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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: 16-270818-GC-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=270818&ref=GC&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RGS11",
"hgnc_id": 9993,
"hgvs_c": "c.992_993delGCinsCG",
"hgvs_p": "p.Ser331Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_183337.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "FAM234A",
"hgnc_id": 14163,
"hgvs_c": "n.*153-1064_*153-1063delGCinsCG",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000659283.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000286901",
"hgnc_id": null,
"hgvs_c": "n.279+1813_279+1814delGCinsCG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000412541.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 467,
"aa_ref": "S",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 1404,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_183337.3",
"gene_hgnc_id": 9993,
"gene_symbol": "RGS11",
"hgvs_c": "c.992_993delGCinsCG",
"hgvs_p": "p.Ser331Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397770.8",
"protein_coding": true,
"protein_id": "NP_899180.1",
"strand": false,
"transcript": "NM_183337.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 467,
"aa_ref": "S",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 1404,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397770.8",
"gene_hgnc_id": 9993,
"gene_symbol": "RGS11",
"hgvs_c": "c.992_993delGCinsCG",
"hgvs_p": "p.Ser331Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_183337.3",
"protein_coding": true,
"protein_id": "ENSP00000380876.3",
"strand": false,
"transcript": "ENST00000397770.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 456,
"aa_ref": "S",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1371,
"cdna_start": 960,
"cds_end": null,
"cds_length": 1371,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359740.6",
"gene_hgnc_id": 9993,
"gene_symbol": "RGS11",
"hgvs_c": "c.959_960delGCinsCG",
"hgvs_p": "p.Ser320Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352778.5",
"strand": false,
"transcript": "ENST00000359740.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 446,
"aa_ref": "S",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1341,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000316163.9",
"gene_hgnc_id": 9993,
"gene_symbol": "RGS11",
"hgvs_c": "c.929_930delGCinsCG",
"hgvs_p": "p.Ser310Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319069.5",
"strand": false,
"transcript": "ENST00000316163.9",
"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": 4294,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000477143.5",
"gene_hgnc_id": 9993,
"gene_symbol": "RGS11",
"hgvs_c": "n.2932_2933delGCinsCG",
"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": "ENST00000477143.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 499,
"aa_ref": "S",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2522,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1088,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896542.1",
"gene_hgnc_id": 9993,
"gene_symbol": "RGS11",
"hgvs_c": "c.1088_1089delGCinsCG",
"hgvs_p": "p.Ser363Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566601.1",
"strand": false,
"transcript": "ENST00000896542.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 456,
"aa_ref": "S",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1371,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286485.2",
"gene_hgnc_id": 9993,
"gene_symbol": "RGS11",
"hgvs_c": "c.959_960delGCinsCG",
"hgvs_p": "p.Ser320Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273414.1",
"strand": false,
"transcript": "NM_001286485.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 446,
"aa_ref": "S",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2410,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1341,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003834.3",
"gene_hgnc_id": 9993,
"gene_symbol": "RGS11",
"hgvs_c": "c.929_930delGCinsCG",
"hgvs_p": "p.Ser310Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003825.1",
"strand": false,
"transcript": "NM_003834.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 414,
"aa_ref": "S",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1245,
"cds_start": 833,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960873.1",
"gene_hgnc_id": 9993,
"gene_symbol": "RGS11",
"hgvs_c": "c.833_834delGCinsCG",
"hgvs_p": "p.Ser278Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630932.1",
"strand": false,
"transcript": "ENST00000960873.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 283,
"aa_ref": "S",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": 861,
"cds_end": null,
"cds_length": 852,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286486.2",
"gene_hgnc_id": 9993,
"gene_symbol": "RGS11",
"hgvs_c": "c.440_441delGCinsCG",
"hgvs_p": "p.Ser147Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273415.1",
"strand": false,
"transcript": "NM_001286486.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 499,
"aa_ref": "S",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1088,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522719.3",
"gene_hgnc_id": 9993,
"gene_symbol": "RGS11",
"hgvs_c": "c.1088_1089delGCinsCG",
"hgvs_p": "p.Ser363Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521021.1",
"strand": false,
"transcript": "XM_011522719.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "S",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2506,
"cdna_start": 1133,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522720.3",
"gene_hgnc_id": 9993,
"gene_symbol": "RGS11",
"hgvs_c": "c.1025_1026delGCinsCG",
"hgvs_p": "p.Ser342Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521022.1",
"strand": false,
"transcript": "XM_011522720.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 437,
"aa_ref": "A",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1435,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 1314,
"cds_start": 1105,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434832.1",
"gene_hgnc_id": 9993,
"gene_symbol": "RGS11",
"hgvs_c": "c.1105_1106delGCinsCG",
"hgvs_p": "p.Ala369Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290788.1",
"strand": false,
"transcript": "XM_047434832.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 373,
"aa_ref": "S",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2212,
"cdna_start": 839,
"cds_end": null,
"cds_length": 1122,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434833.1",
"gene_hgnc_id": 9993,
"gene_symbol": "RGS11",
"hgvs_c": "c.710_711delGCinsCG",
"hgvs_p": "p.Ser237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290789.1",
"strand": false,
"transcript": "XM_047434833.1",
"transcript_support_level": null
},
{
"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": 2236,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000168869.12",
"gene_hgnc_id": 9993,
"gene_symbol": "RGS11",
"hgvs_c": "n.*498_*499delGCinsCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000168869.8",
"strand": false,
"transcript": "ENST00000168869.12",
"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": 772,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000481672.5",
"gene_hgnc_id": 9993,
"gene_symbol": "RGS11",
"hgvs_c": "n.682_683delGCinsCG",
"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": "ENST00000481672.5",
"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": 2236,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000168869.12",
"gene_hgnc_id": 9993,
"gene_symbol": "RGS11",
"hgvs_c": "n.*498_*499delGCinsCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000168869.8",
"strand": false,
"transcript": "ENST00000168869.12",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 339,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000412541.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286901",
"hgvs_c": "n.279+1813_279+1814delGCinsCG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000412541.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 519,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000435035.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286901",
"hgvs_c": "n.279+1813_279+1814delGCinsCG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000435035.5",
"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": 2272,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000659283.1",
"gene_hgnc_id": 14163,
"gene_symbol": "FAM234A",
"hgvs_c": "n.*153-1064_*153-1063delGCinsCG",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499694.1",
"strand": true,
"transcript": "ENST00000659283.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
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}
]
}