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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: 6-37381257-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=37381257&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "RNF8",
"hgnc_id": 10071,
"hgvs_c": "c.1344G>A",
"hgvs_p": "p.Thr448Thr",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_003958.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 616167,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 485,
"aa_ref": "T",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5616,
"cdna_start": 1526,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1344,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_003958.4",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "c.1344G>A",
"hgvs_p": "p.Thr448Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373479.9",
"protein_coding": true,
"protein_id": "NP_003949.1",
"strand": true,
"transcript": "NM_003958.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 485,
"aa_ref": "T",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5616,
"cdna_start": 1526,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1344,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000373479.9",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "c.1344G>A",
"hgvs_p": "p.Thr448Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003958.4",
"protein_coding": true,
"protein_id": "ENSP00000362578.4",
"strand": true,
"transcript": "ENST00000373479.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 516,
"aa_ref": "T",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2157,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1344,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952612.1",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "c.1344G>A",
"hgvs_p": "p.Thr448Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622671.1",
"strand": true,
"transcript": "ENST00000952612.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 501,
"aa_ref": "T",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2072,
"cdna_start": 1435,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1344,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952613.1",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "c.1344G>A",
"hgvs_p": "p.Thr448Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622672.1",
"strand": true,
"transcript": "ENST00000952613.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 492,
"aa_ref": "T",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2135,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1365,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000918865.1",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "c.1365G>A",
"hgvs_p": "p.Thr455Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588924.1",
"strand": true,
"transcript": "ENST00000918865.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 483,
"aa_ref": "T",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": 1509,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1338,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000918866.1",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "c.1338G>A",
"hgvs_p": "p.Thr446Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588925.1",
"strand": true,
"transcript": "ENST00000918866.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 464,
"aa_ref": "T",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2033,
"cdna_start": 1435,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1281,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854576.1",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Thr427Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524635.1",
"strand": true,
"transcript": "ENST00000854576.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 455,
"aa_ref": "T",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1254,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854574.1",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "c.1254G>A",
"hgvs_p": "p.Thr418Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524633.1",
"strand": true,
"transcript": "ENST00000854574.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 449,
"aa_ref": "T",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1975,
"cdna_start": 1386,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1236,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000952611.1",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "c.1236G>A",
"hgvs_p": "p.Thr412Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622670.1",
"strand": true,
"transcript": "ENST00000952611.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 434,
"aa_ref": "T",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1941,
"cdna_start": 1355,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1191,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000854577.1",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "c.1191G>A",
"hgvs_p": "p.Thr397Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524636.1",
"strand": true,
"transcript": "ENST00000854577.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 419,
"aa_ref": "T",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1900,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1260,
"cds_start": 1146,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000854575.1",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "c.1146G>A",
"hgvs_p": "p.Thr382Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524634.1",
"strand": true,
"transcript": "ENST00000854575.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 189,
"aa_ref": "T",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1224,
"cdna_start": 638,
"cds_end": null,
"cds_length": 570,
"cds_start": 456,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000918867.1",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "c.456G>A",
"hgvs_p": "p.Thr152Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588926.1",
"strand": true,
"transcript": "ENST00000918867.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 153,
"aa_ref": "T",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1043,
"cdna_start": 456,
"cds_end": null,
"cds_length": 462,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000918868.1",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Thr116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588927.1",
"strand": true,
"transcript": "ENST00000918868.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 448,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5411,
"cdna_start": null,
"cds_end": null,
"cds_length": 1347,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_183078.3",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "c.1236+4224G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_898901.1",
"strand": true,
"transcript": "NM_183078.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 448,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1800,
"cdna_start": null,
"cds_end": null,
"cds_length": 1347,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000469731.5",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "c.1236+4224G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418879.1",
"strand": true,
"transcript": "ENST00000469731.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 207,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 835,
"cdna_start": null,
"cds_end": null,
"cds_length": 624,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000498460.1",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "c.513+4224G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417599.1",
"strand": true,
"transcript": "ENST00000498460.1",
"transcript_support_level": 3
},
{
"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": 2124,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000229866.10",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "n.*1153G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000229866.6",
"strand": true,
"transcript": "ENST00000229866.10",
"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": 5722,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NR_046399.2",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "n.1632G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_046399.2",
"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": 2124,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000229866.10",
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"hgvs_c": "n.*1153G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000229866.6",
"strand": true,
"transcript": "ENST00000229866.10",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2284922",
"effect": "synonymous_variant",
"frequency_reference_population": 0.3818595,
"gene_hgnc_id": 10071,
"gene_symbol": "RNF8",
"gnomad_exomes_ac": 551012,
"gnomad_exomes_af": 0.376984,
"gnomad_exomes_homalt": 111945,
"gnomad_genomes_ac": 65155,
"gnomad_genomes_af": 0.428759,
"gnomad_genomes_homalt": 14981,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 126926,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.954,
"pos": 37381257,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_003958.4"
}
]
}