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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: 17-38735233-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=38735233&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 38735233,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007144.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Pro342His",
"transcript": "NM_007144.3",
"protein_id": "NP_009075.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 344,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 2634,
"mane_select": "ENST00000620225.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007144.3"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Pro342His",
"transcript": "ENST00000620225.5",
"protein_id": "ENSP00000482815.1",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 344,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 2634,
"mane_select": "NM_007144.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620225.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Pro342His",
"transcript": "ENST00000611883.4",
"protein_id": "ENSP00000478970.1",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 344,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 2179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611883.4"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Pro342His",
"transcript": "ENST00000616199.4",
"protein_id": "ENSP00000482063.1",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 344,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 3062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616199.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CISD3",
"gene_hgnc_id": 27578,
"hgvs_c": "c.*1778G>T",
"hgvs_p": null,
"transcript": "NM_001136498.2",
"protein_id": "NP_001129970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": null,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": "ENST00000613478.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136498.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CISD3",
"gene_hgnc_id": 27578,
"hgvs_c": "c.*1778G>T",
"hgvs_p": null,
"transcript": "ENST00000613478.2",
"protein_id": "ENSP00000483781.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": null,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": "NM_001136498.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613478.2"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1028C>A",
"hgvs_p": "p.Pro343His",
"transcript": "ENST00000939018.1",
"protein_id": "ENSP00000609077.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 345,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 2594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939018.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1028C>A",
"hgvs_p": "p.Pro343His",
"transcript": "ENST00000939019.1",
"protein_id": "ENSP00000609078.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 345,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939019.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1028C>A",
"hgvs_p": "p.Pro343His",
"transcript": "ENST00000939021.1",
"protein_id": "ENSP00000609080.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 345,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 1360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939021.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Pro342His",
"transcript": "NM_001369614.1",
"protein_id": "NP_001356543.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 344,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369614.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Pro342His",
"transcript": "NM_001369615.1",
"protein_id": "NP_001356544.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 344,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369615.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Pro342His",
"transcript": "ENST00000894201.1",
"protein_id": "ENSP00000564260.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 344,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894201.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Pro342His",
"transcript": "ENST00000894202.1",
"protein_id": "ENSP00000564261.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 344,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894202.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Pro342His",
"transcript": "ENST00000894203.1",
"protein_id": "ENSP00000564262.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 344,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 2672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894203.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Pro342His",
"transcript": "ENST00000894204.1",
"protein_id": "ENSP00000564263.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 344,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894204.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Pro342His",
"transcript": "ENST00000894205.1",
"protein_id": "ENSP00000564264.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 344,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894205.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Pro342His",
"transcript": "ENST00000894206.1",
"protein_id": "ENSP00000564265.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 344,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894206.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Pro342His",
"transcript": "ENST00000894207.1",
"protein_id": "ENSP00000564266.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 344,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 2596,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894207.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Pro342His",
"transcript": "ENST00000939014.1",
"protein_id": "ENSP00000609073.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 344,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939014.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Pro342His",
"transcript": "ENST00000939015.1",
"protein_id": "ENSP00000609074.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 344,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 2541,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939015.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Pro342His",
"transcript": "ENST00000939016.1",
"protein_id": "ENSP00000609075.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 344,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939016.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF2",
"gene_hgnc_id": 12929,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Pro342His",
"transcript": "ENST00000939017.1",
"protein_id": "ENSP00000609076.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 344,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 2610,
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],
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"computational_score_selected": 0.26491957902908325,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.185,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.158,
"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": -6,
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{
"score": -6,
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"criteria": [
"BP4",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_007144.3",
"gene_symbol": "PCGF2",
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"effects": [
"missense_variant"
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"inheritance_mode": "AD",
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{
"score": 0,
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"criteria": [
"PM2",
"BP4",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001136498.2",
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"inheritance_mode": "AR",
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}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}