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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: 6-52264696-GTT-CGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=52264696&ref=GTT&alt=CGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MCM3",
"hgnc_id": 6945,
"hgvs_c": "c.2468_2470delAACinsTCG",
"hgvs_p": "p.GlnPro823LeuAla",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001366369.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 808,
"aa_ref": "N",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3068,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 2427,
"cds_start": 2317,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002388.6",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2317_2319delAACinsTCG",
"hgvs_p": "p.Asn773Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000596288.7",
"protein_coding": true,
"protein_id": "NP_002379.4",
"strand": false,
"transcript": "NM_002388.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 808,
"aa_ref": "N",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3068,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 2427,
"cds_start": 2317,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000596288.7",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2317_2319delAACinsTCG",
"hgvs_p": "p.Asn773Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002388.6",
"protein_coding": true,
"protein_id": "ENSP00000472940.2",
"strand": false,
"transcript": "ENST00000596288.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 853,
"aa_ref": "N",
"aa_start": 818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3208,
"cdna_start": 2526,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2452,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000616552.4",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2452_2454delAACinsTCG",
"hgvs_p": "p.Asn818Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480987.1",
"strand": false,
"transcript": "ENST00000616552.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 818,
"aa_ref": "N",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3095,
"cdna_start": 2413,
"cds_end": null,
"cds_length": 2457,
"cds_start": 2347,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000229854.12",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2347_2349delAACinsTCG",
"hgvs_p": "p.Asn783Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000229854.6",
"strand": false,
"transcript": "ENST00000229854.12",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 839,
"aa_ref": "N",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 2553,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2410,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860054.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2410_2412delAACinsTCG",
"hgvs_p": "p.Asn804Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530113.1",
"strand": false,
"transcript": "ENST00000860054.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 839,
"aa_ref": "N",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": 2478,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2410,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860058.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2410_2412delAACinsTCG",
"hgvs_p": "p.Asn804Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530117.1",
"strand": false,
"transcript": "ENST00000860058.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 834,
"aa_ref": "N",
"aa_start": 799,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": 2498,
"cds_end": null,
"cds_length": 2505,
"cds_start": 2395,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939873.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2395_2397delAACinsTCG",
"hgvs_p": "p.Asn799Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609932.1",
"strand": false,
"transcript": "ENST00000939873.1",
"transcript_support_level": null
},
{
"aa_alt": "LA",
"aa_end": null,
"aa_length": 833,
"aa_ref": "QP",
"aa_start": 823,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3219,
"cdna_start": 2538,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2468,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366369.2",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2468_2470delAACinsTCG",
"hgvs_p": "p.GlnPro823LeuAla",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353298.1",
"strand": false,
"transcript": "NM_001366369.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": 2438,
"cds_end": null,
"cds_length": 2478,
"cds_start": 2368,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366370.2",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2368_2370delAACinsTCG",
"hgvs_p": "p.Asn790Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353299.1",
"strand": false,
"transcript": "NM_001366370.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3064,
"cdna_start": 2388,
"cds_end": null,
"cds_length": 2478,
"cds_start": 2368,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860060.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2368_2370delAACinsTCG",
"hgvs_p": "p.Asn790Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530119.1",
"strand": false,
"transcript": "ENST00000860060.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 821,
"aa_ref": "N",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3137,
"cdna_start": 2455,
"cds_end": null,
"cds_length": 2466,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939874.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2356_2358delAACinsTCG",
"hgvs_p": "p.Asn786Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609933.1",
"strand": false,
"transcript": "ENST00000939874.1",
"transcript_support_level": null
},
{
"aa_alt": "LA",
"aa_end": null,
"aa_length": 816,
"aa_ref": "QP",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3168,
"cdna_start": 2487,
"cds_end": null,
"cds_length": 2451,
"cds_start": 2417,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366371.2",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2417_2419delAACinsTCG",
"hgvs_p": "p.GlnPro806LeuAla",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353300.1",
"strand": false,
"transcript": "NM_001366371.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 807,
"aa_ref": "N",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3092,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2314,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860057.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2314_2316delAACinsTCG",
"hgvs_p": "p.Asn772Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530116.1",
"strand": false,
"transcript": "ENST00000860057.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 807,
"aa_ref": "N",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": 2434,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2314,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939871.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2314_2316delAACinsTCG",
"hgvs_p": "p.Asn772Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609930.1",
"strand": false,
"transcript": "ENST00000939871.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 807,
"aa_ref": "N",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3113,
"cdna_start": 2431,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2314,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939872.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2314_2316delAACinsTCG",
"hgvs_p": "p.Asn772Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609931.1",
"strand": false,
"transcript": "ENST00000939872.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 803,
"aa_ref": "N",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3075,
"cdna_start": 2399,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2302,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939876.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2302_2304delAACinsTCG",
"hgvs_p": "p.Asn768Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609935.1",
"strand": false,
"transcript": "ENST00000939876.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 794,
"aa_ref": "N",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 2345,
"cds_end": null,
"cds_length": 2385,
"cds_start": 2275,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939881.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2275_2277delAACinsTCG",
"hgvs_p": "p.Asn759Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609940.1",
"strand": false,
"transcript": "ENST00000939881.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 791,
"aa_ref": "N",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3017,
"cdna_start": 2336,
"cds_end": null,
"cds_length": 2376,
"cds_start": 2266,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366372.2",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2266_2268delAACinsTCG",
"hgvs_p": "p.Asn756Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353301.1",
"strand": false,
"transcript": "NM_001366372.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 791,
"aa_ref": "N",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3050,
"cdna_start": 2369,
"cds_end": null,
"cds_length": 2376,
"cds_start": 2266,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860056.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2266_2268delAACinsTCG",
"hgvs_p": "p.Asn756Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530115.1",
"strand": false,
"transcript": "ENST00000860056.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 765,
"aa_ref": "N",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": 2303,
"cds_end": null,
"cds_length": 2298,
"cds_start": 2188,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860055.1",
"gene_hgnc_id": 6945,
"gene_symbol": "MCM3",
"hgvs_c": "c.2188_2190delAACinsTCG",
"hgvs_p": "p.Asn730Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530114.1",
"strand": false,
"transcript": "ENST00000860055.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 764,
"aa_ref": "N",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2945,
"cdna_start": 2269,
"cds_end": null,
"cds_length": 2295,
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