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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: 6-52267910-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=52267910&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 52267910,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001366369.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2027A>G",
"hgvs_p": "p.Asp676Gly",
"transcript": "NM_002388.6",
"protein_id": "NP_002379.4",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 808,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 3068,
"mane_select": "ENST00000596288.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002388.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2027A>G",
"hgvs_p": "p.Asp676Gly",
"transcript": "ENST00000596288.7",
"protein_id": "ENSP00000472940.2",
"transcript_support_level": 1,
"aa_start": 676,
"aa_end": null,
"aa_length": 808,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 3068,
"mane_select": "NM_002388.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596288.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2162A>G",
"hgvs_p": "p.Asp721Gly",
"transcript": "ENST00000616552.4",
"protein_id": "ENSP00000480987.1",
"transcript_support_level": 1,
"aa_start": 721,
"aa_end": null,
"aa_length": 853,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616552.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2057A>G",
"hgvs_p": "p.Asp686Gly",
"transcript": "ENST00000229854.12",
"protein_id": "ENSP00000229854.6",
"transcript_support_level": 1,
"aa_start": 686,
"aa_end": null,
"aa_length": 818,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 3095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229854.12"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2120A>G",
"hgvs_p": "p.Asp707Gly",
"transcript": "ENST00000860054.1",
"protein_id": "ENSP00000530113.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 839,
"cds_start": 2120,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860054.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2027A>G",
"hgvs_p": "p.Asp676Gly",
"transcript": "ENST00000860058.1",
"protein_id": "ENSP00000530117.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 839,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860058.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Asp702Gly",
"transcript": "ENST00000939873.1",
"protein_id": "ENSP00000609932.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 834,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939873.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2027A>G",
"hgvs_p": "p.Asp676Gly",
"transcript": "NM_001366369.2",
"protein_id": "NP_001353298.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 833,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366369.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2078A>G",
"hgvs_p": "p.Asp693Gly",
"transcript": "NM_001366370.2",
"protein_id": "NP_001353299.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 825,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366370.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2078A>G",
"hgvs_p": "p.Asp693Gly",
"transcript": "ENST00000860060.1",
"protein_id": "ENSP00000530119.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 825,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2096,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860060.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2066A>G",
"hgvs_p": "p.Asp689Gly",
"transcript": "ENST00000939874.1",
"protein_id": "ENSP00000609933.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 821,
"cds_start": 2066,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2163,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939874.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1976A>G",
"hgvs_p": "p.Asp659Gly",
"transcript": "NM_001366371.2",
"protein_id": "NP_001353300.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 816,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2044,
"cdna_end": null,
"cdna_length": 3168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366371.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2027A>G",
"hgvs_p": "p.Asp676Gly",
"transcript": "ENST00000860057.1",
"protein_id": "ENSP00000530116.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 807,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 3092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860057.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2024A>G",
"hgvs_p": "p.Asp675Gly",
"transcript": "ENST00000939871.1",
"protein_id": "ENSP00000609930.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 807,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939871.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2024A>G",
"hgvs_p": "p.Asp675Gly",
"transcript": "ENST00000939872.1",
"protein_id": "ENSP00000609931.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 807,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939872.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.2027A>G",
"hgvs_p": "p.Asp676Gly",
"transcript": "ENST00000939876.1",
"protein_id": "ENSP00000609935.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 803,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 3075,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939876.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1985A>G",
"hgvs_p": "p.Asp662Gly",
"transcript": "ENST00000939881.1",
"protein_id": "ENSP00000609940.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 794,
"cds_start": 1985,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939881.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1976A>G",
"hgvs_p": "p.Asp659Gly",
"transcript": "NM_001366372.2",
"protein_id": "NP_001353301.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 791,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2044,
"cdna_end": null,
"cdna_length": 3017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366372.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1976A>G",
"hgvs_p": "p.Asp659Gly",
"transcript": "ENST00000860056.1",
"protein_id": "ENSP00000530115.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 791,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860056.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1898A>G",
"hgvs_p": "p.Asp633Gly",
"transcript": "ENST00000860055.1",
"protein_id": "ENSP00000530114.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 765,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 2011,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860055.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1895A>G",
"hgvs_p": "p.Asp632Gly",
"transcript": "ENST00000939880.1",
"protein_id": "ENSP00000609939.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 764,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 2945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939880.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM3",
"gene_hgnc_id": 6945,
"hgvs_c": "c.1889A>G",
"hgvs_p": "p.Asp630Gly",
"transcript": "NM_001270472.3",
"protein_id": "NP_001257401.2",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 762,
"cds_start": 1889,
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"phenotype_combined": "not specified",
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}
],
"message": null
}