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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: 6-52264697-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=52264697&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 52264697,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001366370.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2318A>G",
"hgvs_p": "p.Asn773Ser",
"transcript": "NM_002388.6",
"protein_id": "NP_002379.4",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 808,
"cds_start": 2318,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000596288.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002388.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2318A>G",
"hgvs_p": "p.Asn773Ser",
"transcript": "ENST00000596288.7",
"protein_id": "ENSP00000472940.2",
"transcript_support_level": 1,
"aa_start": 773,
"aa_end": null,
"aa_length": 808,
"cds_start": 2318,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002388.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596288.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2453A>G",
"hgvs_p": "p.Asn818Ser",
"transcript": "ENST00000616552.4",
"protein_id": "ENSP00000480987.1",
"transcript_support_level": 1,
"aa_start": 818,
"aa_end": null,
"aa_length": 853,
"cds_start": 2453,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616552.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2348A>G",
"hgvs_p": "p.Asn783Ser",
"transcript": "ENST00000229854.12",
"protein_id": "ENSP00000229854.6",
"transcript_support_level": 1,
"aa_start": 783,
"aa_end": null,
"aa_length": 818,
"cds_start": 2348,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229854.12"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2411A>G",
"hgvs_p": "p.Asn804Ser",
"transcript": "ENST00000860054.1",
"protein_id": "ENSP00000530113.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 839,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860054.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2411A>G",
"hgvs_p": "p.Asn804Ser",
"transcript": "ENST00000860058.1",
"protein_id": "ENSP00000530117.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 839,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860058.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2396A>G",
"hgvs_p": "p.Asn799Ser",
"transcript": "ENST00000939873.1",
"protein_id": "ENSP00000609932.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 834,
"cds_start": 2396,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939873.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2369A>G",
"hgvs_p": "p.Asn790Ser",
"transcript": "NM_001366370.2",
"protein_id": "NP_001353299.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 825,
"cds_start": 2369,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366370.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2369A>G",
"hgvs_p": "p.Asn790Ser",
"transcript": "ENST00000860060.1",
"protein_id": "ENSP00000530119.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 825,
"cds_start": 2369,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860060.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2357A>G",
"hgvs_p": "p.Asn786Ser",
"transcript": "ENST00000939874.1",
"protein_id": "ENSP00000609933.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 821,
"cds_start": 2357,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939874.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2315A>G",
"hgvs_p": "p.Asn772Ser",
"transcript": "ENST00000860057.1",
"protein_id": "ENSP00000530116.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 807,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860057.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2315A>G",
"hgvs_p": "p.Asn772Ser",
"transcript": "ENST00000939871.1",
"protein_id": "ENSP00000609930.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 807,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939871.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2315A>G",
"hgvs_p": "p.Asn772Ser",
"transcript": "ENST00000939872.1",
"protein_id": "ENSP00000609931.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 807,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939872.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2303A>G",
"hgvs_p": "p.Asn768Ser",
"transcript": "ENST00000939876.1",
"protein_id": "ENSP00000609935.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 803,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939876.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2276A>G",
"hgvs_p": "p.Asn759Ser",
"transcript": "ENST00000939881.1",
"protein_id": "ENSP00000609940.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 794,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939881.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2267A>G",
"hgvs_p": "p.Asn756Ser",
"transcript": "NM_001366372.2",
"protein_id": "NP_001353301.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 791,
"cds_start": 2267,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366372.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2267A>G",
"hgvs_p": "p.Asn756Ser",
"transcript": "ENST00000860056.1",
"protein_id": "ENSP00000530115.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 791,
"cds_start": 2267,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860056.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2189A>G",
"hgvs_p": "p.Asn730Ser",
"transcript": "ENST00000860055.1",
"protein_id": "ENSP00000530114.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 765,
"cds_start": 2189,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860055.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2186A>G",
"hgvs_p": "p.Asn729Ser",
"transcript": "ENST00000939880.1",
"protein_id": "ENSP00000609939.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 764,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939880.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2180A>G",
"hgvs_p": "p.Asn727Ser",
"transcript": "NM_001270472.3",
"protein_id": "NP_001257401.2",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 762,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270472.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2180A>G",
"hgvs_p": "p.Asn727Ser",
"transcript": "ENST00000419835.8",
"protein_id": "ENSP00000388647.4",
"transcript_support_level": 2,
"aa_start": 727,
"aa_end": null,
"aa_length": 762,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419835.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2177A>G",
"hgvs_p": "p.Asn726Ser",
"transcript": "ENST00000939877.1",
"protein_id": "ENSP00000609936.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 761,
"cds_start": 2177,
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{
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}