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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: 3-112347701-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=112347701&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 112347701,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001004196.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.565C>A",
"hgvs_p": "p.Pro189Thr",
"transcript": "NM_005944.7",
"protein_id": "NP_005935.4",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 269,
"cds_start": 565,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000315711.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005944.7"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.565C>A",
"hgvs_p": "p.Pro189Thr",
"transcript": "ENST00000315711.12",
"protein_id": "ENSP00000312766.8",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 269,
"cds_start": 565,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005944.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315711.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "n.*107C>A",
"hgvs_p": null,
"transcript": "ENST00000498096.6",
"protein_id": "ENSP00000418576.1",
"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": "ENST00000498096.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "n.*107C>A",
"hgvs_p": null,
"transcript": "ENST00000498096.6",
"protein_id": "ENSP00000418576.1",
"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": "ENST00000498096.6"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.640C>A",
"hgvs_p": "p.Pro214Thr",
"transcript": "NM_001004196.4",
"protein_id": "NP_001004196.2",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 294,
"cds_start": 640,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004196.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.640C>A",
"hgvs_p": "p.Pro214Thr",
"transcript": "ENST00000473539.5",
"protein_id": "ENSP00000420298.1",
"transcript_support_level": 2,
"aa_start": 214,
"aa_end": null,
"aa_length": 294,
"cds_start": 640,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473539.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.565C>A",
"hgvs_p": "p.Pro189Thr",
"transcript": "NM_001365851.2",
"protein_id": "NP_001352780.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 278,
"cds_start": 565,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365851.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.544C>A",
"hgvs_p": "p.Pro182Thr",
"transcript": "NM_001365852.1",
"protein_id": "NP_001352781.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 262,
"cds_start": 544,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365852.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.544C>A",
"hgvs_p": "p.Pro182Thr",
"transcript": "NM_001365853.1",
"protein_id": "NP_001352782.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 262,
"cds_start": 544,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365853.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.544C>A",
"hgvs_p": "p.Pro182Thr",
"transcript": "NM_001365854.1",
"protein_id": "NP_001352783.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 262,
"cds_start": 544,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365854.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.544C>A",
"hgvs_p": "p.Pro182Thr",
"transcript": "ENST00000607597.2",
"protein_id": "ENSP00000476114.2",
"transcript_support_level": 4,
"aa_start": 182,
"aa_end": null,
"aa_length": 262,
"cds_start": 544,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607597.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.544C>A",
"hgvs_p": "p.Pro182Thr",
"transcript": "ENST00000714188.1",
"protein_id": "ENSP00000519478.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 262,
"cds_start": 544,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714188.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.544C>A",
"hgvs_p": "p.Pro182Thr",
"transcript": "ENST00000714205.1",
"protein_id": "ENSP00000519488.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 262,
"cds_start": 544,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714205.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.544C>A",
"hgvs_p": "p.Pro182Thr",
"transcript": "ENST00000714208.1",
"protein_id": "ENSP00000519491.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 262,
"cds_start": 544,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714208.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.478C>A",
"hgvs_p": "p.Pro160Thr",
"transcript": "ENST00000606471.6",
"protein_id": "ENSP00000475860.2",
"transcript_support_level": 3,
"aa_start": 160,
"aa_end": null,
"aa_length": 240,
"cds_start": 478,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000606471.6"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Pro115Thr",
"transcript": "NM_001318828.2",
"protein_id": "NP_001305757.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 195,
"cds_start": 343,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318828.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Pro115Thr",
"transcript": "ENST00000383681.7",
"protein_id": "ENSP00000373179.3",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 195,
"cds_start": 343,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383681.7"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.217C>A",
"hgvs_p": "p.Pro73Thr",
"transcript": "NM_001318826.2",
"protein_id": "NP_001305755.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 153,
"cds_start": 217,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318826.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.217C>A",
"hgvs_p": "p.Pro73Thr",
"transcript": "NM_001318830.2",
"protein_id": "NP_001305759.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 153,
"cds_start": 217,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318830.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.217C>A",
"hgvs_p": "p.Pro73Thr",
"transcript": "NM_001365855.1",
"protein_id": "NP_001352784.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 153,
"cds_start": 217,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365855.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Pro21Thr",
"transcript": "ENST00000714209.1",
"protein_id": "ENSP00000519492.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 101,
"cds_start": 61,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714209.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CD200",
"gene_hgnc_id": 7203,
"hgvs_c": "c.422-2011C>A",
"hgvs_p": null,
"transcript": "ENST00000937589.1",
"protein_id": "ENSP00000607648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": null,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937589.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"dbsnp": "rs772898326",
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"gnomad_exomes_af": 6.84088e-7,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.008,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.207,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001004196.4",
"gene_symbol": "CD200",
"hgnc_id": 7203,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.640C>A",
"hgvs_p": "p.Pro214Thr"
},
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000793787.1",
"gene_symbol": "ENSG00000243081",
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"effects": [
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],
"inheritance_mode": "",
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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
}