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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: 16-270745-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=270745&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 270745,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_183337.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1066G>A",
"hgvs_p": "p.Glu356Lys",
"transcript": "NM_183337.3",
"protein_id": "NP_899180.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 467,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397770.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183337.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1066G>A",
"hgvs_p": "p.Glu356Lys",
"transcript": "ENST00000397770.8",
"protein_id": "ENSP00000380876.3",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 467,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_183337.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397770.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"transcript": "ENST00000359740.6",
"protein_id": "ENSP00000352778.5",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 456,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359740.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1003G>A",
"hgvs_p": "p.Glu335Lys",
"transcript": "ENST00000316163.9",
"protein_id": "ENSP00000319069.5",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 446,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "n.3006G>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477143.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Glu388Lys",
"transcript": "ENST00000896542.1",
"protein_id": "ENSP00000566601.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 499,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896542.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"transcript": "NM_001286485.2",
"protein_id": "NP_001273414.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 456,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286485.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1003G>A",
"hgvs_p": "p.Glu335Lys",
"transcript": "NM_003834.3",
"protein_id": "NP_003825.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 446,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003834.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.907G>A",
"hgvs_p": "p.Glu303Lys",
"transcript": "ENST00000960873.1",
"protein_id": "ENSP00000630932.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 414,
"cds_start": 907,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960873.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "NM_001286486.2",
"protein_id": "NP_001273415.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 283,
"cds_start": 514,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286486.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Glu388Lys",
"transcript": "XM_011522719.3",
"protein_id": "XP_011521021.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 499,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522719.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.1099G>A",
"hgvs_p": "p.Glu367Lys",
"transcript": "XM_011522720.3",
"protein_id": "XP_011521022.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 478,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522720.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Glu262Lys",
"transcript": "XM_047434833.1",
"protein_id": "XP_047290789.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 373,
"cds_start": 784,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434833.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "c.1179G>A",
"hgvs_p": "p.Thr393Thr",
"transcript": "XM_047434832.1",
"protein_id": "XP_047290788.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 437,
"cds_start": 1179,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "n.*572G>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": null,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "n.756G>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": null,
"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": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"hgvs_c": "n.*572G>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": null,
"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+1740C>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": null,
"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+1740C>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": null,
"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.*153-1137C>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000659283.1"
}
],
"gene_symbol": "RGS11",
"gene_hgnc_id": 9993,
"dbsnp": "rs373870484",
"frequency_reference_population": 0.00003411208,
"hom_count_reference_population": 0,
"allele_count_reference_population": 55,
"gnomad_exomes_af": 0.000026711,
"gnomad_genomes_af": 0.000105083,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0669746994972229,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.024000000208616257,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.124,
"revel_prediction": "Benign",
"alphamissense_score": 0.0656,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.912,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000749510645942694,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_183337.3",
"gene_symbol": "RGS11",
"hgnc_id": 9993,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Glu356Lys"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000659283.1",
"gene_symbol": "FAM234A",
"hgnc_id": 14163,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*153-1137C>T",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000412541.5",
"gene_symbol": "ENSG00000286901",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.279+1740C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}