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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: 11-94437211-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=94437211&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 94437211,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000323929.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1892C>G",
"hgvs_p": "p.Pro631Arg",
"transcript": "NM_005591.4",
"protein_id": "NP_005582.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 708,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 6841,
"mane_select": "ENST00000323929.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1892C>G",
"hgvs_p": "p.Pro631Arg",
"transcript": "ENST00000323929.8",
"protein_id": "ENSP00000325863.4",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 708,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 6841,
"mane_select": "NM_005591.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1808C>G",
"hgvs_p": "p.Pro603Arg",
"transcript": "ENST00000323977.7",
"protein_id": "ENSP00000326094.3",
"transcript_support_level": 1,
"aa_start": 603,
"aa_end": null,
"aa_length": 680,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1892C>G",
"hgvs_p": "p.Pro631Arg",
"transcript": "NM_001440460.1",
"protein_id": "NP_001427389.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 725,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 6892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1892C>G",
"hgvs_p": "p.Pro631Arg",
"transcript": "NM_001440461.1",
"protein_id": "NP_001427390.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 725,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 6999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1901C>G",
"hgvs_p": "p.Pro634Arg",
"transcript": "ENST00000407439.7",
"protein_id": "ENSP00000385614.3",
"transcript_support_level": 2,
"aa_start": 634,
"aa_end": null,
"aa_length": 711,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1892C>G",
"hgvs_p": "p.Pro631Arg",
"transcript": "NM_001440462.1",
"protein_id": "NP_001427391.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 708,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 6948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1892C>G",
"hgvs_p": "p.Pro631Arg",
"transcript": "NM_001440463.1",
"protein_id": "NP_001427392.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 708,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2149,
"cdna_end": null,
"cdna_length": 6939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1889C>G",
"hgvs_p": "p.Pro630Arg",
"transcript": "NM_001330347.2",
"protein_id": "NP_001317276.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 707,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 6838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1889C>G",
"hgvs_p": "p.Pro630Arg",
"transcript": "NM_001440464.1",
"protein_id": "NP_001427393.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 707,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 6945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1889C>G",
"hgvs_p": "p.Pro630Arg",
"transcript": "NM_001440465.1",
"protein_id": "NP_001427394.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 707,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2039,
"cdna_end": null,
"cdna_length": 6829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1889C>G",
"hgvs_p": "p.Pro630Arg",
"transcript": "ENST00000393241.8",
"protein_id": "ENSP00000376933.4",
"transcript_support_level": 5,
"aa_start": 630,
"aa_end": null,
"aa_length": 707,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1808C>G",
"hgvs_p": "p.Pro603Arg",
"transcript": "NM_001440466.1",
"protein_id": "NP_001427395.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 697,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 2074,
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"cdna_length": 6915,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1829C>G",
"hgvs_p": "p.Pro610Arg",
"transcript": "NM_001440467.1",
"protein_id": "NP_001427396.1",
"transcript_support_level": null,
"aa_start": 610,
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"aa_length": 687,
"cds_start": 1829,
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"cdna_start": 1988,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1829C>G",
"hgvs_p": "p.Pro610Arg",
"transcript": "NM_001440468.1",
"protein_id": "NP_001427397.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 687,
"cds_start": 1829,
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"cdna_start": 2095,
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"cdna_length": 6885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1829C>G",
"hgvs_p": "p.Pro610Arg",
"transcript": "NM_001440469.1",
"protein_id": "NP_001427398.1",
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"feature": null
},
{
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"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1826C>G",
"hgvs_p": "p.Pro609Arg",
"transcript": "NM_001440470.1",
"protein_id": "NP_001427399.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 686,
"cds_start": 1826,
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"cds_length": 2061,
"cdna_start": 2092,
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"cdna_length": 6882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1817C>G",
"hgvs_p": "p.Pro606Arg",
"transcript": "NM_001440471.1",
"protein_id": "NP_001427400.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 683,
"cds_start": 1817,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2191,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1814C>G",
"hgvs_p": "p.Pro605Arg",
"transcript": "NM_001440472.1",
"protein_id": "NP_001427401.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1811C>G",
"hgvs_p": "p.Pro604Arg",
"transcript": "NM_001440473.1",
"protein_id": "NP_001427402.1",
"transcript_support_level": null,
"aa_start": 604,
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"aa_length": 681,
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"cdna_start": 1970,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
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"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1808C>G",
"hgvs_p": "p.Pro603Arg",
"transcript": "NM_001440474.1",
"protein_id": "NP_001427403.1",
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"aa_start": 603,
"aa_end": null,
"aa_length": 680,
"cds_start": 1808,
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"cdna_start": 1967,
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"cdna_length": 6757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1808C>G",
"hgvs_p": "p.Pro603Arg",
"transcript": "NM_001440475.1",
"protein_id": "NP_001427404.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 680,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 6855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.1808C>G",
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}