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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: 6-3076918-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=3076918&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 3076918,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003804.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "NM_001354930.2",
"protein_id": "NP_001341859.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 671,
"cds_start": 95,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000259808.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354930.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000259808.9",
"protein_id": "ENSP00000259808.3",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 671,
"cds_start": 95,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001354930.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259808.9"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000380409.3",
"protein_id": "ENSP00000369773.3",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 625,
"cds_start": 95,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380409.3"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000967583.1",
"protein_id": "ENSP00000637642.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 692,
"cds_start": 95,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967583.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "NM_003804.6",
"protein_id": "NP_003795.2",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 671,
"cds_start": 95,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003804.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000858490.1",
"protein_id": "ENSP00000528549.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 671,
"cds_start": 95,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858490.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000858491.1",
"protein_id": "ENSP00000528550.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 671,
"cds_start": 95,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858491.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000858494.1",
"protein_id": "ENSP00000528553.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 671,
"cds_start": 95,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858494.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000858495.1",
"protein_id": "ENSP00000528554.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 671,
"cds_start": 95,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858495.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000919966.1",
"protein_id": "ENSP00000590025.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 671,
"cds_start": 95,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919966.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000967577.1",
"protein_id": "ENSP00000637636.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 671,
"cds_start": 95,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967577.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000967578.1",
"protein_id": "ENSP00000637637.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 671,
"cds_start": 95,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967578.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000967584.1",
"protein_id": "ENSP00000637643.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 671,
"cds_start": 95,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967584.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000919965.1",
"protein_id": "ENSP00000590024.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 669,
"cds_start": 95,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919965.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000967582.1",
"protein_id": "ENSP00000637641.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 669,
"cds_start": 95,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967582.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000967580.1",
"protein_id": "ENSP00000637639.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 646,
"cds_start": 95,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967580.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "NM_001354931.2",
"protein_id": "NP_001341860.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 625,
"cds_start": 95,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354931.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000858492.1",
"protein_id": "ENSP00000528551.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 625,
"cds_start": 95,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858492.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000858493.1",
"protein_id": "ENSP00000528552.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 621,
"cds_start": 95,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858493.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000967576.1",
"protein_id": "ENSP00000637635.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 621,
"cds_start": 95,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967576.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000967581.1",
"protein_id": "ENSP00000637640.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 519,
"cds_start": 95,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967581.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000967579.1",
"protein_id": "ENSP00000637638.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 517,
"cds_start": 95,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"dbsnp": "rs745666998",
"frequency_reference_population": 0.000031641288,
"hom_count_reference_population": 0,
"allele_count_reference_population": 51,
"gnomad_exomes_af": 0.0000328738,
"gnomad_genomes_af": 0.0000197772,
"gnomad_exomes_ac": 48,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17279493808746338,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.262,
"revel_prediction": "Benign",
"alphamissense_score": 0.1217,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.614,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS1_Supporting",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_003804.6",
"gene_symbol": "RIPK1",
"hgnc_id": 10019,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Ser32Phe"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}