 508,
"aa_ref": "P",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2703,
"cdna_start": 1349,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1127,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000877829.1",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Pro376Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547888.1",
"strand": false,
"transcript": "ENST00000877829.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 507,
"aa_ref": "P",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2516,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1121,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000877837.1",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1121C>G",
"hgvs_p": "p.Pro374Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547896.1",
"strand": false,
"transcript": "ENST00000877837.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 506,
"aa_ref": "P",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3276,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1127,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001082959.2",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Pro376Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001076428.1",
"strand": false,
"transcript": "NM_001082959.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 506,
"aa_ref": "P",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1127,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000339570.9",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Pro376Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343795.4",
"strand": false,
"transcript": "ENST00000339570.9",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 501,
"aa_ref": "P",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3381,
"cdna_start": 1247,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1103,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001367985.1",
"gene_hgnc_id": 1664,
"gene_symbol": "SCARB1",
"hgvs_c": "c.1103C>G",
"hgvs_p": "p.Pro368Arg",
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