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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: 10-35530234-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=35530234&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 35530234,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_145012.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ile190Ile",
"transcript": "NM_145012.6",
"protein_id": "NP_659449.3",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 341,
"cds_start": 570,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374704.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145012.6"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ile190Ile",
"transcript": "ENST00000374704.8",
"protein_id": "ENSP00000363836.4",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 341,
"cds_start": 570,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145012.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374704.8"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.495C>T",
"hgvs_p": "p.Ile165Ile",
"transcript": "ENST00000339497.7",
"protein_id": "ENSP00000344275.5",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 316,
"cds_start": 495,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339497.7"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.408C>T",
"hgvs_p": "p.Ile136Ile",
"transcript": "ENST00000265375.13",
"protein_id": "ENSP00000265375.9",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 287,
"cds_start": 408,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265375.13"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.408C>T",
"hgvs_p": "p.Ile136Ile",
"transcript": "ENST00000374706.5",
"protein_id": "ENSP00000363838.1",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 287,
"cds_start": 408,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374706.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ile190Ile",
"transcript": "ENST00000944717.1",
"protein_id": "ENSP00000614776.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 385,
"cds_start": 570,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944717.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ile190Ile",
"transcript": "ENST00000944716.1",
"protein_id": "ENSP00000614775.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 349,
"cds_start": 570,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944716.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.534C>T",
"hgvs_p": "p.Ile178Ile",
"transcript": "ENST00000890615.1",
"protein_id": "ENSP00000560674.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 329,
"cds_start": 534,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890615.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ile190Ile",
"transcript": "ENST00000944715.1",
"protein_id": "ENSP00000614774.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 321,
"cds_start": 570,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944715.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.495C>T",
"hgvs_p": "p.Ile165Ile",
"transcript": "NM_001282852.2",
"protein_id": "NP_001269781.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 316,
"cds_start": 495,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282852.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.459C>T",
"hgvs_p": "p.Ile153Ile",
"transcript": "ENST00000937101.1",
"protein_id": "ENSP00000607160.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 304,
"cds_start": 459,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937101.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.411C>T",
"hgvs_p": "p.Ile137Ile",
"transcript": "ENST00000944714.1",
"protein_id": "ENSP00000614773.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 288,
"cds_start": 411,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944714.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.408C>T",
"hgvs_p": "p.Ile136Ile",
"transcript": "NM_001282853.2",
"protein_id": "NP_001269782.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 287,
"cds_start": 408,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282853.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.408C>T",
"hgvs_p": "p.Ile136Ile",
"transcript": "NM_181698.4",
"protein_id": "NP_859049.2",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 287,
"cds_start": 408,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181698.4"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.375C>T",
"hgvs_p": "p.Ile125Ile",
"transcript": "ENST00000937099.1",
"protein_id": "ENSP00000607158.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 276,
"cds_start": 375,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937099.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Ile100Ile",
"transcript": "ENST00000937098.1",
"protein_id": "ENSP00000607157.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 251,
"cds_start": 300,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937098.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.171C>T",
"hgvs_p": "p.Ile57Ile",
"transcript": "NM_001282854.2",
"protein_id": "NP_001269783.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 208,
"cds_start": 171,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282854.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.265-22785C>T",
"hgvs_p": null,
"transcript": "ENST00000937100.1",
"protein_id": "ENSP00000607159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": null,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937100.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "n.150C>T",
"hgvs_p": null,
"transcript": "ENST00000465416.5",
"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": "ENST00000465416.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "n.635C>T",
"hgvs_p": null,
"transcript": "ENST00000492478.5",
"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": "ENST00000492478.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "n.39C>T",
"hgvs_p": null,
"transcript": "ENST00000497692.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000497692.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"hgvs_c": "c.*198C>T",
"hgvs_p": null,
"transcript": "ENST00000493157.6",
"protein_id": "ENSP00000473625.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": null,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493157.6"
}
],
"gene_symbol": "CCNY",
"gene_hgnc_id": 23354,
"dbsnp": "rs139143749",
"frequency_reference_population": 0.0012687714,
"hom_count_reference_population": 1,
"allele_count_reference_population": 2048,
"gnomad_exomes_af": 0.00132985,
"gnomad_genomes_af": 0.000682666,
"gnomad_exomes_ac": 1944,
"gnomad_genomes_ac": 104,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.27000001072883606,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.68,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_145012.6",
"gene_symbol": "CCNY",
"hgnc_id": 23354,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ile190Ile"
}
],
"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
}