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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: 1-213051471-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=213051471&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 213051471,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012424.6",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "NM_012424.6",
"protein_id": "NP_036556.2",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1066,
"cds_start": 67,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366960.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012424.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "ENST00000366960.8",
"protein_id": "ENSP00000355927.3",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 1066,
"cds_start": 67,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012424.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366960.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.-356C>T",
"hgvs_p": null,
"transcript": "ENST00000543354.5",
"protein_id": "ENSP00000439282.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 885,
"cds_start": null,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543354.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.-555C>T",
"hgvs_p": null,
"transcript": "ENST00000614059.4",
"protein_id": "ENSP00000483873.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": null,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614059.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.-1148C>T",
"hgvs_p": null,
"transcript": "ENST00000615329.4",
"protein_id": "ENSP00000484471.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": null,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615329.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "NM_001136138.4",
"protein_id": "NP_001129610.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1054,
"cds_start": 67,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136138.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "ENST00000366959.4",
"protein_id": "ENSP00000355926.3",
"transcript_support_level": 2,
"aa_start": 23,
"aa_end": null,
"aa_length": 1054,
"cds_start": 67,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366959.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "NM_001349646.2",
"protein_id": "NP_001336575.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1035,
"cds_start": 67,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349646.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "ENST00000914117.1",
"protein_id": "ENSP00000584176.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 952,
"cds_start": 67,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914117.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "NM_001349647.2",
"protein_id": "NP_001336576.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 945,
"cds_start": 67,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349647.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "ENST00000863053.1",
"protein_id": "ENSP00000533112.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 921,
"cds_start": 67,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863053.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "ENST00000914116.1",
"protein_id": "ENSP00000584175.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 893,
"cds_start": 67,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914116.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "ENST00000863049.1",
"protein_id": "ENSP00000533108.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 730,
"cds_start": 67,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863049.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "ENST00000863051.1",
"protein_id": "ENSP00000533110.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 722,
"cds_start": 67,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863051.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "ENST00000863054.1",
"protein_id": "ENSP00000533113.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 718,
"cds_start": 67,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863054.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "ENST00000863050.1",
"protein_id": "ENSP00000533109.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 699,
"cds_start": 67,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863050.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "ENST00000863052.1",
"protein_id": "ENSP00000533111.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 683,
"cds_start": 67,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863052.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "ENST00000863048.1",
"protein_id": "ENSP00000533107.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 593,
"cds_start": 67,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863048.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "ENST00000962851.1",
"protein_id": "ENSP00000632910.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 578,
"cds_start": 67,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962851.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "ENST00000863055.1",
"protein_id": "ENSP00000533114.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 473,
"cds_start": 67,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863055.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "ENST00000914115.1",
"protein_id": "ENSP00000584174.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 283,
"cds_start": 67,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914115.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr",
"transcript": "ENST00000962852.1",
"protein_id": "ENSP00000632911.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 213,
"cds_start": 67,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
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],
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.32,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5244,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.835,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012424.6",
"gene_symbol": "RPS6KC1",
"hgnc_id": 10439,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.67C>T",
"hgvs_p": "p.His23Tyr"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}