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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: 19-16520233-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=16520233&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 16520233,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006387.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHERP",
"gene_hgnc_id": 16930,
"hgvs_c": "c.2378G>A",
"hgvs_p": "p.Arg793His",
"transcript": "NM_006387.6",
"protein_id": "NP_006378.3",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 916,
"cds_start": 2378,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000546361.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006387.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHERP",
"gene_hgnc_id": 16930,
"hgvs_c": "c.2378G>A",
"hgvs_p": "p.Arg793His",
"transcript": "ENST00000546361.7",
"protein_id": "ENSP00000439856.2",
"transcript_support_level": 1,
"aa_start": 793,
"aa_end": null,
"aa_length": 916,
"cds_start": 2378,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006387.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546361.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.*180C>T",
"hgvs_p": null,
"transcript": "NM_032207.4",
"protein_id": "NP_115583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 657,
"cds_start": null,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000221671.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032207.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.*180C>T",
"hgvs_p": null,
"transcript": "ENST00000221671.8",
"protein_id": "ENSP00000221671.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 657,
"cds_start": null,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032207.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221671.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "n.*244C>T",
"hgvs_p": null,
"transcript": "ENST00000593380.1",
"protein_id": "ENSP00000472255.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000593380.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "n.*244C>T",
"hgvs_p": null,
"transcript": "ENST00000593380.1",
"protein_id": "ENSP00000472255.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000593380.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000141979",
"gene_hgnc_id": null,
"hgvs_c": "n.*194-881G>A",
"hgvs_p": null,
"transcript": "ENST00000409035.1",
"protein_id": "ENSP00000386951.2",
"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": "ENST00000409035.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHERP",
"gene_hgnc_id": 16930,
"hgvs_c": "c.2441G>A",
"hgvs_p": "p.Arg814His",
"transcript": "ENST00000862402.1",
"protein_id": "ENSP00000532461.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 937,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862402.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHERP",
"gene_hgnc_id": 16930,
"hgvs_c": "c.2411G>A",
"hgvs_p": "p.Arg804His",
"transcript": "ENST00000198939.6",
"protein_id": "ENSP00000198939.6",
"transcript_support_level": 5,
"aa_start": 804,
"aa_end": null,
"aa_length": 927,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000198939.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHERP",
"gene_hgnc_id": 16930,
"hgvs_c": "c.2408G>A",
"hgvs_p": "p.Arg803His",
"transcript": "ENST00000862405.1",
"protein_id": "ENSP00000532464.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 926,
"cds_start": 2408,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862405.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHERP",
"gene_hgnc_id": 16930,
"hgvs_c": "c.2375G>A",
"hgvs_p": "p.Arg792His",
"transcript": "ENST00000862399.1",
"protein_id": "ENSP00000532458.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 915,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862399.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHERP",
"gene_hgnc_id": 16930,
"hgvs_c": "c.2372G>A",
"hgvs_p": "p.Arg791His",
"transcript": "ENST00000862400.1",
"protein_id": "ENSP00000532459.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 914,
"cds_start": 2372,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862400.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHERP",
"gene_hgnc_id": 16930,
"hgvs_c": "c.2369G>A",
"hgvs_p": "p.Arg790His",
"transcript": "ENST00000936594.1",
"protein_id": "ENSP00000606653.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 913,
"cds_start": 2369,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936594.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHERP",
"gene_hgnc_id": 16930,
"hgvs_c": "c.2363G>A",
"hgvs_p": "p.Arg788His",
"transcript": "ENST00000862401.1",
"protein_id": "ENSP00000532460.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 911,
"cds_start": 2363,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862401.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHERP",
"gene_hgnc_id": 16930,
"hgvs_c": "c.2411G>A",
"hgvs_p": "p.Arg804His",
"transcript": "ENST00000936597.1",
"protein_id": "ENSP00000606656.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 910,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936597.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHERP",
"gene_hgnc_id": 16930,
"hgvs_c": "c.2378G>A",
"hgvs_p": "p.Arg793His",
"transcript": "ENST00000862403.1",
"protein_id": "ENSP00000532462.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 909,
"cds_start": 2378,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862403.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHERP",
"gene_hgnc_id": 16930,
"hgvs_c": "c.2330G>A",
"hgvs_p": "p.Arg777His",
"transcript": "ENST00000862398.1",
"protein_id": "ENSP00000532457.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 900,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862398.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHERP",
"gene_hgnc_id": 16930,
"hgvs_c": "c.2378G>A",
"hgvs_p": "p.Arg793His",
"transcript": "ENST00000862404.1",
"protein_id": "ENSP00000532463.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 899,
"cds_start": 2378,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862404.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHERP",
"gene_hgnc_id": 16930,
"hgvs_c": "c.2330G>A",
"hgvs_p": "p.Arg777His",
"transcript": "ENST00000936596.1",
"protein_id": "ENSP00000606655.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 883,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936596.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHERP",
"gene_hgnc_id": 16930,
"hgvs_c": "c.2024G>A",
"hgvs_p": "p.Arg675His",
"transcript": "ENST00000862406.1",
"protein_id": "ENSP00000532465.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 798,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862406.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.*180C>T",
"hgvs_p": null,
"transcript": "ENST00000948804.1",
"protein_id": "ENSP00000618863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": null,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948804.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.*180C>T",
"hgvs_p": null,
"transcript": "ENST00000862233.1",
"protein_id": "ENSP00000532292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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{
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],
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"dbsnp": "rs202164310",
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07906648516654968,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.1085,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.402,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_006387.6",
"gene_symbol": "CHERP",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2378G>A",
"hgvs_p": "p.Arg793His"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_032207.4",
"gene_symbol": "C19orf44",
"hgnc_id": 26141,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
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},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000409035.1",
"gene_symbol": "ENSG00000141979",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*194-881G>A",
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}
],
"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
}