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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: 5-132752100-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132752100&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CCNI2",
"hgnc_id": 33869,
"hgvs_c": "c.957G>C",
"hgvs_p": "p.Lys319Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001287252.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SEPTIN8",
"hgnc_id": 16511,
"hgvs_c": "c.1368C>G",
"hgvs_p": "p.Pro456Pro",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001098811.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 12,
"alphamissense_prediction": null,
"alphamissense_score": 0.9406,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.46364539861679077,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 369,
"aa_ref": "K",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2613,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1110,
"cds_start": 909,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001039780.4",
"gene_hgnc_id": 33869,
"gene_symbol": "CCNI2",
"hgvs_c": "c.909G>C",
"hgvs_p": "p.Lys303Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378731.6",
"protein_coding": true,
"protein_id": "NP_001034869.1",
"strand": true,
"transcript": "NM_001039780.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 369,
"aa_ref": "K",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2613,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1110,
"cds_start": 909,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000378731.6",
"gene_hgnc_id": 33869,
"gene_symbol": "CCNI2",
"hgvs_c": "c.909G>C",
"hgvs_p": "p.Lys303Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001039780.4",
"protein_coding": true,
"protein_id": "ENSP00000368005.1",
"strand": true,
"transcript": "ENST00000378731.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 385,
"aa_ref": "K",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2642,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1158,
"cds_start": 957,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000614847.1",
"gene_hgnc_id": 33869,
"gene_symbol": "CCNI2",
"hgvs_c": "c.957G>C",
"hgvs_p": "p.Lys319Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478257.1",
"strand": true,
"transcript": "ENST00000614847.1",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 483,
"aa_ref": "P",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2751,
"cdna_start": 1470,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1368,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001098811.2",
"gene_hgnc_id": 16511,
"gene_symbol": "SEPTIN8",
"hgvs_c": "c.1368C>G",
"hgvs_p": "p.Pro456Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378719.7",
"protein_coding": true,
"protein_id": "NP_001092281.1",
"strand": false,
"transcript": "NM_001098811.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 483,
"aa_ref": "P",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2751,
"cdna_start": 1470,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1368,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000378719.7",
"gene_hgnc_id": 16511,
"gene_symbol": "SEPTIN8",
"hgvs_c": "c.1368C>G",
"hgvs_p": "p.Pro456Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001098811.2",
"protein_coding": true,
"protein_id": "ENSP00000367991.2",
"strand": false,
"transcript": "ENST00000378719.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 398,
"aa_ref": "K",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2412,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1197,
"cds_start": 996,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000878149.1",
"gene_hgnc_id": 33869,
"gene_symbol": "CCNI2",
"hgvs_c": "c.996G>C",
"hgvs_p": "p.Lys332Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548208.1",
"strand": true,
"transcript": "ENST00000878149.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 386,
"aa_ref": "K",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2533,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1161,
"cds_start": 960,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000878146.1",
"gene_hgnc_id": 33869,
"gene_symbol": "CCNI2",
"hgvs_c": "c.960G>C",
"hgvs_p": "p.Lys320Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548205.1",
"strand": true,
"transcript": "ENST00000878146.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 385,
"aa_ref": "K",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 1158,
"cds_start": 957,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001287252.2",
"gene_hgnc_id": 33869,
"gene_symbol": "CCNI2",
"hgvs_c": "c.957G>C",
"hgvs_p": "p.Lys319Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274181.1",
"strand": true,
"transcript": "NM_001287252.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 382,
"aa_ref": "K",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2362,
"cdna_start": 969,
"cds_end": null,
"cds_length": 1149,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971609.1",
"gene_hgnc_id": 33869,
"gene_symbol": "CCNI2",
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Lys316Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641668.1",
"strand": true,
"transcript": "ENST00000971609.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 370,
"aa_ref": "K",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2616,
"cdna_start": 982,
"cds_end": null,
"cds_length": 1113,
"cds_start": 912,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001287253.2",
"gene_hgnc_id": 33869,
"gene_symbol": "CCNI2",
"hgvs_c": "c.912G>C",
"hgvs_p": "p.Lys304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274182.1",
"strand": true,
"transcript": "NM_001287253.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 481,
"aa_ref": "P",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3476,
"cdna_start": 2190,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1362,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000877955.1",
"gene_hgnc_id": 16511,
"gene_symbol": "SEPTIN8",
"hgvs_c": "c.1362C>G",
"hgvs_p": "p.Pro454Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548014.1",
"strand": false,
"transcript": "ENST00000877955.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 472,
"aa_ref": "P",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2709,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1335,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000971496.1",
"gene_hgnc_id": 16511,
"gene_symbol": "SEPTIN8",
"hgvs_c": "c.1335C>G",
"hgvs_p": "p.Pro445Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641555.1",
"strand": false,
"transcript": "ENST00000971496.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 482,
"aa_ref": "P",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2748,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1365,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_005271927.4",
"gene_hgnc_id": 16511,
"gene_symbol": "SEPTIN8",
"hgvs_c": "c.1365C>G",
"hgvs_p": "p.Pro455Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005271984.1",
"strand": false,
"transcript": "XM_005271927.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 481,
"aa_ref": "P",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1362,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_005271928.4",
"gene_hgnc_id": 16511,
"gene_symbol": "SEPTIN8",
"hgvs_c": "c.1362C>G",
"hgvs_p": "p.Pro454Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005271985.1",
"strand": false,
"transcript": "XM_005271928.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 480,
"aa_ref": "P",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1359,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017009254.3",
"gene_hgnc_id": 16511,
"gene_symbol": "SEPTIN8",
"hgvs_c": "c.1359C>G",
"hgvs_p": "p.Pro453Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864743.1",
"strand": false,
"transcript": "XM_017009254.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 423,
"aa_ref": "P",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4837,
"cdna_start": 3556,
"cds_end": null,
"cds_length": 1272,
"cds_start": 1188,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_005271931.4",
"gene_hgnc_id": 16511,
"gene_symbol": "SEPTIN8",
"hgvs_c": "c.1188C>G",
"hgvs_p": "p.Pro396Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005271988.1",
"strand": false,
"transcript": "XM_005271931.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 422,
"aa_ref": "P",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2953,
"cdna_start": 1672,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1185,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017009255.1",
"gene_hgnc_id": 16511,
"gene_symbol": "SEPTIN8",
"hgvs_c": "c.1185C>G",
"hgvs_p": "p.Pro395Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864744.1",
"strand": false,
"transcript": "XM_017009255.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 421,
"aa_ref": "P",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2950,
"cdna_start": 1669,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1182,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017009256.1",
"gene_hgnc_id": 16511,
"gene_symbol": "SEPTIN8",
"hgvs_c": "c.1182C>G",
"hgvs_p": "p.Pro394Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864745.1",
"strand": false,
"transcript": "XM_017009256.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 420,
"aa_ref": "P",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2947,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1179,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047416999.1",
"gene_hgnc_id": 16511,
"gene_symbol": "SEPTIN8",
"hgvs_c": "c.1179C>G",
"hgvs_p": "p.Pro393Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272955.1",
"strand": false,
"transcript": "XM_047416999.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 299,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4012,
"cdna_start": null,
"cds_end": null,
"cds_length": 900,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047417521.1",
"gene_hgnc_id": 33869,
"gene_symbol": "CCNI2",
"hgvs_c": "c.*977G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273477.1",
"strand": true,
"transcript": "XM_047417521.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 293,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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