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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: 6-3076907-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=3076907&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 3076907,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_003804.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "NM_001354930.2",
"protein_id": "NP_001341859.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 671,
"cds_start": 84,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 4092,
"mane_select": "ENST00000259808.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354930.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000259808.9",
"protein_id": "ENSP00000259808.3",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 671,
"cds_start": 84,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 4092,
"mane_select": "NM_001354930.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259808.9"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000380409.3",
"protein_id": "ENSP00000369773.3",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 625,
"cds_start": 84,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 3947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380409.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000967583.1",
"protein_id": "ENSP00000637642.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 692,
"cds_start": 84,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967583.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "NM_003804.6",
"protein_id": "NP_003795.2",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 671,
"cds_start": 84,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003804.6"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000858490.1",
"protein_id": "ENSP00000528549.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 671,
"cds_start": 84,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858490.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000858491.1",
"protein_id": "ENSP00000528550.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 671,
"cds_start": 84,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 4271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858491.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000858494.1",
"protein_id": "ENSP00000528553.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 671,
"cds_start": 84,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 4303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858494.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000858495.1",
"protein_id": "ENSP00000528554.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 671,
"cds_start": 84,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 2794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858495.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000919966.1",
"protein_id": "ENSP00000590025.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 671,
"cds_start": 84,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919966.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000967577.1",
"protein_id": "ENSP00000637636.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 671,
"cds_start": 84,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967577.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000967578.1",
"protein_id": "ENSP00000637637.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 671,
"cds_start": 84,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 3182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967578.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000967584.1",
"protein_id": "ENSP00000637643.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 671,
"cds_start": 84,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967584.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000919965.1",
"protein_id": "ENSP00000590024.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 669,
"cds_start": 84,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 4133,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919965.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000967582.1",
"protein_id": "ENSP00000637641.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 669,
"cds_start": 84,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967582.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000967580.1",
"protein_id": "ENSP00000637639.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 646,
"cds_start": 84,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 3991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967580.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "NM_001354931.2",
"protein_id": "NP_001341860.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 625,
"cds_start": 84,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 3879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354931.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000858492.1",
"protein_id": "ENSP00000528551.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 625,
"cds_start": 84,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858492.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000858493.1",
"protein_id": "ENSP00000528552.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 621,
"cds_start": 84,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 3912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858493.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000967576.1",
"protein_id": "ENSP00000637635.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 621,
"cds_start": 84,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 3908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967576.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000967581.1",
"protein_id": "ENSP00000637640.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 519,
"cds_start": 84,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967581.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe",
"transcript": "ENST00000967579.1",
"protein_id": "ENSP00000637638.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 517,
"cds_start": 84,
"cds_end": null,
"cds_length": 1554,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000677261.1"
}
],
"gene_symbol": "RIPK1",
"gene_hgnc_id": 10019,
"dbsnp": "rs2272990",
"frequency_reference_population": 0.9425977,
"hom_count_reference_population": 718360,
"allele_count_reference_population": 1519458,
"gnomad_exomes_af": 0.94656,
"gnomad_genomes_af": 0.904331,
"gnomad_exomes_ac": 1382687,
"gnomad_genomes_ac": 136771,
"gnomad_exomes_homalt": 656133,
"gnomad_genomes_homalt": 62227,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.231,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_003804.6",
"gene_symbol": "RIPK1",
"hgnc_id": 10019,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Phe28Phe"
}
],
"clinvar_disease": "Autoinflammation with episodic fever and lymphadenopathy,Immunodeficiency 57,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not provided|Immunodeficiency 57|not specified|Autoinflammation with episodic fever and lymphadenopathy",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}