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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: 16-271029-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=271029&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 271029,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_183337.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Val312Met",
"transcript": "NM_183337.3",
"protein_id": "NP_899180.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 934,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": "ENST00000397770.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183337.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Val312Met",
"transcript": "ENST00000397770.8",
"protein_id": "ENSP00000380876.3",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 934,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": "NM_183337.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397770.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Val301Met",
"transcript": "ENST00000359740.6",
"protein_id": "ENSP00000352778.5",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 456,
"cds_start": 901,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 1371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359740.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Met",
"transcript": "ENST00000316163.9",
"protein_id": "ENSP00000319069.5",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 446,
"cds_start": 871,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 2376,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316163.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "n.2874G>A",
"hgvs_p": null,
"transcript": "ENST00000477143.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4294,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477143.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Val344Met",
"transcript": "ENST00000896542.1",
"protein_id": "ENSP00000566601.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 499,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896542.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Val301Met",
"transcript": "NM_001286485.2",
"protein_id": "NP_001273414.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 456,
"cds_start": 901,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286485.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Met",
"transcript": "NM_003834.3",
"protein_id": "NP_003825.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 446,
"cds_start": 871,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003834.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Val259Met",
"transcript": "ENST00000960873.1",
"protein_id": "ENSP00000630932.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 414,
"cds_start": 775,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960873.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Val128Met",
"transcript": "NM_001286486.2",
"protein_id": "NP_001273415.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 283,
"cds_start": 382,
"cds_end": null,
"cds_length": 852,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286486.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Val344Met",
"transcript": "XM_011522719.3",
"protein_id": "XP_011521021.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 499,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522719.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Met",
"transcript": "XM_011522720.3",
"protein_id": "XP_011521022.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 478,
"cds_start": 967,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522720.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.652G>A",
"hgvs_p": "p.Val218Met",
"transcript": "XM_047434833.1",
"protein_id": "XP_047290789.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 373,
"cds_start": 652,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434833.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.1047G>A",
"hgvs_p": "p.Pro349Pro",
"transcript": "XM_047434832.1",
"protein_id": "XP_047290788.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 437,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434832.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "n.*440G>A",
"hgvs_p": null,
"transcript": "ENST00000168869.12",
"protein_id": "ENSP00000168869.8",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000168869.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "n.624G>A",
"hgvs_p": null,
"transcript": "ENST00000481672.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 772,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481672.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "n.*440G>A",
"hgvs_p": null,
"transcript": "ENST00000168869.12",
"protein_id": "ENSP00000168869.8",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000168869.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286901",
"gene_hgnc_id": null,
"hgvs_c": "n.279+2024C>T",
"hgvs_p": null,
"transcript": "ENST00000412541.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 339,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000412541.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286901",
"gene_hgnc_id": null,
"hgvs_c": "n.279+2024C>T",
"hgvs_p": null,
"transcript": "ENST00000435035.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 519,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000435035.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "FAM234A",
"gene_hgnc_id": 14163,
"hgvs_c": "n.*153-853C>T",
"hgvs_p": null,
"transcript": "ENST00000659283.1",
"protein_id": "ENSP00000499694.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000659283.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.*309G>A",
"hgvs_p": null,
"transcript": "XM_047434834.1",
"protein_id": "XP_047290790.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434834.1"
}
],
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"dbsnp": "rs746233784",
"frequency_reference_population": 0.000021738266,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000233182,
"gnomad_genomes_af": 0.00000658007,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17437246441841125,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.022,
"revel_prediction": "Benign",
"alphamissense_score": 0.0851,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.465,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_183337.3",
"gene_symbol": "RGS11",
"hgnc_id": 9993,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Val312Met"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000659283.1",
"gene_symbol": "FAM234A",
"hgnc_id": 14163,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*153-853C>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000412541.5",
"gene_symbol": "ENSG00000286901",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.279+2024C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}